Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BRWD1-GNAI3 (FusionGDB2 ID:HG54014TG2773)

Fusion Gene Summary for BRWD1-GNAI3

check button Fusion gene summary
Fusion gene informationFusion gene name: BRWD1-GNAI3
Fusion gene ID: hg54014tg2773
HgeneTgene
Gene symbol

BRWD1

GNAI3

Gene ID

54014

2773

Gene namebromodomain and WD repeat domain containing 1G protein subunit alpha i3
SynonymsC21orf107|DCAF19|N143|WDR9|WRD987U6|ARCND1
Cytomap('BRWD1')('GNAI3')

21q22.2

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionbromodomain and WD repeat-containing protein 1WD repeat protein WDR9-form2WD repeat-containing protein 9transcriptional unit N143guanine nucleotide-binding protein G(i) subunit alphag(i) alpha-3guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3guanine nucleotide-binding protein G(k) subunit alpha
Modification date2020031320200322
UniProtAcc.

P08754

Ensembl transtripts involved in fusion geneENST00000333229, ENST00000342449, 
ENST00000380800, ENST00000341322, 
ENST00000470108, 
Fusion gene scores* DoF score28 X 28 X 10=784033 X 8 X 14=3696
# samples 3235
** MAII scorelog2(32/7840*10)=-4.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(35/3696*10)=-3.40053792958373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRWD1 [Title/Abstract] AND GNAI3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRWD1(40670357)-GNAI3(110116358), # samples:1
Anticipated loss of major functional domain due to fusion event.BRWD1-GNAI3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BRWD1-GNAI3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BRWD1-GNAI3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BRWD1-GNAI3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneGNAI3

GO:0007193

adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway

19478087

TgeneGNAI3

GO:0007212

dopamine receptor signaling pathway

19478087

TgeneGNAI3

GO:0046039

GTP metabolic process

19478087

TgeneGNAI3

GO:0051301

cell division

17635935


check buttonFusion gene breakpoints across BRWD1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across GNAI3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4BRCATCGA-D8-A1XTBRWD1chr21

40670357

-GNAI3chr1

110116358

+


Top

Fusion Gene ORF analysis for BRWD1-GNAI3

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-frameENST00000333229ENST00000369851BRWD1chr21

40670357

-GNAI3chr1

110116358

+
In-frameENST00000342449ENST00000369851BRWD1chr21

40670357

-GNAI3chr1

110116358

+
In-frameENST00000380800ENST00000369851BRWD1chr21

40670357

-GNAI3chr1

110116358

+
intron-3CDSENST00000341322ENST00000369851BRWD1chr21

40670357

-GNAI3chr1

110116358

+
intron-3CDSENST00000470108ENST00000369851BRWD1chr21

40670357

-GNAI3chr1

110116358

+

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)
ENST00000333229BRWD1chr2140670357-ENST00000369851GNAI3chr1110116358+36556772351623462
ENST00000342449BRWD1chr2140670357-ENST00000369851GNAI3chr1110116358+3406428791374431
ENST00000380800BRWD1chr2140670357-ENST00000369851GNAI3chr1110116358+342644861394462

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
ENST00000333229ENST00000369851BRWD1chr2140670357-GNAI3chr1110116358+0.0002034610.99979657
ENST00000342449ENST00000369851BRWD1chr2140670357-GNAI3chr1110116358+0.0001863990.9998136
ENST00000380800ENST00000369851BRWD1chr2140670357-GNAI3chr1110116358+0.0001849750.99981505

Top

Fusion Genomic Features for BRWD1-GNAI3


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)
BRWD1chr2140670357-GNAI3chr1110116358+3.14E-091
BRWD1chr2140670357-GNAI3chr1110116358+3.14E-091

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.
genomic feature

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.
genomic feature of top 1%

Top

Fusion Protein Features for BRWD1-GNAI3


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr21:40670357/chr1:110116358)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.GNAI3

P08754

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is 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, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935). {ECO:0000269|PubMed:17635935, ECO:0000269|PubMed:18434541, ECO:0000269|PubMed:2535845, ECO:0000269|PubMed:8774883}.

