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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:KCNQ1-CD81 (FusionGDB2 ID:41344)

Fusion Gene Summary for KCNQ1-CD81

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNQ1-CD81
Fusion gene ID: 41344
HgeneTgene
Gene symbol

KCNQ1

CD81

Gene ID

3784

975

Gene namepotassium voltage-gated channel subfamily Q member 1CD81 molecule
SynonymsATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRSCVID6|S5.7|TAPA1|TSPAN28
Cytomap

11p15.5-p15.4

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionpotassium voltage-gated channel subfamily KQT member 1IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1kidney and cardiac voltage dependend K+ channelpotassium channel, voltage gated KQT-like subfamily Q, member 1potassium voltagCD81 antigen26 kDa cell surface protein TAPA-1CD81 antigen (target of antiproliferative antibody 1)tetraspanin-28tspan-28
Modification date2020031320200327
UniProtAcc

P51787

P60033

Ensembl transtripts involved in fusion geneENST00000155840, ENST00000335475, 
ENST00000526095, 		ENST00000263645, 
ENST00000492627, ENST00000381036, 
ENST00000526072, ENST00000524805, 
ENST00000481687, 
Fusion gene scores* DoF score19 X 12 X 11=25085 X 6 X 2=60
# samples 236
** MAII scorelog2(23/2508*10)=-3.44683158185766
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: KCNQ1 [Title/Abstract] AND CD81 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD81(2398845)-KCNQ1(2683191), # samples:2
KCNQ1(2466714)-CD81(2411641), # samples:1
KCNQ1(2466714)-CD81(2411642), # samples:1
Anticipated loss of major functional domain due to fusion event.CD81-KCNQ1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CD81-KCNQ1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KCNQ1-CD81 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KCNQ1-CD81 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneKCNQ1

GO:0035690

cellular response to drug

9108097

HgeneKCNQ1

GO:0060306

regulation of membrane repolarization

11299204

HgeneKCNQ1

GO:0071320

cellular response to cAMP

11299204|16002409

HgeneKCNQ1

GO:0071805

potassium ion transmembrane transport

9354802|11299204|16002409

HgeneKCNQ1

GO:0086011

membrane repolarization during action potential

8900283|11299204|19646991

HgeneKCNQ1

GO:0097623

potassium ion export across plasma membrane

8900283|10400998|17289006

HgeneKCNQ1

GO:1901381

positive regulation of potassium ion transmembrane transport

8900283

TgeneCD81

GO:0000187

activation of MAPK activity

14676841

TgeneCD81

GO:0008104

protein localization

14676841

TgeneCD81

GO:0008284

positive regulation of cell proliferation

14676841

TgeneCD81

GO:0030890

positive regulation of B cell proliferation

10400713

TgeneCD81

GO:0034238

macrophage fusion

12796480

TgeneCD81

GO:0035783

CD4-positive, alpha-beta T cell costimulation

22307619

TgeneCD81

GO:0043128

positive regulation of 1-phosphatidylinositol 4-kinase activity

14676841

TgeneCD81

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

14676841

TgeneCD81

GO:0072659

protein localization to plasma membrane

27881302

TgeneCD81

GO:1903911

positive regulation of receptor clustering

23858057

TgeneCD81

GO:2000553

positive regulation of T-helper 2 cell cytokine production

8766544

TgeneCD81

GO:2000563

positive regulation of CD4-positive, alpha-beta T cell proliferation

22307619

TgeneCD81

GO:2001190

positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell

8766544


check buttonFusion gene breakpoints across KCNQ1 (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 CD81 (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
ChimerDB4STADTCGA-D7-6822KCNQ1chr11

2466714

+CD81chr11

2411641

+
ChimerDB4STADTCGA-D7-6822-01AKCNQ1chr11

2466714

+CD81chr11

2411642

+


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Fusion Gene ORF analysis for KCNQ1-CD81

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
Frame-shiftENST00000155840ENST00000263645KCNQ1chr11

