1. Gene
  2. SMARCE1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 Gene

SMARCE1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 Gene

中文名称:SWI/SNF 相关、基质相关、肌动蛋白依赖性染色质调节因子,亚科 e,成员 1

种属: Homo sapiens

同用名: CSS5; BAF57

基因 ID: 6605 | 基因类型: protein coding

关于 SMARCE1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:40,624,962-40,647,818 (from NCBI)

This gene has 51 transcripts (splice variants), 248 orthologues, 20 paralogues and is associated with 63 phenotypes. Ubiquitous expression in endometrium (RPKM 61.3), ovary (RPKM 41.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是大型 ATP 依赖性染色质重塑复合体 SWI/SNF 的一部分,它是转录激活通常被染色质抑制的基因所必需的。编码的蛋白质,无论是单独的还是在 SWI/SNF 复合物中,都可以与 4 向连接 DNA 结合,这被认为在进入或离开核小体时模仿 DNA 的拓扑结构。该蛋白质包含一个 DNA 结合 HMG 结构域,但破坏该结构域不会消除 SWI/SNF 复合体的 DNA 结合或核小体置换活性。与大多数 SWI/SNF 复合蛋白不同,该蛋白没有酵母对应物。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]

SMARCE1 基因产物(1)

mRNA Protein Name
NM_003079.5 NP_003070.3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acetyltransferase activity IDA
IDA: 通过直接分析推断
12192000 GOA
enables nuclear receptor binding IPI
IPI: 通过物理相互作用推断
17363140 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12192000 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromatin remodeling IDA
IDA: 通过直接分析推断
11726552 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12192000 GOA
involved in nucleosome disassembly IDA
IDA: 通过直接分析推断
8895581 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SWI/SNF complex IDA
IDA: 通过直接分析推断
8804307 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SMARCE1 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (66 - 133)