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
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109150_15139948.6666666666666Nucleotide bindingGTP
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109175_18139948.6666666666666Nucleotide bindingGTP
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109200_20439948.6666666666666Nucleotide bindingGTP
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109269_27239948.6666666666666Nucleotide bindingGTP
TgeneGNAI3chr21:40670357chr1:110116358ENST000003698510943_4839948.6666666666666Nucleotide bindingGTP
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109173_18139948.6666666666666RegionG2 motif
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109196_20539948.6666666666666RegionG3 motif
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109265_27239948.6666666666666RegionG4 motif
TgeneGNAI3chr21:40670357chr1:110116358ENST0000036985109324_32939948.6666666666666RegionG5 motif

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-5421539_15481162321.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-5421687_16921162321.0Compositional biasNote=Poly-Glu
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542661_6681162321.0Compositional biasNote=Poly-Gln
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542821_8241162321.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-151539_15480121.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-151687_16920121.0Compositional biasNote=Poly-Glu
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15661_6680121.0Compositional biasNote=Poly-Gln
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15821_8240121.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-5411539_15481162270.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-5411687_16921162270.0Compositional biasNote=Poly-Glu
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541661_6681162270.0Compositional biasNote=Poly-Gln
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541821_8241162270.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-5421539_15481162200.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-5421687_16921162200.0Compositional biasNote=Poly-Glu
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542661_6681162200.0Compositional biasNote=Poly-Gln
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542821_8241162200.0Compositional biasNote=Poly-Ser
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-5421177_12471162321.0DomainBromo 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-5421330_14001162321.0DomainBromo 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-151177_12470121.0DomainBromo 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-151330_14000121.0DomainBromo 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-5411177_12471162270.0DomainBromo 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-5411330_14001162270.0DomainBromo 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-5421177_12471162200.0DomainBromo 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-5421330_14001162200.0DomainBromo 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542184_2231162321.0RepeatNote=WD 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542226_2651162321.0RepeatNote=WD 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542268_3111162321.0RepeatNote=WD 3
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542322_3651162321.0RepeatNote=WD 4
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542366_4051162321.0RepeatNote=WD 5
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542424_4631162321.0RepeatNote=WD 6
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542466_5061162321.0RepeatNote=WD 7
HgeneBRWD1chr21:40670357chr1:110116358ENST00000333229-542514_5531162321.0RepeatNote=WD 8
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15184_2230121.0RepeatNote=WD 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15226_2650121.0RepeatNote=WD 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15268_3110121.0RepeatNote=WD 3
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15322_3650121.0RepeatNote=WD 4
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15366_4050121.0RepeatNote=WD 5
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15424_4630121.0RepeatNote=WD 6
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15466_5060121.0RepeatNote=WD 7
HgeneBRWD1chr21:40670357chr1:110116358ENST00000341322-15514_5530121.0RepeatNote=WD 8
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541184_2231162270.0RepeatNote=WD 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541226_2651162270.0RepeatNote=WD 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541268_3111162270.0RepeatNote=WD 3
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541322_3651162270.0RepeatNote=WD 4
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541366_4051162270.0RepeatNote=WD 5
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541424_4631162270.0RepeatNote=WD 6
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541466_5061162270.0RepeatNote=WD 7
HgeneBRWD1chr21:40670357chr1:110116358ENST00000342449-541514_5531162270.0RepeatNote=WD 8
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542184_2231162200.0RepeatNote=WD 1
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542226_2651162200.0RepeatNote=WD 2
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542268_3111162200.0RepeatNote=WD 3
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542322_3651162200.0RepeatNote=WD 4
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542366_4051162200.0RepeatNote=WD 5
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542424_4631162200.0RepeatNote=WD 6
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542466_5061162200.0RepeatNote=WD 7
HgeneBRWD1chr21:40670357chr1:110116358ENST00000380800-542514_5531162200.0RepeatNote=WD 8
TgeneGNAI3chr21:40670357chr1:110116358ENST000003698510932_35439948.6666666666666DomainG-alpha
TgeneGNAI3chr21:40670357chr1:110116358ENST000003698510935_4839948.6666666666666RegionG1 motif