2466714

+CD81chr11

2411641

+
5CDS-5UTRENST00000155840ENST00000492627KCNQ1chr11

2466714

+CD81chr11

2411641

+
5CDS-5UTRENST00000155840ENST00000381036KCNQ1chr11

2466714

+CD81chr11

2411641

+
5CDS-5UTRENST00000155840ENST00000526072KCNQ1chr11

2466714

+CD81chr11

2411641

+
5CDS-3UTRENST00000155840ENST00000524805KCNQ1chr11

2466714

+CD81chr11

2411641

+
5CDS-intronENST00000155840ENST00000481687KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-3CDSENST00000335475ENST00000263645KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-5UTRENST00000335475ENST00000492627KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-5UTRENST00000335475ENST00000381036KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-5UTRENST00000335475ENST00000526072KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-3UTRENST00000335475ENST00000524805KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-intronENST00000335475ENST00000481687KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-3CDSENST00000526095ENST00000263645KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-5UTRENST00000526095ENST00000492627KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-5UTRENST00000526095ENST00000381036KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-5UTRENST00000526095ENST00000526072KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-3UTRENST00000526095ENST00000524805KCNQ1chr11

2466714

+CD81chr11

2411641

+
intron-intronENST00000526095ENST00000481687KCNQ1chr11

2466714

+CD81chr11

2411641

+
Frame-shiftENST00000155840ENST00000263645KCNQ1chr11

2466714

+CD81chr11

2411642

+
5CDS-5UTRENST00000155840ENST00000492627KCNQ1chr11

2466714

+CD81chr11

2411642

+
5CDS-5UTRENST00000155840ENST00000381036KCNQ1chr11

2466714

+CD81chr11

2411642

+
5CDS-5UTRENST00000155840ENST00000526072KCNQ1chr11

2466714

+CD81chr11

2411642

+
5CDS-3UTRENST00000155840ENST00000524805KCNQ1chr11

2466714

+CD81chr11

2411642

+
5CDS-intronENST00000155840ENST00000481687KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-3CDSENST00000335475ENST00000263645KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-5UTRENST00000335475ENST00000492627KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-5UTRENST00000335475ENST00000381036KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-5UTRENST00000335475ENST00000526072KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-3UTRENST00000335475ENST00000524805KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-intronENST00000335475ENST00000481687KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-3CDSENST00000526095ENST00000263645KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-5UTRENST00000526095ENST00000492627KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-5UTRENST00000526095ENST00000381036KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-5UTRENST00000526095ENST00000526072KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-3UTRENST00000526095ENST00000524805KCNQ1chr11

2466714

+CD81chr11

2411642

+
intron-intronENST00000526095ENST00000481687KCNQ1chr11

2466714

+CD81chr11

2411642

+

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 KCNQ1-CD81


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)
KCNQ1chr112466714+CD81chr112411641+6.20E-060.9999938
KCNQ1chr112466714+CD81chr112411641+6.20E-060.9999938
KCNQ1chr112466714+CD81chr112411641+6.20E-060.9999938
KCNQ1chr112466714+CD81chr112411641+6.20E-060.9999938

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 KCNQ1-CD81


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
KCNQ1

P51787

CD81

P60033

FUNCTION: Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (PubMed:10646604, PubMed:25441029). Associates with KCNE beta subunits that modulates current kinetics (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:25441029). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568). {ECO:0000250|UniProtKB:P97414, ECO:0000250|UniProtKB:Q9Z0N7, ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:10713961, ECO:0000269|PubMed:11101505, ECO:0000269|PubMed:12324418, ECO:0000269|PubMed:19687231, ECO:0000269|PubMed:24855057, ECO:0000269|PubMed:25037568, ECO:0000269|PubMed:8900283, ECO:0000269|PubMed:9108097, ECO:0000269|PubMed:9312006}.; FUNCTION: [Isoform 2]: Non-functional alone but modulatory when coexpressed with the full-length isoform 1. {ECO:0000269|PubMed:9305853}.FUNCTION: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells (PubMed:20237408, PubMed:27881302, PubMed:16449649). Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production (PubMed:15161911, PubMed:20237408). In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype (PubMed:22307619, PubMed:23858057, PubMed:8766544). Present in MHC class II compartments, may also play a role in antigen presentation (PubMed:8409388, PubMed:8766544). Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction (By similarity). In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels (PubMed:28871089). Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung (By similarity). {ECO:0000250|UniProtKB:P35762, ECO:0000269|PubMed:12796480, ECO:0000269|PubMed:15161911, ECO:0000269|PubMed:16449649, ECO:0000269|PubMed:20237408, ECO:0000269|PubMed:22307619, ECO:0000269|PubMed:23858057, ECO:0000269|PubMed:27881302, ECO:0000269|PubMed:28871089, ECO:0000269|PubMed:8409388, ECO:0000269|PubMed:8766544}.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Association with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell. {ECO:0000269|PubMed:20375010, ECO:0000269|PubMed:21516087, ECO:0000269|PubMed:26116703}.; FUNCTION: (Microbial infection) Involved in SAMHD1-dependent restriction of HIV-1 replication. May support early replication of both R5- and X4-tropic HIV-1 viruses in T cells, likely via proteasome-dependent degradation of SAMHD1. {ECO:0000269|PubMed:28871089}.; FUNCTION: (Microbial infection) Specifically required for Plasmodium falciparum infectivity of hepatocytes, controlling sporozoite entry into hepatocytes via the parasitophorous vacuole and subsequent parasite differentiation to exoerythrocytic forms. {ECO:0000269|PubMed:12483205}.

