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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:AGPAT5-FDFT1 (FusionGDB2 ID:HG55326TG2222)

Fusion Gene Summary for AGPAT5-FDFT1

check button Fusion gene summary
Fusion gene informationFusion gene name: AGPAT5-FDFT1
Fusion gene ID: hg55326tg2222
HgeneTgene
Gene symbol

AGPAT5

FDFT1

Gene ID

55326

2222

Gene name1-acylglycerol-3-phosphate O-acyltransferase 5farnesyl-diphosphate farnesyltransferase 1
Synonyms1AGPAT5|LPAATEDGPT|ERG9|SQS|SQSD|SS
Cytomap('AGPAT5')('FDFT1')

8p23.1

8p23.1

Type of geneprotein-codingprotein-coding
Description1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon1-AGP acyltransferase 51-AGPAT 51-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)lysophosphatidic acid acyltransferase epsilontesticular tissue proteisqualene synthaseFPP:FPP farnesyltransferasepresqualene-di-diphosphate synthasesqualene synthetase
Modification date2020031320200320
UniProtAcc

Q9NUQ2

P37268

Ensembl transtripts involved in fusion geneENST00000285518, ENST00000530716, 
Fusion gene scores* DoF score9 X 7 X 6=37812 X 9 X 5=540
# samples 911
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGPAT5 [Title/Abstract] AND FDFT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGPAT5(6590171)-FDFT1(11689027), # samples:1
Anticipated loss of major functional domain due to fusion event.AGPAT5-FDFT1 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.
AGPAT5-FDFT1 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

check buttonFusion gene breakpoints across AGPAT5 (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 FDFT1 (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
ChimerDB4STADTCGA-BR-8372-01AAGPAT5chr8

6590171

+FDFT1chr8

11689027

+


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Fusion Gene ORF analysis for AGPAT5-FDFT1

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
5CDS-3UTRENST00000285518ENST00000443614AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
5CDS-3UTRENST00000285518ENST00000446331AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
5CDS-3UTRENST00000285518ENST00000525777AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
5CDS-3UTRENST00000285518ENST00000525900AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
5CDS-3UTRENST00000285518ENST00000528643AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
5CDS-3UTRENST00000285518ENST00000528812AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
5CDS-3UTRENST00000285518ENST00000530664AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
In-frameENST00000285518ENST00000220584AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
In-frameENST00000285518ENST00000538689AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3CDSENST00000530716ENST00000220584AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3CDSENST00000530716ENST00000538689AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000443614AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000446331AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000525777AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000525900AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000528643AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000528812AGPAT5chr8

6590171

+FDFT1chr8

11689027

+
intron-3UTRENST00000530716ENST00000530664AGPAT5chr8

6590171

+FDFT1chr8

11689027

+

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)
ENST00000285518AGPAT5chr86590171+ENST00000538689FDFT1chr811689027+15408072311181316
ENST00000285518AGPAT5chr86590171+ENST00000220584FDFT1chr811689027+18828072311181316

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
ENST00000285518ENST00000538689AGPAT5chr86590171+FDFT1chr811689027+0.0023132430.99768674
ENST00000285518ENST00000220584AGPAT5chr86590171+FDFT1chr811689027+0.0012986080.99870133

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Fusion Genomic Features for AGPAT5-FDFT1


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)
AGPAT5chr86590171+FDFT1chr811689026+2.58E-121
AGPAT5chr86590171+FDFT1chr811689026+2.58E-121

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%

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Fusion Protein Features for AGPAT5-FDFT1


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/chr8:6590171/chr8:11689027)
- 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
AGPAT5

Q9NUQ2

FDFT1

P37268

FUNCTION: Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor (PubMed:21173190). Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl-CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA (PubMed:21173190). Activity toward lysophosphatidylglycerol not detectable (PubMed:21173190). {ECO:0000269|PubMed:21173190}.FUNCTION: Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway. {ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458}.

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
HgeneAGPAT5chr8:6590171chr8:11689027ENST00000285518+4893_98165365.0MotifHXXXXD motif
HgeneAGPAT5chr8:6590171chr8:11689027ENST00000285518+4815_35165365.0TransmembraneHelical
HgeneAGPAT5chr8:6590171chr8:11689027ENST00000285518+4861_81165365.0TransmembraneHelical
TgeneFDFT1chr8:6590171chr8:11689027ENST0000022058458384_404293418.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGPAT5chr8:6590171chr8:11689027ENST00000285518+48344_364165365.0TransmembraneHelical
TgeneFDFT1chr8:6590171chr8:11689027ENST0000022058458284_304293418.0TransmembraneHelical


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Fusion Gene Sequence for AGPAT5-FDFT1