Top

Fusion Gene Sequence for BRWD1-GNAI3


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.
>10346_10346_1_BRWD1-GNAI3_BRWD1_chr21_40670357_ENST00000333229_GNAI3_chr1_110116358_ENST00000369851_length(transcript)=3655nt_BP=677nt
AGGTCTTTGCCTCCGCGTCACTTTCTCCTCATCGAGTCCCCGGAGGCAGAGAGCTGAGCGAGGTTCGCCTCCCCGGGCGGGACACGAGCT
CCGGTCCTCTCTTGGCGCAAACCCCCGCCCCCCGCGGAGGGACTACTTTTCGTCTCCCGCGGAGGAACTACTTCCTCCCCCGCGGAGGCG
TCGGTCCAGGCGGCGCGCACGGTATGGCGGCGGCGGCGGCGGCGGCGGCGCGCGCCTGAGAAGAGGGGACGCCAGCCCGGTCAGGCCTCG
GCGCGGCCTACACGCTCCGCTCGCTCGCTCGCTCCCGCCTCCCGCCCCGCGCCCGGCCATGGCGGAGCCGTCGTCCGCCCGACGCCCGGT
GCCTCTCATCGAGTCGGAGCTGTACTTCCTTATCGCCCGGTACCTATCGGCGGGCCCGTGTCGGAGAGCGGCCCAGGTGCTGGTGCAGGA
GCTGGAGCAGTACCAGTTGTTGCCGAAGAGATTGGACTGGGAGGGCAACGAGCACAACAGGAGCTACGAGGAGTTGGTCTTGTCCAATAA
GCATGTGGCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTGGATAAAGAAATTCCACCCAGTATTTCAAGAGTCAC
TTCTTTACTTGGTGCAGGAAGGCAGTCTTTGCTACGTACAGCAAAAGGTGCTGGAGAATCTGGTAAAAGCACCATTGTGAAACAGATGAA
AATCATTCATGAGGATGGCTATTCAGAGGATGAATGTAAACAATATAAAGTAGTTGTCTACAGCAATACTATACAGTCCATCATTGCAAT
CATAAGAGCCATGGGACGGCTAAAGATTGACTTTGGGGAAGCTGCCAGGGCAGATGATGCCCGGCAATTATTTGTTTTAGCTGGCAGTGC
TGAAGAAGGAGTCATGACTCCAGAACTAGCAGGAGTGATTAAACGGTTATGGCGAGATGGTGGGGTACAAGCTTGCTTCAGCAGATCCAG
GGAATATCAGCTCAATGATTCTGCTTCATATTATCTAAATGATCTGGATAGAATATCCCAGTCTAACTACATTCCAACTCAGCAAGATGT
TCTTCGGACGAGAGTGAAGACCACAGGCATTGTAGAAACACATTTCACCTTCAAAGACCTATACTTCAAGATGTTTGATGTAGGTGGCCA
AAGATCAGAACGAAAAAAGTGGATTCACTGTTTTGAGGGAGTGACAGCAATTATCTTCTGTGTGGCCCTCAGTGATTATGACCTTGTTCT
GGCTGAGGACGAGGAGATGAACCGAATGCATGAAAGCATGAAACTGTTTGACAGCATTTGTAATAACAAATGGTTTACAGAAACTTCAAT
CATTCTCTTCCTTAACAAGAAAGACCTTTTTGAGGAAAAAATAAAGAGGAGTCCGTTAACTATCTGTTATCCAGAATACACAGGTTCCAA
TACATATGAAGAGGCAGCTGCCTATATTCAATGCCAGTTTGAAGATCTGAACAGAAGAAAAGATACCAAGGAGATCTATACTCACTTCAC
CTGTGCCACAGACACGAAGAATGTGCAGTTTGTTTTTGATGCTGTTACAGATGTCATCATTAAAAACAACTTAAAGGAATGTGGACTTTA
TTGAGAAGCATGGATGTTAGTGAAAGTTACTACAGTGTGGAGTGTTGAGACCAGACACCTTTTGCTGTCTCATGGGGCAGCTACAAGCAT
GAACGGGACCAGGGAATGGCAGCAGCATGCAGAATCTTAGCACTCTTTAGCACAATATTTTGTATTAGGGAACTTTTAATTGACATGAGA
TGCTAAAGTCAGACATTGGAATTGGAAGAACTATAAAGTGTGATTCGATCGTCAAGACATCACTTGGATTTCTTAATCTTAAATGCTTAT
GGAAGATGTGAAGTTGAGGTGCTGCATTCTAGAACTTCAATATGTAGCTTACTCTTTTTTTCCCCCCTTCTTAAACCACCAGTGGTTCAT
TTTTAAGGTTTTTTCATCAAGAGAAGAATAACTTTACTAAATTTTATTTCTTTATTTGCAAAAGAATCTTTATTAAAACAAACAATCTTA
ACTATGCACATGATGTGACCAGATCATCTTGAAAATATTCCTCTTTAGTAGGAACTCTTTGTTTTTAACTCTTGGTATGGTCAGAATATA
ATACTTCCATAATTACTTATAATTCTTTCCGGTTACTGGGGCTATAAATACAACTTTTTAAATGAAATTTATGTTATTATCCTGCTCAAA
GTACCATTATGGTTTCCATATGGTAATTACATTGGAAAGTTCTGCAATAAGATTCTAGTTCTCTCTTTTCTTTAAGCTTATGGTTGAAGG
TTAACCTTGTTTGTGCAGATTACCAAATTACTGCTGATGTAGTATGATAAAGTCAGCTTCTTGGATACAGACACACCCAGGGCAGCTGCC
AATCAGAAATGCAAATTGCTAAATTCCAAACAGAACCAGTGACTTTGCTGCTACATATTTACTAAATTGACCACTTTGATTCTTGCTTGT
TTGTCTCAGTTATAGGGAGTTTTGTACATGGTGCCTCTTGTTTTCCATCTTCATGGCCTTTTCTGTTGAGAAACATCTAAAGTGTATTAA
CAGTGCATGCTTTTACTTTGTAAATGTGGTGCCAAATCCCTGTTTGCCATCGTTTTTACTGTACCGATGTTAACTGTAGTAATCCTTAGC
CAGTATGTTCTTTTGCTGAAACTGTTGCATTTTGGGACTTTTTTCCACTTTGTCATGTGTACATTTTTAATCTGTTATAGTTGGCGGCAG
TATTAAAATGGTGAGTAAAGAGCCCAGGTTTGCTCCTGTTTGTAACTAGTCTTTTCTGGAAATACTGTCTTCTGTTTCCTTTTGCCTTTG
CAGAATGTGCTTTAGCCTTTGTCTGAGAATGGGTTTAGGTAGAAGGGTTTCCTGAAAGTCTAGTCTTTTGGTGTAATAGTATTGTTGAAC
CTTAGGTTTTATGTTATATCTGCATATGAGTGATATGTGATCATGATTCATTTTGCAGATTTACATTTTGCTTGTGTGGAAAGTTACGTT
CACTTCAACCTACAGACCCTTTTGTATAATGTACAGCAAATGTCATTAAATATTGAATGCTCTATTGGGGGAAGACAAATGAAGAGAATG
CATTTTGAGCATTTCAAATCAGTAGTTTGGGCAGTGCCTTTTGGGGTCCAATCTTTTTGGATTGGATTCTATTTCATCTTTTGATGTGAC
TTTTCACTAGTTTACAAAAAAAAGGTTGGTGGTCAACAAAAAAAGCAAGTCATAGCAGTTCAGTGCCTTTGTTGGTAGTTTTTAACTTTT
TTTGTGATTCTTTTTGGAAAATCATAGCTTACAGATGGTATAACTGTATTATATAATGGAATTTTCTTTAGGTGTGGGAAAACTTGATCT
GAAAGAAAATTATCAGCTTCAATTGGCGATTGATTCAGTGCCCACAATGTAAACAGGGTTGGTAGTTGTTACTCATTTTGAATATACCTT
TTCCTTATTGTATTCTGTAATATAGGATCCTGGAAATGAGACCTGGTGGAATATTATTTTCAACTGTAGTCTTTCTATACTGTGGACTAA
TGAAATGGTGTTGTTGATAATCTAAAATAACCAATAATCCAAAAAAGTTCATTTT

