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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:AGMO-WNK2 (FusionGDB2 ID:HG392636TG65268)

Fusion Gene Summary for AGMO-WNK2

check button Fusion gene summary
Fusion gene informationFusion gene name: AGMO-WNK2
Fusion gene ID: hg392636tg65268
HgeneTgene
Gene symbol

AGMO

WNK2

Gene ID

392636

65268

Gene namealkylglycerol monooxygenaseWNK lysine deficient protein kinase 2
SynonymsTMEM195NY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43
Cytomap('AGMO')('WNK2')

7p21.2

9q22.31

Type of geneprotein-codingprotein-coding
Descriptionalkylglycerol monooxygenaseglyceryl-ether monooxygenasetransmembrane protein 195serine/threonine-protein kinase WNK2antigen NY-CO-43mitogen-activated protein kinase kinase kinaseprotein kinase lysine-deficient 2protein kinase with no lysine 2serologically defined colon cancer antigen 43
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342526, ENST00000498264, 
Fusion gene scores* DoF score5 X 6 X 5=15010 X 9 X 7=630
# samples 612
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/630*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGMO [Title/Abstract] AND WNK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGMO(15405139)-WNK2(96079802), # samples:1
Anticipated loss of major functional domain due to fusion event.AGMO-WNK2 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.
AGMO-WNK2 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.
AGMO-WNK2 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.
AGMO-WNK2 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
HgeneAGMO

GO:0006643

membrane lipid metabolic process

20643956

HgeneAGMO

GO:0046485

ether lipid metabolic process

20643956

TgeneWNK2

GO:0006468

protein phosphorylation

21733846

TgeneWNK2

GO:0046777

protein autophosphorylation

17667937


check buttonFusion gene breakpoints across AGMO (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 WNK2 (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-CD-8534-01AAGMOchr7

15405139

-WNK2chr9

96079802

+


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Fusion Gene ORF analysis for AGMO-WNK2

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-3UTRENST00000342526ENST00000349097AGMOchr7

15405139

-WNK2chr9

96079802

+
5CDS-3UTRENST00000342526ENST00000356055AGMOchr7

15405139

-WNK2chr9

96079802

+
5CDS-3UTRENST00000342526ENST00000395475AGMOchr7

15405139

-WNK2chr9

96079802

+
5CDS-3UTRENST00000342526ENST00000395477AGMOchr7

15405139

-WNK2chr9

96079802

+
5CDS-3UTRENST00000342526ENST00000471076AGMOchr7

15405139

-WNK2chr9

96079802

+
In-frameENST00000342526ENST00000297954AGMOchr7

15405139

-WNK2chr9

96079802

+
In-frameENST00000342526ENST00000427277AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3CDSENST00000498264ENST00000297954AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3CDSENST00000498264ENST00000427277AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3UTRENST00000498264ENST00000349097AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3UTRENST00000498264ENST00000356055AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3UTRENST00000498264ENST00000395475AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3UTRENST00000498264ENST00000395477AGMOchr7

15405139

-WNK2chr9

96079802

+
intron-3UTRENST00000498264ENST00000471076AGMOchr7

15405139

-WNK2chr9

96079802

+

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)
ENST00000342526AGMOchr715405139-ENST00000427277WNK2chr996079802+15921433831591503
ENST00000342526AGMOchr715405139-ENST00000297954WNK2chr996079802+19441433831699538

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
ENST00000342526ENST00000427277AGMOchr715405139-WNK2chr996079802+0.008397550.9916025
ENST00000342526ENST00000297954AGMOchr715405139-WNK2chr996079802+0.0081426190.99185735

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Fusion Genomic Features for AGMO-WNK2


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)
AGMOchr715405138-WNK2chr996079801+0.124961950.875038
AGMOchr715405138-WNK2chr996079801+0.124961950.875038

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 AGMO-WNK2


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/chr7:15405139/chr9:96079802)
- 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
..
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: 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}.