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.
>2963_2963_1_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000220584_length(transcript)=1882nt_BP=807nt
CGGAGCCCCCTGCCCCGGCAGGGGGATGTGGCGATGGGTGAGGGTCATGGGGTGTGAGCATCCCTGAGCCATCGATCCGGGAGGGCCGCG
GGTTCCCTTGCTTTGCCGCCGGGAGCGGCGCACGCAGCCCCGCACTCGCCTACCCGGCCCCGGGCGGCGGCGCGGCCCATGCGGCTGGGG
GCGGAGGCTGGGAGCGGGTGGCGGGCGCGGCGGCCCGGGCCCGGGCGGTGATTGGCCGCCTGCTGGCCGCGACTGAGGCCCGGGAGGCGG
GCGGGGAGCGCAGGCGGAGCTCGCTGCCGCCGAGCTGAGAAGATGCTGCTGTCCCTGGTGCTCCACACGTACTCCATGCGCTACCTGCTG
CCCAGCGTCGTGCTCCTGGGCACGGCGCCCACCTACGTGTTGGCCTGGGGGGTCTGGCGGCTGCTCTCCGCCTTCCTGCCCGCCCGCTTC
TACCAAGCGCTGGACGACCGGCTCTACTGCGTCTACCAGAGCATGGTGCTCTTCTTCTTCGAGAATTACACCGGGGTCCAGATATTGCTA
TATGGAGATTTGCCAAAAAATAAAGAAAATATAATATATTTAGCAAATCATCAAAGCACAGTTGACTGGATTGTTGCTGACATCTTGGCC
ATCAGGCAGAATGCGCTAGGACATGTGCGCTACGTGCTGAAAGAAGGGTTAAAATGGCTGCCATTGTATGGGTGTTACTTTGCTCAGCAT
GGAGGAATCTATGTAAAGCGCAGTGCCAAATTTAACGAGAAAGAGATGCGAAACAAGTTGCAGAGCTACGTGGACGCAGGAACTCCAGTG
ATGGCCATTGCCACTTTGGCTGCCTGTTATAATAACCAGCAGGTGTTCAAAGGGGCAGTGAAGATTCGGAAAGGGCAAGCAGTGACCCTG
ATGATGGATGCCACCAATATGCCAGCTGTCAAAGCCATCATATATCAGTATATGGAAGAGATTTATCATAGAATCCCCGACTCAGACCCA
TCTTCTAGCAAAACAAGGCAGATCATCTCCACCATCCGGACGCAGAATCTTCCCAACTGTCAGCTGATTTCCCGAAGCCACTACTCCCCC
ATCTACCTGTCGTTTGTCATGCTTTTGGCTGCCCTGAGCTGGCAGTACCTGACCACTCTCTCCCAGGTAACAGAAGACTATGTTCAGACT
GGAGAACACTGATCCCAAATTTGTCCATAGCTGAAGTCCACCATAAAGTGGATTTACTTTTTTTCTTTAAGGATGGATGTTGTGTTCTCT
TTATTTTTTTCCTACTACTTTAATCCCTAAAAGAACGCTGTGTGGCTGGGACCTTTAGGAAAGTGAAATGCAGGTGAGAAGAACCTAAAC
ATGAAAGGAAAGGGTGCCTCATCCCAGCAACCTGTCCTTGTGGGTGATGATCACTGTGCTGCTTGTGGCTCATGGCAGAGCATTCAGTGC
CACGGTTTAGGTGAAGTCGCTGCATATGTGACTGTCATGAGATCCTACTTAGTATGATCCTGGCTAGAATGATAATTAAAAGTATTTAAT
TTGAAGCACCATTTGAATGTTCGTAATAGTAGAAAATGATGTGAATTTTCTTTCTGTTCGGCTCCTATTTTTCTCATCATTTTGTTTTCT
TTAATTGGGTTGAATGGAGTAGATAGAAATATTTATGGTTTAGGTAACAGTTAGATGTTTCCTAAGAATGCAAACTGCCTTTTCCACACA
AAGGCTGGGAATAAAATTCTGGGTATTCTCGTATTCTCATTTAAAGGAGTTTAGCTTTCAGAGAGAAACAGCAGGATTGCTTTTGACCTT

>2963_2963_1_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000220584_length(amino acids)=316AA_BP=192
MAACWPRLRPGRRAGSAGGARCRRAEKMLLSLVLHTYSMRYLLPSVVLLGTAPTYVLAWGVWRLLSAFLPARFYQALDDRLYCVYQSMVL
FFFENYTGVQILLYGDLPKNKENIIYLANHQSTVDWIVADILAIRQNALGHVRYVLKEGLKWLPLYGCYFAQHGGIYVKRSAKFNEKEMR
NKLQSYVDAGTPVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNL

--------------------------------------------------------------
>2963_2963_2_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000538689_length(transcript)=1540nt_BP=807nt
CGGAGCCCCCTGCCCCGGCAGGGGGATGTGGCGATGGGTGAGGGTCATGGGGTGTGAGCATCCCTGAGCCATCGATCCGGGAGGGCCGCG
GGTTCCCTTGCTTTGCCGCCGGGAGCGGCGCACGCAGCCCCGCACTCGCCTACCCGGCCCCGGGCGGCGGCGCGGCCCATGCGGCTGGGG
GCGGAGGCTGGGAGCGGGTGGCGGGCGCGGCGGCCCGGGCCCGGGCGGTGATTGGCCGCCTGCTGGCCGCGACTGAGGCCCGGGAGGCGG
GCGGGGAGCGCAGGCGGAGCTCGCTGCCGCCGAGCTGAGAAGATGCTGCTGTCCCTGGTGCTCCACACGTACTCCATGCGCTACCTGCTG
CCCAGCGTCGTGCTCCTGGGCACGGCGCCCACCTACGTGTTGGCCTGGGGGGTCTGGCGGCTGCTCTCCGCCTTCCTGCCCGCCCGCTTC
TACCAAGCGCTGGACGACCGGCTCTACTGCGTCTACCAGAGCATGGTGCTCTTCTTCTTCGAGAATTACACCGGGGTCCAGATATTGCTA
TATGGAGATTTGCCAAAAAATAAAGAAAATATAATATATTTAGCAAATCATCAAAGCACAGTTGACTGGATTGTTGCTGACATCTTGGCC
ATCAGGCAGAATGCGCTAGGACATGTGCGCTACGTGCTGAAAGAAGGGTTAAAATGGCTGCCATTGTATGGGTGTTACTTTGCTCAGCAT
GGAGGAATCTATGTAAAGCGCAGTGCCAAATTTAACGAGAAAGAGATGCGAAACAAGTTGCAGAGCTACGTGGACGCAGGAACTCCAGTG
ATGGCCATTGCCACTTTGGCTGCCTGTTATAATAACCAGCAGGTGTTCAAAGGGGCAGTGAAGATTCGGAAAGGGCAAGCAGTGACCCTG
ATGATGGATGCCACCAATATGCCAGCTGTCAAAGCCATCATATATCAGTATATGGAAGAGATTTATCATAGAATCCCCGACTCAGACCCA
TCTTCTAGCAAAACAAGGCAGATCATCTCCACCATCCGGACGCAGAATCTTCCCAACTGTCAGCTGATTTCCCGAAGCCACTACTCCCCC
ATCTACCTGTCGTTTGTCATGCTTTTGGCTGCCCTGAGCTGGCAGTACCTGACCACTCTCTCCCAGGTAACAGAAGACTATGTTCAGACT
GGAGAACACTGATCCCAAATTTGTCCATAGCTGAAGTCCACCATAAAGTGGATTTACTTTTTTTCTTTAAGGATGGATGTTGTGTTCTCT
TTATTTTTTTCCTACTACTTTAATCCCTAAAAGAACGCTGTGTGGCTGGGACCTTTAGGAAAGTGAAATGCAGGTGAGAAGAACCTAAAC
ATGAAAGGAAAGGGTGCCTCATCCCAGCAACCTGTCCTTGTGGGTGATGATCACTGTGCTGCTTGTGGCTCATGGCAGAGCATTCAGTGC
CACGGTTTAGGTGAAGTCGCTGCATATGTGACTGTCATGAGATCCTACTTAGTATGATCCTGGCTAGAATGATAATTAAAAGTATTTAAT

>2963_2963_2_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000538689_length(amino acids)=316AA_BP=192
MAACWPRLRPGRRAGSAGGARCRRAEKMLLSLVLHTYSMRYLLPSVVLLGTAPTYVLAWGVWRLLSAFLPARFYQALDDRLYCVYQSMVL
FFFENYTGVQILLYGDLPKNKENIIYLANHQSTVDWIVADILAIRQNALGHVRYVLKEGLKWLPLYGCYFAQHGGIYVKRSAKFNEKEMR
NKLQSYVDAGTPVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNL

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Fusion Gene PPI Analysis for AGPAT5-FDFT1


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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Related Drugs for AGPAT5-FDFT1


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 AGPAT5-FDFT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006868Cannabis Abuse1CTD_human
TgeneC0006870Cannabis Dependence1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0018614Hashish Abuse1CTD_human
TgeneC0024809Marijuana Abuse1CTD_human
TgeneC0031391Phencyclidine Abuse1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0037268Skin Abnormalities1GENOMICS_ENGLAND
TgeneC0234398Visual Cortex Disorder1GENOMICS_ENGLAND
TgeneC0236735Cannabis-Related Disorder1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0236742Phencyclidine-Related Disorders1CTD_human
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC3553450Profound global developmental delay1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4022810Abnormality of nervous system morphology1GENOMICS_ENGLAND
TgeneC4025871Abnormality of the face1GENOMICS_ENGLAND
TgeneC4048268Cortical visual impairment1GENOMICS_ENGLAND