>10346_10346_1_BRWD1-GNAI3_BRWD1_chr21_40670357_ENST00000333229_GNAI3_chr1_110116358_ENST00000369851_length(amino acids)=462AA_BP=147
MRRGDASPVRPRRGLHAPLARSLPPPAPRPAMAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEH
NRSYEELVLSNKHVAPDHLLQICQRIGPMLDKEIPPSISRVTSLLGAGRQSLLRTAKGAGESGKSTIVKQMKIIHEDGYSEDECKQYKVV
VYSNTIQSIIAIIRAMGRLKIDFGEAARADDARQLFVLAGSAEEGVMTPELAGVIKRLWRDGGVQACFSRSREYQLNDSASYYLNDLDRI
SQSNYIPTQQDVLRTRVKTTGIVETHFTFKDLYFKMFDVGGQRSERKKWIHCFEGVTAIIFCVALSDYDLVLAEDEEMNRMHESMKLFDS
ICNNKWFTETSIILFLNKKDLFEEKIKRSPLTICYPEYTGSNTYEEAAAYIQCQFEDLNRRKDTKEIYTHFTCATDTKNVQFVFDAVTDV
IIKNNLKECGLY

--------------------------------------------------------------
>10346_10346_2_BRWD1-GNAI3_BRWD1_chr21_40670357_ENST00000342449_GNAI3_chr1_110116358_ENST00000369851_length(transcript)=3406nt_BP=428nt
CGCCAGCCCGGTCAGGCCTCGGCGCGGCCTACACGCTCCGCTCGCTCGCTCGCTCCCGCCTCCCGCCCCGCGCCCGGCCATGGCGGAGCC
GTCGTCCGCCCGACGCCCGGTGCCTCTCATCGAGTCGGAGCTGTACTTCCTTATCGCCCGGTACCTATCGGCGGGCCCGTGTCGGAGAGC
GGCCCAGGTGCTGGTGCAGGAGCTGGAGCAGTACCAGTTGTTGCCGAAGAGATTGGACTGGGAGGGCAACGAGCACAACAGGAGCTACGA
GGAGTTGGTCTTGTCCAATAAGCATGTGGCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTGGATAAAGAAATTCC
ACCCAGTATTTCAAGAGTCACTTCTTTACTTGGTGCAGGAAGGCAGTCTTTGCTACGTACAGCAAAAGGTGCTGGAGAATCTGGTAAAAG
CACCATTGTGAAACAGATGAAAATCATTCATGAGGATGGCTATTCAGAGGATGAATGTAAACAATATAAAGTAGTTGTCTACAGCAATAC
TATACAGTCCATCATTGCAATCATAAGAGCCATGGGACGGCTAAAGATTGACTTTGGGGAAGCTGCCAGGGCAGATGATGCCCGGCAATT
ATTTGTTTTAGCTGGCAGTGCTGAAGAAGGAGTCATGACTCCAGAACTAGCAGGAGTGATTAAACGGTTATGGCGAGATGGTGGGGTACA
AGCTTGCTTCAGCAGATCCAGGGAATATCAGCTCAATGATTCTGCTTCATATTATCTAAATGATCTGGATAGAATATCCCAGTCTAACTA
CATTCCAACTCAGCAAGATGTTCTTCGGACGAGAGTGAAGACCACAGGCATTGTAGAAACACATTTCACCTTCAAAGACCTATACTTCAA
GATGTTTGATGTAGGTGGCCAAAGATCAGAACGAAAAAAGTGGATTCACTGTTTTGAGGGAGTGACAGCAATTATCTTCTGTGTGGCCCT
CAGTGATTATGACCTTGTTCTGGCTGAGGACGAGGAGATGAACCGAATGCATGAAAGCATGAAACTGTTTGACAGCATTTGTAATAACAA
ATGGTTTACAGAAACTTCAATCATTCTCTTCCTTAACAAGAAAGACCTTTTTGAGGAAAAAATAAAGAGGAGTCCGTTAACTATCTGTTA
TCCAGAATACACAGGTTCCAATACATATGAAGAGGCAGCTGCCTATATTCAATGCCAGTTTGAAGATCTGAACAGAAGAAAAGATACCAA