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
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213120_249421446.0DomainFatty acid hydroxylase
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213132_136421446.0MotifNote=Histidine box-1
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213145_149421446.0MotifNote=Histidine box-2
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213221_225421446.0MotifNote=Histidine box-3
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213111_131421446.0TransmembraneHelical
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213334_354421446.0TransmembraneHelical
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213363_383421446.0TransmembraneHelical
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-121343_63421446.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGMOchr7:15405139chr9:96079802ENST00000342526-1213413_433421446.0TransmembraneHelical
TgeneWNK2chr7:15405139chr9:96079802ENST000002979542730195_45322092298.0DomainProtein kinase
TgeneWNK2chr7:15405139chr9:96079802ENST000002979542730275_27822092298.0Nucleotide bindingATP


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Fusion Gene Sequence for AGMO-WNK2


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.
>2896_2896_1_AGMO-WNK2_AGMO_chr7_15405139_ENST00000342526_WNK2_chr9_96079802_ENST00000297954_length(transcript)=1944nt_BP=1433nt
CTCTCTACACAGAATCGGCTGTTGAGTGTGCTCTCAGTGGAGCTTTGGTTTTAGCTGTTCTCTGACAAAGAGCTTGTTCTGAGCTGCACA
TCTCGTCCTCTTTGTTCAGCCTCAGGCTTCAAGCATTGAATCCTAAATATTCTCCAGCTGGGAATCAGACAAGGGCAGAAATGAAGAACC
CAGAAGCCCAGCAGGATGTTTCAGTTTCCCAGGGATTTCGCATGTTGTTTTACACGATGAAACCCAGTGAAACTTCATTCCAAACATTAG
AAGAGGTGCCTGATTATGTAAAAAAGGCAACTCCATTTTTCATTTCTTTGATGCTGCTTGAACTTGTTGTCAGCTGGATTCTCAAAGGAA
AGCCACCAGGTCGCCTGGATGATGCTTTAACGTCAATCTCAGCTGGTGTTCTGTCTCGACTTCCAAGTCTATTTTTCAGGAGCATTGAAC
TGACCAGTTATATTTATATCTGGGAGAACTACAGGCTGTTCAATTTGCCTTGGGATTCTCCATGGACTTGGTATTCAGCCTTCTTAGGAG
TTGACTTTGGCTACTACTGGTTCCATCGTATGGCTCATGAAGTTAATATTATGTGGGCCGGACACCAAACACATCATAGTTCTGAAGACT
ATAACTTATCCACAGCACTGAGACAGTCTGTCCTCCAGATATATACTTCCTGGATTTTCTACTCTCCCCTGGCCCTCTTCATACCCCCTT
CAGTATATGCTGTTCATCTTCAATTCAATCTTCTTTACCAATTTTGGATCCATACAGAGGTCATCAATAACCTTGGTCCTTTGGAACTGA
TTCTTAATACTCCTAGCCATCATAGGGTTCATCATGGCAGAAATCGTTATTGCATAGACAAAAATTATGCTGGTGTTCTTATTATTTGGG
ATAAAATTTTTGGGACATTTGAAGCAGAAAATGAAAAAGTTGTATATGGCTTAACACATCCCATTAATACATTTGAACCAATCAAAGTGC
AGTTCCATCACTTATTTTCCATATGGACTACATTCTGGGCCACACCTGGATTCTTCAATAAGTTTTCTGTCATATTTAAGGGACCGGGAT
GGGGTCCAGGTAAACCAAGACTTGGTCTCAGTGAAGAAATTCCAGAGGTCACCGGCAAAGAAGTTCCCTTCTCATCATCTTCATCTCAGC
TATTAAAGATATATACAGTTGTACAGTTTGCTCTGATGTTGGCATTTTATGAAGAGACCTTTGCAGATACAGCTGCACTGTCGCAAGTTA
CTCTCCTTCTGAGGGTTTGCTTCATTATCCTGACCTTGACTTCCATTGGATTTCTTCTGGATCAAAGACCCAAGGCAGCTATTATGGAAA
CTCTCCGTTGCTTGATGTTCTTAATGCTGTACCGATTTGGTCACCTGAAGCCTCTTGTCCCTTCATTGTCATCTGCTTTTGAGATGACCG
CACCTCGAGCAGGAGTGGGGATGCCACGTCTGCCCCCAGCGCCCGGCCCTCTGTCCACCACGGTCATTCCCGGAGCCGCCCCGACCCTGT
CCGTGCCCACACCAGATGGCGCCCTCGGAACCGCCCGGAGAAACCAGGTGTGGTTTGGCCTCCGAGTCCCCCCCACCGCCTGCTGTGGGC
ACAGCACTCAGCCGCGAGGGGGACAGCGGGTGGGCAGCAAGACTGCTTCCTTTGCGGCTTCAGACCCTGTTCGCTCCTAGGTTCCTGTGG
TCCACGCGCCGTCTCCACACCCACTTCCTATACTTGAGTTGATGGTTAGAACCTTGTCGTCACCCTGCAGAAGTACAGTGCCTTGAATGC
CAGCTTTTCCGTTCCCTGATGAAAAGATATGTTAAAAAAAATTATCGGAAAAGGTTTCATTTGCAATTGGCTTGTGCATTGATAATCTTT

