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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BPTF-BPTF (FusionGDB2 ID:10143)

Fusion Gene Summary for BPTF-BPTF

check button Fusion gene summary
Fusion gene informationFusion gene name: BPTF-BPTF
Fusion gene ID: 10143
HgeneTgene
Gene symbol

BPTF

BPTF

Gene ID

2186

2186

Gene namebromodomain PHD finger transcription factorbromodomain PHD finger transcription factor
SynonymsFAC1|FALZ|NEDDFL|NURF301FAC1|FALZ|NEDDFL|NURF301
Cytomap

17q24.2

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionnucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling fnucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling f
Modification date2020031320200313
UniProtAcc

Q12830

Q12830

Ensembl transtripts involved in fusion geneENST00000335221, ENST00000321892, 
ENST00000306378, ENST00000424123, 
ENST00000577770, 		ENST00000335221, 
ENST00000321892, ENST00000306378, 
ENST00000424123, ENST00000577770, 
Fusion gene scores* DoF score27 X 21 X 13=737123 X 23 X 6=3174
# samples 4226
** MAII scorelog2(42/7371*10)=-4.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(26/3174*10)=-3.60971859980673
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPTF [Title/Abstract] AND BPTF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBPTF(65862663)-BPTF(65871020), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

HgeneBPTF

GO:0006338

chromatin remodeling

14609955

TgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

TgeneBPTF

GO:0006338

chromatin remodeling

14609955


check buttonFusion gene breakpoints across BPTF (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BPTF (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABF988361BPTFchr17

65862663

+BPTFchr17

65871020

-


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Fusion Gene ORF analysis for BPTF-BPTF

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-frameENST00000335221ENST00000335221BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000335221ENST00000321892BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000335221ENST00000306378BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000335221ENST00000424123BPTFchr17

65862663

+BPTFchr17

65871020

-
5CDS-intronENST00000335221ENST00000577770BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000321892ENST00000335221BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000321892ENST00000321892BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000321892ENST00000306378BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000321892ENST00000424123BPTFchr17

65862663

+BPTFchr17

65871020

-
5CDS-intronENST00000321892ENST00000577770BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000306378ENST00000335221BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000306378ENST00000321892BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000306378ENST00000306378BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000306378ENST00000424123BPTFchr17

65862663

+BPTFchr17

65871020

-
5CDS-intronENST00000306378ENST00000577770BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000424123ENST00000335221BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000424123ENST00000321892BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000424123ENST00000306378BPTFchr17

65862663

+BPTFchr17

65871020

-
In-frameENST00000424123ENST00000424123BPTFchr17

65862663

+BPTFchr17

65871020

-
5CDS-intronENST00000424123ENST00000577770BPTFchr17

65862663

+BPTFchr17

65871020

-
intron-3CDSENST00000577770ENST00000335221BPTFchr17

65862663

+BPTFchr17

65871020

-
intron-3CDSENST00000577770ENST00000321892BPTFchr17

65862663

+BPTFchr17

65871020

-
intron-3CDSENST00000577770ENST00000306378BPTFchr17

65862663

+BPTFchr17

65871020

-
intron-3CDSENST00000577770ENST00000424123BPTFchr17

65862663

+BPTFchr17

65871020

-
intron-intronENST00000577770ENST00000577770BPTFchr17

65862663

+BPTFchr17

65871020

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for BPTF-BPTF


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for BPTF-BPTF


check button Go to

FGviewer for the breakpoints of chr17:65862663-chr17:65871020

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q12830

BPTF

Q12830

FUNCTION: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.FUNCTION: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.