GGAGATCTATACTCACTTCACCTGTGCCACAGACACGAAGAATGTGCAGTTTGTTTTTGATGCTGTTACAGATGTCATCATTAAAAACAA
CTTAAAGGAATGTGGACTTTATTGAGAAGCATGGATGTTAGTGAAAGTTACTACAGTGTGGAGTGTTGAGACCAGACACCTTTTGCTGTC
TCATGGGGCAGCTACAAGCATGAACGGGACCAGGGAATGGCAGCAGCATGCAGAATCTTAGCACTCTTTAGCACAATATTTTGTATTAGG
GAACTTTTAATTGACATGAGATGCTAAAGTCAGACATTGGAATTGGAAGAACTATAAAGTGTGATTCGATCGTCAAGACATCACTTGGAT
TTCTTAATCTTAAATGCTTATGGAAGATGTGAAGTTGAGGTGCTGCATTCTAGAACTTCAATATGTAGCTTACTCTTTTTTTCCCCCCTT
CTTAAACCACCAGTGGTTCATTTTTAAGGTTTTTTCATCAAGAGAAGAATAACTTTACTAAATTTTATTTCTTTATTTGCAAAAGAATCT
TTATTAAAACAAACAATCTTAACTATGCACATGATGTGACCAGATCATCTTGAAAATATTCCTCTTTAGTAGGAACTCTTTGTTTTTAAC
TCTTGGTATGGTCAGAATATAATACTTCCATAATTACTTATAATTCTTTCCGGTTACTGGGGCTATAAATACAACTTTTTAAATGAAATT
TATGTTATTATCCTGCTCAAAGTACCATTATGGTTTCCATATGGTAATTACATTGGAAAGTTCTGCAATAAGATTCTAGTTCTCTCTTTT
CTTTAAGCTTATGGTTGAAGGTTAACCTTGTTTGTGCAGATTACCAAATTACTGCTGATGTAGTATGATAAAGTCAGCTTCTTGGATACA
GACACACCCAGGGCAGCTGCCAATCAGAAATGCAAATTGCTAAATTCCAAACAGAACCAGTGACTTTGCTGCTACATATTTACTAAATTG
ACCACTTTGATTCTTGCTTGTTTGTCTCAGTTATAGGGAGTTTTGTACATGGTGCCTCTTGTTTTCCATCTTCATGGCCTTTTCTGTTGA
GAAACATCTAAAGTGTATTAACAGTGCATGCTTTTACTTTGTAAATGTGGTGCCAAATCCCTGTTTGCCATCGTTTTTACTGTACCGATG
TTAACTGTAGTAATCCTTAGCCAGTATGTTCTTTTGCTGAAACTGTTGCATTTTGGGACTTTTTTCCACTTTGTCATGTGTACATTTTTA
ATCTGTTATAGTTGGCGGCAGTATTAAAATGGTGAGTAAAGAGCCCAGGTTTGCTCCTGTTTGTAACTAGTCTTTTCTGGAAATACTGTC
TTCTGTTTCCTTTTGCCTTTGCAGAATGTGCTTTAGCCTTTGTCTGAGAATGGGTTTAGGTAGAAGGGTTTCCTGAAAGTCTAGTCTTTT
GGTGTAATAGTATTGTTGAACCTTAGGTTTTATGTTATATCTGCATATGAGTGATATGTGATCATGATTCATTTTGCAGATTTACATTTT
GCTTGTGTGGAAAGTTACGTTCACTTCAACCTACAGACCCTTTTGTATAATGTACAGCAAATGTCATTAAATATTGAATGCTCTATTGGG
GGAAGACAAATGAAGAGAATGCATTTTGAGCATTTCAAATCAGTAGTTTGGGCAGTGCCTTTTGGGGTCCAATCTTTTTGGATTGGATTC
TATTTCATCTTTTGATGTGACTTTTCACTAGTTTACAAAAAAAAGGTTGGTGGTCAACAAAAAAAGCAAGTCATAGCAGTTCAGTGCCTT
TGTTGGTAGTTTTTAACTTTTTTTGTGATTCTTTTTGGAAAATCATAGCTTACAGATGGTATAACTGTATTATATAATGGAATTTTCTTT
AGGTGTGGGAAAACTTGATCTGAAAGAAAATTATCAGCTTCAATTGGCGATTGATTCAGTGCCCACAATGTAAACAGGGTTGGTAGTTGT
TACTCATTTTGAATATACCTTTTCCTTATTGTATTCTGTAATATAGGATCCTGGAAATGAGACCTGGTGGAATATTATTTTCAACTGTAG
TCTTTCTATACTGTGGACTAATGAAATGGTGTTGTTGATAATCTAAAATAACCAATAATCCAAAAAAGTTCATTTT