>2896_2896_1_AGMO-WNK2_AGMO_chr7_15405139_ENST00000342526_WNK2_chr9_96079802_ENST00000297954_length(amino acids)=538AA_BP=450
MHISSSLFSLRLQALNPKYSPAGNQTRAEMKNPEAQQDVSVSQGFRMLFYTMKPSETSFQTLEEVPDYVKKATPFFISLMLLELVVSWIL
KGKPPGRLDDALTSISAGVLSRLPSLFFRSIELTSYIYIWENYRLFNLPWDSPWTWYSAFLGVDFGYYWFHRMAHEVNIMWAGHQTHHSS
EDYNLSTALRQSVLQIYTSWIFYSPLALFIPPSVYAVHLQFNLLYQFWIHTEVINNLGPLELILNTPSHHRVHHGRNRYCIDKNYAGVLI
IWDKIFGTFEAENEKVVYGLTHPINTFEPIKVQFHHLFSIWTTFWATPGFFNKFSVIFKGPGWGPGKPRLGLSEEIPEVTGKEVPFSSSS
SQLLKIYTVVQFALMLAFYEETFADTAALSQVTLLLRVCFIILTLTSIGFLLDQRPKAAIMETLRCLMFLMLYRFGHLKPLVPSLSSAFE

--------------------------------------------------------------
>2896_2896_2_AGMO-WNK2_AGMO_chr7_15405139_ENST00000342526_WNK2_chr9_96079802_ENST00000427277_length(transcript)=1592nt_BP=1433nt
CTCTCTACACAGAATCGGCTGTTGAGTGTGCTCTCAGTGGAGCTTTGGTTTTAGCTGTTCTCTGACAAAGAGCTTGTTCTGAGCTGCACA
TCTCGTCCTCTTTGTTCAGCCTCAGGCTTCAAGCATTGAATCCTAAATATTCTCCAGCTGGGAATCAGACAAGGGCAGAAATGAAGAACC
CAGAAGCCCAGCAGGATGTTTCAGTTTCCCAGGGATTTCGCATGTTGTTTTACACGATGAAACCCAGTGAAACTTCATTCCAAACATTAG
AAGAGGTGCCTGATTATGTAAAAAAGGCAACTCCATTTTTCATTTCTTTGATGCTGCTTGAACTTGTTGTCAGCTGGATTCTCAAAGGAA
AGCCACCAGGTCGCCTGGATGATGCTTTAACGTCAATCTCAGCTGGTGTTCTGTCTCGACTTCCAAGTCTATTTTTCAGGAGCATTGAAC
TGACCAGTTATATTTATATCTGGGAGAACTACAGGCTGTTCAATTTGCCTTGGGATTCTCCATGGACTTGGTATTCAGCCTTCTTAGGAG
TTGACTTTGGCTACTACTGGTTCCATCGTATGGCTCATGAAGTTAATATTATGTGGGCCGGACACCAAACACATCATAGTTCTGAAGACT
ATAACTTATCCACAGCACTGAGACAGTCTGTCCTCCAGATATATACTTCCTGGATTTTCTACTCTCCCCTGGCCCTCTTCATACCCCCTT
CAGTATATGCTGTTCATCTTCAATTCAATCTTCTTTACCAATTTTGGATCCATACAGAGGTCATCAATAACCTTGGTCCTTTGGAACTGA
TTCTTAATACTCCTAGCCATCATAGGGTTCATCATGGCAGAAATCGTTATTGCATAGACAAAAATTATGCTGGTGTTCTTATTATTTGGG