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
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282022_205002921.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282706_273202921.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028574_60402921.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028978_100702921.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302022_205003047.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302706_273203047.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030574_60403047.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030978_100703047.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302022_205002904.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302706_273202904.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030574_60402904.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030978_100702904.0Coiled coilOntology_term=ECO:0000255
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028143_18002921.0Compositional biasNote=Glu-rich
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028149_18502921.0Compositional biasNote=Asp-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780281709_180302921.0Compositional biasNote=Thr-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282338_236102921.0Compositional biasNote=Thr-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282795_281702921.0Compositional biasNote=Pro-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282848_285302921.0Compositional biasNote=Poly-Lys
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030143_18003047.0Compositional biasNote=Glu-rich
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030149_18503047.0Compositional biasNote=Asp-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920301709_180303047.0Compositional biasNote=Thr-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302338_236103047.0Compositional biasNote=Thr-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302795_281703047.0Compositional biasNote=Pro-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302848_285303047.0Compositional biasNote=Poly-Lys
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030143_18002904.0Compositional biasNote=Glu-rich
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030149_18502904.0Compositional biasNote=Asp-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210301709_180302904.0Compositional biasNote=Thr-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302338_236102904.0Compositional biasNote=Thr-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302795_281702904.0Compositional biasNote=Pro-rich
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302848_285302904.0Compositional biasNote=Poly-Lys
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028240_30002921.0DomainDDT
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282944_301402921.0DomainBromo
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030240_30003047.0DomainDDT
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302944_301403047.0DomainBromo
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030240_30002904.0DomainDDT
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302944_301402904.0DomainBromo
TgeneBPTFchr17:65862663chr17:65871020ENST000003063780282867_291802921.0Zinc fingerPHD-type 2
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028390_43702921.0Zinc fingerPHD-type 1
TgeneBPTFchr17:65862663chr17:65871020ENST000003218920302867_291803047.0Zinc fingerPHD-type 2
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030390_43703047.0Zinc fingerPHD-type 1
TgeneBPTFchr17:65862663chr17:65871020ENST000003352210302867_291802904.0Zinc fingerPHD-type 2
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030390_43702904.0Zinc fingerPHD-type 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282022_205002921.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282706_273202921.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128574_60402921.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128978_100702921.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302022_205003047.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302706_273203047.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130574_60403047.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130978_100703047.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302022_205002904.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302706_273202904.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130574_60402904.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130978_100702904.0Coiled coilOntology_term=ECO:0000255
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128143_18002921.0Compositional biasNote=Glu-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128149_18502921.0Compositional biasNote=Asp-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1281709_180302921.0Compositional biasNote=Thr-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282338_236102921.0Compositional biasNote=Thr-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282795_281702921.0Compositional biasNote=Pro-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282848_285302921.0Compositional biasNote=Poly-Lys
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130143_18003047.0Compositional biasNote=Glu-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130149_18503047.0Compositional biasNote=Asp-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1301709_180303047.0Compositional biasNote=Thr-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302338_236103047.0Compositional biasNote=Thr-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302795_281703047.0Compositional biasNote=Pro-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302848_285303047.0Compositional biasNote=Poly-Lys
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130143_18002904.0Compositional biasNote=Glu-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130149_18502904.0Compositional biasNote=Asp-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1301709_180302904.0Compositional biasNote=Thr-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302338_236102904.0Compositional biasNote=Thr-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302795_281702904.0Compositional biasNote=Pro-rich
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302848_285302904.0Compositional biasNote=Poly-Lys
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128240_30002921.0DomainDDT
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282944_301402921.0DomainBromo
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130240_30003047.0DomainDDT
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302944_301403047.0DomainBromo
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130240_30002904.0DomainDDT
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302944_301402904.0DomainBromo
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+1282867_291802921.0Zinc fingerPHD-type 2
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128390_43702921.0Zinc fingerPHD-type 1
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+1302867_291803047.0Zinc fingerPHD-type 2
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130390_43703047.0Zinc fingerPHD-type 1
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+1302867_291802904.0Zinc fingerPHD-type 2
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130390_43702904.0Zinc fingerPHD-type 1


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Fusion Gene Sequence for BPTF-BPTF


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for BPTF-BPTF


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
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028640_74902921.0KEAP1
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030640_74903047.0KEAP1
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030640_74902904.0KEAP1
TgeneBPTFchr17:65862663chr17:65871020ENST00000306378028839_92102921.0MAZ
TgeneBPTFchr17:65862663chr17:65871020ENST00000321892030839_92103047.0MAZ
TgeneBPTFchr17:65862663chr17:65871020ENST00000335221030839_92102904.0MAZ


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128640_74902921.0KEAP1
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130640_74903047.0KEAP1
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130640_74902904.0KEAP1
HgeneBPTFchr17:65862663chr17:65871020ENST00000306378+128839_92102921.0MAZ
HgeneBPTFchr17:65862663chr17:65871020ENST00000321892+130839_92103047.0MAZ
HgeneBPTFchr17:65862663chr17:65871020ENST00000335221+130839_92102904.0MAZ


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


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Related Drugs for BPTF-BPTF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BPTF-BPTF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBPTFC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneBPTFC0005695Bladder Neoplasm1CTD_human
HgeneBPTFC3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneBPTFC4540327NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1GENOMICS_ENGLAND;UNIPROT
TgeneBPTFC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneBPTFC0005695Bladder Neoplasm1CTD_human
TgeneBPTFC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneBPTFC4540327NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1GENOMICS_ENGLAND;UNIPROT