>10346_10346_2_BRWD1-GNAI3_BRWD1_chr21_40670357_ENST00000342449_GNAI3_chr1_110116358_ENST00000369851_length(amino acids)=431AA_BP=116
MAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEHNRSYEELVLSNKHVAPDHLLQICQRIGPMLD
KEIPPSISRVTSLLGAGRQSLLRTAKGAGESGKSTIVKQMKIIHEDGYSEDECKQYKVVVYSNTIQSIIAIIRAMGRLKIDFGEAARADD
ARQLFVLAGSAEEGVMTPELAGVIKRLWRDGGVQACFSRSREYQLNDSASYYLNDLDRISQSNYIPTQQDVLRTRVKTTGIVETHFTFKD
LYFKMFDVGGQRSERKKWIHCFEGVTAIIFCVALSDYDLVLAEDEEMNRMHESMKLFDSICNNKWFTETSIILFLNKKDLFEEKIKRSPL
TICYPEYTGSNTYEEAAAYIQCQFEDLNRRKDTKEIYTHFTCATDTKNVQFVFDAVTDVIIKNNLKECGLY

--------------------------------------------------------------
>10346_10346_3_BRWD1-GNAI3_BRWD1_chr21_40670357_ENST00000380800_GNAI3_chr1_110116358_ENST00000369851_length(transcript)=3426nt_BP=448nt
GCGCGCCTGAGAAGAGGGGACGCCAGCCCGGTCAGGCCTCGGCGCGGCCTACACGCTCCGCTCGCTCGCTCGCTCCCGCCTCCCGCCCCG
CGCCCGGCCATGGCGGAGCCGTCGTCCGCCCGACGCCCGGTGCCTCTCATCGAGTCGGAGCTGTACTTCCTTATCGCCCGGTACCTATCG
GCGGGCCCGTGTCGGAGAGCGGCCCAGGTGCTGGTGCAGGAGCTGGAGCAGTACCAGTTGTTGCCGAAGAGATTGGACTGGGAGGGCAAC
GAGCACAACAGGAGCTACGAGGAGTTGGTCTTGTCCAATAAGCATGTGGCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCT
ATGTTGGATAAAGAAATTCCACCCAGTATTTCAAGAGTCACTTCTTTACTTGGTGCAGGAAGGCAGTCTTTGCTACGTACAGCAAAAGGT
GCTGGAGAATCTGGTAAAAGCACCATTGTGAAACAGATGAAAATCATTCATGAGGATGGCTATTCAGAGGATGAATGTAAACAATATAAA
GTAGTTGTCTACAGCAATACTATACAGTCCATCATTGCAATCATAAGAGCCATGGGACGGCTAAAGATTGACTTTGGGGAAGCTGCCAGG
GCAGATGATGCCCGGCAATTATTTGTTTTAGCTGGCAGTGCTGAAGAAGGAGTCATGACTCCAGAACTAGCAGGAGTGATTAAACGGTTA
TGGCGAGATGGTGGGGTACAAGCTTGCTTCAGCAGATCCAGGGAATATCAGCTCAATGATTCTGCTTCATATTATCTAAATGATCTGGAT
AGAATATCCCAGTCTAACTACATTCCAACTCAGCAAGATGTTCTTCGGACGAGAGTGAAGACCACAGGCATTGTAGAAACACATTTCACC
TTCAAAGACCTATACTTCAAGATGTTTGATGTAGGTGGCCAAAGATCAGAACGAAAAAAGTGGATTCACTGTTTTGAGGGAGTGACAGCA
ATTATCTTCTGTGTGGCCCTCAGTGATTATGACCTTGTTCTGGCTGAGGACGAGGAGATGAACCGAATGCATGAAAGCATGAAACTGTTT
GACAGCATTTGTAATAACAAATGGTTTACAGAAACTTCAATCATTCTCTTCCTTAACAAGAAAGACCTTTTTGAGGAAAAAATAAAGAGG
AGTCCGTTAACTATCTGTTATCCAGAATACACAGGTTCCAATACATATGAAGAGGCAGCTGCCTATATTCAATGCCAGTTTGAAGATCTG
AACAGAAGAAAAGATACCAAGGAGATCTATACTCACTTCACCTGTGCCACAGACACGAAGAATGTGCAGTTTGTTTTTGATGCTGTTACA