  • 0
  • 100
  • 200
  • 300
  • 411 a.a.
蛋白主名 其他名称

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

BRG1-associated factor 57

SMARCE1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SMARCE1 Q969G3 CCDC136 Homo sapiens Q96JN2-2
Validated Y2H
25416956
Intra SMARCE1 Q969G3 KRT40 Homo sapiens Q6A162
Validated Y2H
25416956
Intra SMARCE1 Q969G3 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT40 Homo sapiens Q6A162
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRTAP10-9 Homo sapiens P60411
Validated Y2H
25416956
Intra SMARCE1 Q969G3 CCHCR1 Homo sapiens Q8TD31-3
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 CCHCR1 Homo sapiens Q8TD31-3
Y2H Array
32296183
Intra SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4-4
Validated Y2H
25416956
Intra SMARCE1 Q969G3 KRT37 Homo sapiens O76014
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRT37 Homo sapiens O76014
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRT35 Homo sapiens Q92764
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT35 Homo sapiens Q92764
Y2H Array
32296183
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Y2H Array
25416956
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Y2H Array
31515488
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
25416956
Intra SMARCE1 Q969G3 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
Intra SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8-3
Y2H Array
32296183
Intra SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8-3
Validated Y2H
32296183
Intra SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8-3
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 CDR2 Homo sapiens Q01850
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 CDR2 Homo sapiens Q01850
Validated Y2H
25416956
Intra SMARCE1 Q969G3 CDR2 Homo sapiens Q01850
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 CDR2 Homo sapiens Q01850
Y2H Array
25416956
Intra SMARCE1 Q969G3 CDR2 Homo sapiens Q01850
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRT39 Homo sapiens Q6A163
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT39 Homo sapiens Q6A163
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRTAP1-1 Homo sapiens Q07627
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRTAP1-1 Homo sapiens Q07627
Y2H Array
32296183
Intra SMARCE1 Q969G3 DISC1 Homo sapiens Q9NRI5-2
Validated Y2H
32296183
Intra SMARCE1 Q969G3 DISC1 Homo sapiens Q9NRI5-2
Y2H Array
32296183
Intra SMARCE1 Q969G3 DISC1 Homo sapiens Q9NRI5-2
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 IFT74 Homo sapiens Q96LB3-2
Validated Y2H
32296183
Intra SMARCE1 Q969G3 TEX12 Homo sapiens Q9BXU0
Y2H Array
32296183
Intra SMARCE1 Q969G3 TEX12 Homo sapiens Q9BXU0
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 TEX12 Homo sapiens Q9BXU0
Validated Y2H
32296183
Intra SMARCE1 Q969G3 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra SMARCE1 Q969G3 CCDC183 Homo sapiens G5E9W6
Y2H Array
32296183
Intra SMARCE1 Q969G3 CCDC183 Homo sapiens G5E9W6
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 EXOC4 Homo sapiens Q96A65-2
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 EXOC4 Homo sapiens Q96A65-2
Y2H Array
32296183
Intra SMARCE1 Q969G3 EXOC4 Homo sapiens Q96A65-2
Validated Y2H
32296183
Intra SMARCE1 Q969G3 FAM217B Homo sapiens Q9NTX9
Validated Y2H
32296183
Intra SMARCE1 Q969G3 FAM217B Homo sapiens Q9NTX9
Y2H Array
32296183
Intra SMARCE1 Q969G3 FAM217B Homo sapiens Q9NTX9
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KIFC3 Homo sapiens Q9BVG8
Validated Y2H
25416956
Intra SMARCE1 Q969G3 TRIM54 Homo sapiens Q9BYV2
Y2H Array
32296183
Intra SMARCE1 Q969G3 TRIM54 Homo sapiens Q9BYV2
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRTAP6-3 Homo sapiens Q3LI67
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRTAP6-3 Homo sapiens Q3LI67
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10
Validated Y2H
25416956
Intra SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10
Y2H Array
32296183
Intra SMARCE1 Q969G3 MIPOL1 Homo sapiens Q8TD10
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 CCDC172 Homo sapiens P0C7W6
Y2H Array
31515488
Intra SMARCE1 Q969G3 CCDC172 Homo sapiens P0C7W6
Y2H Array
25416956
Intra SMARCE1 Q969G3 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra SMARCE1 Q969G3 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra SMARCE1 Q969G3 IFT88 Homo sapiens Q13099
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 IFT88 Homo sapiens Q13099
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 PSMC6 Homo sapiens P62333
