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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 40376

FusionGeneSummary for UBB_SMARCA4

check button Fusion gene summary
Fusion gene informationFusion gene name: UBB_SMARCA4
Fusion gene ID: 40376
HgeneTgene
Gene symbol

UBB

SMARCA4

Gene ID

7314

6597

Gene nameubiquitin BSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SynonymsHEL-S-50BAF190|BAF190A|BRG1|CSS4|MRD16|RTPS2|SNF2|SNF2L4|SNF2LB|SWI2|hSNF2b
Cytomap

17p11.2

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionpolyubiquitin-Bepididymis secretory protein Li 50polyubiquitin Btranscription activator BRG1ATP-dependent helicase SMARCA4BRG1-associated factor 190ABRM/SWI2-related gene 1SNF2-betaSNF2-like 4brahma protein-like 1global transcription activator homologous sequencehomeotic gene regulatormitotic growth and trans
Modification date2018052320180523
UniProtAcc

P0CG47

P51532

Ensembl transtripts involved in fusion geneENST00000302182, ENST00000535788, 
ENST00000578649, ENST00000395839, 
ENST00000395837, 		ENST00000358026, 
ENST00000344626, ENST00000429416, 
ENST00000541122, ENST00000589677, 
ENST00000444061, ENST00000590574, 
ENST00000413806, ENST00000450717, 
ENST00000538456, 
Fusion gene scores* DoF score2 X 2 X 1=412 X 14 X 8=1344
# samples 215
** MAII scorelog2(2/4*10)=2.32192809488736log2(15/1344*10)=-3.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBB [Title/Abstract] AND SMARCA4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneUBB

GO:0031398

positive regulation of protein ubiquitination

24660806

HgeneUBB

GO:0047497

mitochondrion transport along microtubule

17571083

HgeneUBB

GO:0051881

regulation of mitochondrial membrane potential

17571083

HgeneUBB

GO:0061136

regulation of proteasomal protein catabolic process

17571083

HgeneUBB

GO:1901214

regulation of neuron death

17571083

HgeneUBB

GO:1902255

positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator

17571083

TgeneSMARCA4

GO:0006337

nucleosome disassembly

8895581

TgeneSMARCA4

GO:0006338

chromatin remodeling

10943845|11726552

TgeneSMARCA4

GO:0045892

negative regulation of transcription, DNA-templated

12065415

TgeneSMARCA4

GO:0045944

positive regulation of transcription by RNA polymerase II

15774904|17938176

TgeneSMARCA4

GO:0051091

positive regulation of DNA binding transcription factor activity

11950834|17938176

TgeneSMARCA4

GO:1902661

positive regulation of glucose mediated signaling pathway

22368283


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1DB041801UBBchr17

16285496

+SMARCA4chr19

11095008

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000302182ENST00000358026UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000302182ENST00000344626UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000302182ENST00000429416UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000302182ENST00000541122UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000302182ENST00000589677UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000302182ENST00000444061UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000302182ENST00000590574UBBchr17

16285496

+SMARCA4chr19

11095008

+
Frame-shiftENST00000302182ENST00000413806UBBchr17

16285496

+SMARCA4chr19

11095008

+
Frame-shiftENST00000302182ENST00000450717UBBchr17

16285496

+SMARCA4chr19

11095008

+
5CDS-intronENST00000302182ENST00000538456UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000358026UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000344626UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000429416UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000541122UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000589677UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000444061UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000590574UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000413806UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000535788ENST00000450717UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-intronENST00000535788ENST00000538456UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000358026UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000344626UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000429416UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000541122UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000589677UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000444061UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000590574UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000413806UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-3CDSENST00000578649ENST00000450717UBBchr17

16285496

+SMARCA4chr19

11095008

+
intron-intronENST00000578649ENST00000538456UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000358026UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000344626UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000429416UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000541122UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000589677UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000444061UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395839ENST00000590574UBBchr17

16285496

+SMARCA4chr19

11095008

+
Frame-shiftENST00000395839ENST00000413806UBBchr17

16285496

+SMARCA4chr19

11095008

+
Frame-shiftENST00000395839ENST00000450717UBBchr17

16285496

+SMARCA4chr19

11095008

+
5CDS-intronENST00000395839ENST00000538456UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000358026UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000344626UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000429416UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000541122UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000589677UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000444061UBBchr17