GATGTCATCATTAAAAACAACTTAAAGGAATGTGGACTTTATTGAGAAGCATGGATGTTAGTGAAAGTTACTACAGTGTGGAGTGTTGAG
ACCAGACACCTTTTGCTGTCTCATGGGGCAGCTACAAGCATGAACGGGACCAGGGAATGGCAGCAGCATGCAGAATCTTAGCACTCTTTA
GCACAATATTTTGTATTAGGGAACTTTTAATTGACATGAGATGCTAAAGTCAGACATTGGAATTGGAAGAACTATAAAGTGTGATTCGAT
CGTCAAGACATCACTTGGATTTCTTAATCTTAAATGCTTATGGAAGATGTGAAGTTGAGGTGCTGCATTCTAGAACTTCAATATGTAGCT
TACTCTTTTTTTCCCCCCTTCTTAAACCACCAGTGGTTCATTTTTAAGGTTTTTTCATCAAGAGAAGAATAACTTTACTAAATTTTATTT
CTTTATTTGCAAAAGAATCTTTATTAAAACAAACAATCTTAACTATGCACATGATGTGACCAGATCATCTTGAAAATATTCCTCTTTAGT
AGGAACTCTTTGTTTTTAACTCTTGGTATGGTCAGAATATAATACTTCCATAATTACTTATAATTCTTTCCGGTTACTGGGGCTATAAAT
ACAACTTTTTAAATGAAATTTATGTTATTATCCTGCTCAAAGTACCATTATGGTTTCCATATGGTAATTACATTGGAAAGTTCTGCAATA
AGATTCTAGTTCTCTCTTTTCTTTAAGCTTATGGTTGAAGGTTAACCTTGTTTGTGCAGATTACCAAATTACTGCTGATGTAGTATGATA
AAGTCAGCTTCTTGGATACAGACACACCCAGGGCAGCTGCCAATCAGAAATGCAAATTGCTAAATTCCAAACAGAACCAGTGACTTTGCT
GCTACATATTTACTAAATTGACCACTTTGATTCTTGCTTGTTTGTCTCAGTTATAGGGAGTTTTGTACATGGTGCCTCTTGTTTTCCATC
TTCATGGCCTTTTCTGTTGAGAAACATCTAAAGTGTATTAACAGTGCATGCTTTTACTTTGTAAATGTGGTGCCAAATCCCTGTTTGCCA
TCGTTTTTACTGTACCGATGTTAACTGTAGTAATCCTTAGCCAGTATGTTCTTTTGCTGAAACTGTTGCATTTTGGGACTTTTTTCCACT
TTGTCATGTGTACATTTTTAATCTGTTATAGTTGGCGGCAGTATTAAAATGGTGAGTAAAGAGCCCAGGTTTGCTCCTGTTTGTAACTAG
TCTTTTCTGGAAATACTGTCTTCTGTTTCCTTTTGCCTTTGCAGAATGTGCTTTAGCCTTTGTCTGAGAATGGGTTTAGGTAGAAGGGTT
TCCTGAAAGTCTAGTCTTTTGGTGTAATAGTATTGTTGAACCTTAGGTTTTATGTTATATCTGCATATGAGTGATATGTGATCATGATTC
ATTTTGCAGATTTACATTTTGCTTGTGTGGAAAGTTACGTTCACTTCAACCTACAGACCCTTTTGTATAATGTACAGCAAATGTCATTAA
ATATTGAATGCTCTATTGGGGGAAGACAAATGAAGAGAATGCATTTTGAGCATTTCAAATCAGTAGTTTGGGCAGTGCCTTTTGGGGTCC
AATCTTTTTGGATTGGATTCTATTTCATCTTTTGATGTGACTTTTCACTAGTTTACAAAAAAAAGGTTGGTGGTCAACAAAAAAAGCAAG
TCATAGCAGTTCAGTGCCTTTGTTGGTAGTTTTTAACTTTTTTTGTGATTCTTTTTGGAAAATCATAGCTTACAGATGGTATAACTGTAT
TATATAATGGAATTTTCTTTAGGTGTGGGAAAACTTGATCTGAAAGAAAATTATCAGCTTCAATTGGCGATTGATTCAGTGCCCACAATG
TAAACAGGGTTGGTAGTTGTTACTCATTTTGAATATACCTTTTCCTTATTGTATTCTGTAATATAGGATCCTGGAAATGAGACCTGGTGG
AATATTATTTTCAACTGTAGTCTTTCTATACTGTGGACTAATGAAATGGTGTTGTTGATAATCTAAAATAACCAATAATCCAAAAAAGTT
CATTTT