Y2H Array
32296183
Intra SMARCE1 Q969G3 PSMC6 Homo sapiens P62333
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 TXLNA Homo sapiens P40222
Validated Y2H
25416956
Intra SMARCE1 Q969G3 TXLNA Homo sapiens P40222
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra SMARCE1 Q969G3 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 MED4 Homo sapiens Q9NPJ6
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 MED4 Homo sapiens Q9NPJ6
Validated Y2H
25416956
Intra SMARCE1 Q969G3 MED4 Homo sapiens Q9NPJ6
Y2H Array
25416956
Intra SMARCE1 Q969G3 ING5 Homo sapiens Q8WYH8
Validated Y2H
25416956
Intra SMARCE1 Q969G3 FSD2 Homo sapiens A1L4K1
Y2H Array
32296183
Intra SMARCE1 Q969G3 FSD2 Homo sapiens A1L4K1
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 GOLGA6L9 Homo sapiens A6NEM1
Y2H Array
32296183
Intra SMARCE1 Q969G3 GOLGA6L9 Homo sapiens A6NEM1
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
Intra SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
Intra SMARCE1 Q969G3 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra SMARCE1 Q969G3 ARID2 Homo sapiens Q68CP9
Anti Tag CoIP
33961781
Intra SMARCE1 Q969G3 ARID2 Homo sapiens Q68CP9
Anti Bait CoIP
15985610
Intra SMARCE1 Q969G3 ARID2 Homo sapiens Q68CP9
TAP
24981860
Intra SMARCE1 Q969G3 TRIP10 Homo sapiens Q15642-2
Y2H Array
32296183
Intra SMARCE1 Q969G3 TRIP10 Homo sapiens Q15642-2
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT14 Homo sapiens P02533
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT14 Homo sapiens P02533
Y2H Array
32296183
Intra SMARCE1 Q969G3 STX11 Homo sapiens O75558
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 STX11 Homo sapiens O75558
Validated Y2H
25416956
Intra SMARCE1 Q969G3 BRMS1 Homo sapiens Q9HCU9
Y2H
16919237
Intra SMARCE1 Q969G3 GRIPAP1 Homo sapiens Q4V328
Y2H Array
32296183
Intra SMARCE1 Q969G3 GRIPAP1 Homo sapiens Q4V328
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 EXOC7 Homo sapiens Q9UPT5
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 EXOC7 Homo sapiens Q9UPT5
Y2H Array
25416956
Intra SMARCE1 Q969G3 RINT1 Homo sapiens Q6NUQ1
Validated Y2H
25416956
Intra SMARCE1 Q969G3 RINT1 Homo sapiens Q6NUQ1
Y2H Array
25416956
Intra SMARCE1 Q969G3 KRT15 Homo sapiens P19012
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 KRT15 Homo sapiens P19012
Validated Y2H
25416956
Intra SMARCE1 Q969G3 CEP70 Homo sapiens Q8NHQ1
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 CEP70 Homo sapiens Q8NHQ1
Y2H Array
32296183
Intra SMARCE1 Q969G3 CEP70 Homo sapiens Q8NHQ1
Validated Y2H
25416956
Intra SMARCE1 Q969G3 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
25416956
Intra SMARCE1 Q969G3 TRIP10 Homo sapiens Q15642
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8
Y2H
21516116
Intra SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8
Y2H Array
25416956
Intra SMARCE1 Q969G3 CEP63 Homo sapiens Q96MT8
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 KRT19 Homo sapiens P08727
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 KRT19 Homo sapiens P08727
Y2H Array
32296183
Intra SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59
Validated Y2H
25416956
Intra SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 MTUS2 Homo sapiens Q5JR59
Y2H Array
25416956
Intra SMARCE1 Q969G3 CEP170P1 Homo sapiens Q96L14
Validated Y2H
25416956
Intra SMARCE1 Q969G3 CEP170P1 Homo sapiens Q96L14
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4
Validated Y2H
32296183
Intra SMARCE1 Q969G3 AMOTL2 Homo sapiens Q9Y2J4
Y2H Array
32296183
Intra SMARCE1 Q969G3 MEOX2 Homo sapiens P50222
Validated Y2H
25416956
Intra SMARCE1 Q969G3 MRFAP1L1 Homo sapiens Q96HT8
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311
Y2H Prey Pooling
25416956
Intra SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311
Validated Y2H
25416956
Intra SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311
Y2H Prey Pooling
32296183
Intra SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311
Y2H Array
25416956
Intra SMARCE1 Q969G3 RALBP1 Homo sapiens Q15311
Y2H Array
32296183
Intra SMARCE1 Q969G3 JAKMIP2 Homo sapiens Q96AA8
Validated Y2H
25416956
Intra SMARCE1 Q969G3 JAKMIP2 Homo sapiens Q96AA8
Y2H Array
25416956
Intra SMARCE1 Q969G3 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
Intra SMARCE1 Q969G3 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Array
25416956
Intra SMARCE1 Q969G3 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Intra SMARCE1 Q969G3 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Coffin-Siris Syndrome 5