ATAAAATTTTTGGGACATTTGAAGCAGAAAATGAAAAAGTTGTATATGGCTTAACACATCCCATTAATACATTTGAACCAATCAAAGTGC
AGTTCCATCACTTATTTTCCATATGGACTACATTCTGGGCCACACCTGGATTCTTCAATAAGTTTTCTGTCATATTTAAGGGACCGGGAT
GGGGTCCAGGTAAACCAAGACTTGGTCTCAGTGAAGAAATTCCAGAGGTCACCGGCAAAGAAGTTCCCTTCTCATCATCTTCATCTCAGC
TATTAAAGATATATACAGTTGTACAGTTTGCTCTGATGTTGGCATTTTATGAAGAGACCTTTGCAGATACAGCTGCACTGTCGCAAGTTA
CTCTCCTTCTGAGGGTTTGCTTCATTATCCTGACCTTGACTTCCATTGGATTTCTTCTGGATCAAAGACCCAAGGCAGCTATTATGGAAA
CTCTCCGTTGCTTGATGTTCTTAATGCTGTACCGATTTGGTCACCTGAAGCCTCTTGTCCCTTCATTGTCATCTGCTTTTGAGATGACCG
CACCTCGAGCAGGAGTGGGGATGCCACGTCTGCCCCCAGCGCCCGGCCCTCTGTCCACCACGGTCATTCCCGGAGCCGCCCCGACCCTGT

>2896_2896_2_AGMO-WNK2_AGMO_chr7_15405139_ENST00000342526_WNK2_chr9_96079802_ENST00000427277_length(amino acids)=503AA_BP=450
MHISSSLFSLRLQALNPKYSPAGNQTRAEMKNPEAQQDVSVSQGFRMLFYTMKPSETSFQTLEEVPDYVKKATPFFISLMLLELVVSWIL
KGKPPGRLDDALTSISAGVLSRLPSLFFRSIELTSYIYIWENYRLFNLPWDSPWTWYSAFLGVDFGYYWFHRMAHEVNIMWAGHQTHHSS
EDYNLSTALRQSVLQIYTSWIFYSPLALFIPPSVYAVHLQFNLLYQFWIHTEVINNLGPLELILNTPSHHRVHHGRNRYCIDKNYAGVLI
IWDKIFGTFEAENEKVVYGLTHPINTFEPIKVQFHHLFSIWTTFWATPGFFNKFSVIFKGPGWGPGKPRLGLSEEIPEVTGKEVPFSSSS
SQLLKIYTVVQFALMLAFYEETFADTAALSQVTLLLRVCFIILTLTSIGFLLDQRPKAAIMETLRCLMFLMLYRFGHLKPLVPSLSSAFE

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Fusion Gene PPI Analysis for AGMO-WNK2


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 AGMO-WNK2


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 AGMO-WNK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGMOC0014544Epilepsy2GENOMICS_ENGLAND
HgeneAGMOC0025958Microcephaly2GENOMICS_ENGLAND
HgeneAGMOC3714756Intellectual Disability2GENOMICS_ENGLAND