>10346_10346_3_BRWD1-GNAI3_BRWD1_chr21_40670357_ENST00000380800_GNAI3_chr1_110116358_ENST00000369851_length(amino acids)=462AA_BP=147
MRRGDASPVRPRRGLHAPLARSLPPPAPRPAMAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEH
NRSYEELVLSNKHVAPDHLLQICQRIGPMLDKEIPPSISRVTSLLGAGRQSLLRTAKGAGESGKSTIVKQMKIIHEDGYSEDECKQYKVV
VYSNTIQSIIAIIRAMGRLKIDFGEAARADDARQLFVLAGSAEEGVMTPELAGVIKRLWRDGGVQACFSRSREYQLNDSASYYLNDLDRI
SQSNYIPTQQDVLRTRVKTTGIVETHFTFKDLYFKMFDVGGQRSERKKWIHCFEGVTAIIFCVALSDYDLVLAEDEEMNRMHESMKLFDS
ICNNKWFTETSIILFLNKKDLFEEKIKRSPLTICYPEYTGSNTYEEAAAYIQCQFEDLNRRKDTKEIYTHFTCATDTKNVQFVFDAVTDV
IIKNNLKECGLY

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for BRWD1-GNAI3


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


Top

Related Drugs for BRWD1-GNAI3


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

Top

Related Diseases for BRWD1-GNAI3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBRWD1C0028960Oligospermia1CTD_human
TgeneC4551996Auriculocondylar syndrome 14CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002622Amnesia1CTD_human
TgeneC0078917Albinism, Ocular1GENOMICS_ENGLAND
TgeneC0152423Congenital small ears1GENOMICS_ENGLAND
TgeneC0233750Hysterical amnesia1CTD_human
TgeneC0233796Temporary Amnesia1CTD_human
TgeneC0236795Dissociative Amnesia1CTD_human
TgeneC0262497Global Amnesia1CTD_human
TgeneC0750906Tactile Amnesia1CTD_human
TgeneC0750907Amnestic State1CTD_human
TgeneC1865295Auriculo-condylar syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC1876185Dysgnathia complex1GENOMICS_ENGLAND