16285496

+SMARCA4chr19

11095008

+
In-frameENST00000395837ENST00000590574UBBchr17

16285496

+SMARCA4chr19

11095008

+
Frame-shiftENST00000395837ENST00000413806UBBchr17

16285496

+SMARCA4chr19

11095008

+
Frame-shiftENST00000395837ENST00000450717UBBchr17

16285496

+SMARCA4chr19

11095008

+
5CDS-intronENST00000395837ENST00000538456UBBchr17

16285496

+SMARCA4chr19

11095008

+

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FusionProtFeatures for UBB_SMARCA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBB

P0CG47

SMARCA4

P51532

Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. Component of the CREST-BRG1 complex, amultiprotein complex that regulates promoter activation byorchestrating the calcium-dependent release of a repressor complexand the recruitment of an activator complex. In resting neurons,transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex.Upon calcium influx, RB1 is dephosphorylated by calcineurin, whichleads to release of the repressor complex. At the same time, thereis increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation.The CREST-BRG1 complex also binds to the NR2B promoter, andactivity-dependent induction of NR2B expression involves therelease of HDAC1 and recruitment of CREBBP. Belongs to the neuralprogenitors-specific chromatin remodeling complex (npBAF complex)and the neuron-specific chromatin remodeling complex (nBAFcomplex). During neural development, a switch from astem/progenitor to a postmitotic chromatin remodeling mechanismoccurs as neurons exit the cell cycle and become committed totheir adult state. The transition from proliferating neuralstem/progenitor cells to postmitotic neurons requires a switch insubunit composition of the npBAF and nBAF complexes. As neuralprogenitors exit mitosis and differentiate into neurons, npBAFcomplexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45Bor DPF3/BAF45C subunits in neuron-specific complexes (nBAF). ThenpBAF complex is essential for the self-renewal/proliferativecapacity of the multipotent neural stem cells. The nBAF complexalong with CREST plays a role regulating the activity of genesessential for dendrite growth. SMARCA4/BAF190A may promote neuralstem cell self-renewal/proliferation by enhancing Notch-dependentproliferative signals, while concurrently making the neural stemcell insensitive to SHH-dependent differentiating cues (Bysimilarity). Acts as a corepressor of ZEB1 to regulate E-cadherintranscription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancerslocated in the intergenic region between DLX5 and DLX6 and thisbinding is stabilized by the long non-coding RNA (lncRNA) Evf2 (Bysimilarity). Binds to RNA in a promiscuous manner (By similarity).Binding to RNAs including lncRNA Evf2 leads to inhibition ofSMARCA4 ATPase and chromatin remodeling activities (Bysimilarity). {ECO:0000250|UniProtKB:Q3TKT4,ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:20418909,ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for UBB_SMARCA4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0aa

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000302182_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395839_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000358026_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000344626_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000429416_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000541122_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000589677_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000444061_chr19_11095008_+_0nt

>In-frame_UBB_ENST00000395837_chr17_16285496_+_SMARCA4_ENST00000590574_chr19_11095008_+_0nt


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FusionGenePPI for UBB_SMARCA4


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for UBB_SMARCA4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for UBB_SMARCA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSMARCA4C0262584Carcinoma, Small Cell4CTD_human
TgeneSMARCA4C0919267ovarian neoplasm4CTD_human
TgeneSMARCA4C0006413Burkitt Lymphoma1CTD_human
TgeneSMARCA4C0036920Sezary Syndrome1CTD_human
TgeneSMARCA4C0039981Thoracic Neoplasms1CTD_human
TgeneSMARCA4C0149925Small cell carcinoma of lung1CTD_human
TgeneSMARCA4C0265338Coffin-Siris syndrome1CTD_human;ORPHANET
TgeneSMARCA4C1261473Sarcoma1CTD_human
TgeneSMARCA4C3553249MENTAL RETARDATION, AUTOSOMAL DOMINANT 161UNIPROT