CSS5

Coffin-Siris Syndrome, Type 5

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Clear Cell Meningioma
Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Spinal Cancer

Spinal Cord Neoplasm

Spinal Cord Neoplasms

Spinal Neoplasms

Intraspinal Tumor

Malignant Tumor Of The Spinal Cord

Spinal Cord Cancer

Spinal Neoplasm

Tumor Of The Spinal Cord

Tumors Spinal Cord

Intraspinal Neoplasm

Spinal Cord--Cancer

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation

Autosomal Dominant Non-Syndromic Mental Retardation

Autosomal Dominant Non-Syndromic Intellectual Disability

Mental Retardation, Autosomal Dominant

Parasagittal Meningioma
Clark-Baraitser Syndrome

CLABARS

Baraitser Syndrome

Autosomal Dominant Intellectual Disability 49

Mental Retardation, Autosomal Dominant 49, Formerly

Mrd49, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 49

Autosomal Dominant Mental Retardation 49

Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

Mrd49

Progeria Short Stature Pigmented Nevi

Angiomatous Meningioma
Hypertrichosis
Rhabdoid Meningioma

Papillary Meningioma

Meningioma, Rhabdoid

Childhood Meningioma

Pediatric Meningioma

Neurilemmomatosis

Schwannomatosis

Neurofibromatosis Type 3

Nf3

Neurilemmomatosis Congenital Cutaneous

Neurinomatosis

Congenital Cutaneous Neurilemmomatosis

Multiple Neurilemmomas

Multiple Schwannomas

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis 1

Neurofibromatosis 3

Mixed Central And Peripheral Neurofibromatosis

Nf3 - [Neurofibromatosis Type 3]

Cerebral Convexity Meningioma

Cerebral Hemispheric Convexity Meningioma

Cerebral Falx Meningioma

Falcine Meningioma

Falx Cerebri Meningioma

Skull Base Meningioma

Meningioma Of The Skull Base

Skull Base Cancer

Tumors Of Skull Base

Skull Base Neoplasms

Meningothelial Meningioma

Meningotheliomatous Meningioma

Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa

Secretory Meningioma

Meningioma

Coffin-Siris Syndrome 6

CSS6

Coffin-Siris Syndrome, Type 6

Olfactory Groove Meningioma

Meningioma Of The Olfactory Groove

Solitary Fibrous Tumor/Hemangiopericytoma

Sft/Hpc

Brain Meningioma

Intracranial Meningioma

Transitional Meningioma

Transitional Meningioma

Intraventricular Meningioma
Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle

Microcystic Meningioma
Intracranial Meningioma

Meningioma

Sphenoorbital Meningioma
Cavernous Sinus Meningioma

Meningioma Of The Cavernous Sinus

Cerebral Meningioma

Meningioma Of Cerebrum

Fibrous Meningioma

Fibroblastic Meningioma

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Rhabdoid Cancer

Rhabdoid Tumor

Malignant Rhabdoid Tumor

Malignant Rhabdoid Tumour

Rhabdoid Sarcoma

Rhabdoid Tumor Predisposition Syndrome 1

Rhabdoid Tumor Predisposition Syndrome 2

Atypical Teratoid Rhabdoid Tumor

Brain Tumor, Posterior Fossa, Of Infancy, Familial

Atypical Teratoid/Rhabdoid Tumor

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Borjeson-Forssman-Lehmann Syndrome

BFLS

Borj

Borjeson Syndrome

Mrxsbfl

Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome

Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome

Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

Mental Retardation, Epilepsy, And Endocrine Disorders

Mental Retardation, Epilepsy, And Endocrine Disorder

Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type

Mental Deficiency, Epilepsy And Endocrine Disorders

Boerjeson-Forssman-Lehmann Syndrome

Borjeson-Forssman Syndrome

Mental Deficiency-Epilepsy- Endocrine Disorders

Atypical Teratoid Rhabdoid Tumor

Rhabdoid Tumor Predisposition Syndrome

Rtps

Atypical Teratoid/Rhabdoid Tumor

Rhabdoid Predisposition Syndrome

Familial Posterior Fossa Brain Tumor Of Infancy

Familial Rhabdoid Tumor

At/Rt

Atypical Teratoid Rhabdoid Tumour

Atypical Teratoid/Rhabdoid Tumour

Rhabdoid Tumor Of The Cns

Rhabdoid Tumour Of The Cns

Familial Posterior Fossa Brain Tumor Syndrome

Hereditary Swi/Snf Deficiency Syndrome

Atrt

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus SMARCE1 VGNC VGNC:34996
Rattus norvegicus SMARCE1 RGD RGD:1304726
Felis catus SMARCE1 VGNC VGNC:99456
Macaca mulatta SMARCE1 VGNC VGNC:97830
Mus musculus SMARCE1 MGD MGI:1927347
Canis familiaris SMARCE1 VGNC VGNC:46540