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

download page


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

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


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Fusion Gene Sequence for KCNQ1-CD81


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 KCNQ1-CD81


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 KCNQ1-CD81


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNQ1P51787DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneKCNQ1P51787DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneKCNQ1P51787DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneKCNQ1P51787DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneKCNQ1P51787DB11633IsavuconazoleInhibitorSmall moleculeApproved|Investigational
HgeneKCNQ1P51787DB11633IsavuconazoleInhibitorSmall moleculeApproved|Investigational
HgeneKCNQ1P51787DB11633IsavuconazoleInhibitorSmall moleculeApproved|Investigational
HgeneKCNQ1P51787DB11633IsavuconazoleInhibitorSmall moleculeApproved|Investigational
HgeneKCNQ1P51787DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn
HgeneKCNQ1P51787DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn
HgeneKCNQ1P51787DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn
HgeneKCNQ1P51787DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for KCNQ1-CD81


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNQ1C4551647Long QT Syndrome 144CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKCNQ1C0022387Jervell-Lange Nielsen Syndrome10CLINGEN;CTD_human;ORPHANET
HgeneKCNQ1C4551509Jervell And Lange-Nielsen Syndrome 19CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKCNQ1C0023976Long QT Syndrome7CTD_human;GENOMICS_ENGLAND
HgeneKCNQ1C0011860Diabetes Mellitus, Non-Insulin-Dependent3CTD_human
HgeneKCNQ1C1837014Atrial Fibrillation, Familial, 33CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKCNQ1C1865019SHORT QT SYNDROME 2 (disorder)3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKCNQ1C1843687ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)2ORPHANET
HgeneKCNQ1C1865020Short QT Syndrome 12ORPHANET
HgeneKCNQ1C0001418Adenocarcinoma1CTD_human
HgeneKCNQ1C0007194Hypertrophic Cardiomyopathy1CLINGEN;GENOMICS_ENGLAND
HgeneKCNQ1C0018781Noise-induced hearing loss1CTD_human
HgeneKCNQ1C0021841Intestinal Neoplasms1CTD_human
HgeneKCNQ1C0035828Romano-Ward Syndrome1ORPHANET
HgeneKCNQ1C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneKCNQ1C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneKCNQ1C0205643Carcinoma, Cribriform1CTD_human
HgeneKCNQ1C0205644Carcinoma, Granular Cell1CTD_human
HgeneKCNQ1C0205645Adenocarcinoma, Tubular1CTD_human
HgeneKCNQ1C0340493Paroxysmal familial ventricular fibrillation1GENOMICS_ENGLAND
HgeneKCNQ1C0346627Intestinal Cancer1CTD_human
HgeneKCNQ1C0857439Pituitary hormone deficiency1GENOMICS_ENGLAND
TgeneCD81C0009447Common Variable Immunodeficiency1CTD_human;ORPHANET
TgeneCD81C0019196Hepatitis C1CTD_human
TgeneCD81C0086438Hypogammaglobulinemia1GENOMICS_ENGLAND
TgeneCD81C3150741IMMUNODEFICIENCY, COMMON VARIABLE, 61GENOMICS_ENGLAND