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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MAMDC4

check button Gene summary
Gene informationGene symbol

MAMDC4

Gene ID

158056

Gene nameMAM domain containing 4
SynonymsAEGP
Cytomap

9q34.3

Type of geneprotein-coding
Descriptionapical endosomal glycoproteinMAM domain-containing protein 4apical early endosomal glycoproteinendotubin
Modification date20180329
UniProtAcc

Q6UXC1

ContextPubMed: MAMDC4 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for MAMDC4 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for MAMDC4

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for MAMDC4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5015039139746830:139746914:139747553:139747661:139747736:139747910139747553:139747661ENSG00000177943.9ENST00000317446.2,ENST00000445819.1
exon_skip_5015059139746830:139746914:139747593:139747661:139747736:139747910139747593:139747661ENSG00000177943.9ENST00000485732.1
exon_skip_5015079139748228:139748359:139748443:139748528:139748662:139748788139748443:139748528ENSG00000177943.9ENST00000317446.2,ENST00000485732.1,ENST00000445819.1
exon_skip_5015089139748990:139749128:139749213:139749302:139749388:139749562139749213:139749302ENSG00000177943.9ENST00000317446.2,ENST00000445819.1
exon_skip_5015109139749388:139749562:139749705:139749790:139749882:139750071139749705:139749790ENSG00000177943.9ENST00000317446.2,ENST00000485732.1,ENST00000445819.1
exon_skip_5015129139750469:139750601:139750708:139750833:139750915:139751027139750708:139750833ENSG00000177943.9ENST00000445819.1
exon_skip_5015179139750708:139750833:139750915:139751027:139751161:139751278139750915:139751027ENSG00000177943.9ENST00000445819.1
exon_skip_5015209139751456:139751493:139751616:139751750:139751818:139752038139751616:139751750ENSG00000177943.9ENST00000479475.1,ENST00000317446.2,ENST00000485732.1,ENST00000445819.1
exon_skip_5015219139752430:139752549:139752637:139752728:139752851:139752998139752637:139752728ENSG00000177943.9ENST00000317446.2,ENST00000445819.1
exon_skip_5015269139752851:139752998:139753170:139753305:139753456:139753584139753170:139753305ENSG00000177943.9ENST00000317446.2,ENST00000485732.1,ENST00000445819.1
exon_skip_5015309139752851:139752998:139753170:139753584:139753660:139753769139753170:139753584ENSG00000177943.9ENST00000479475.1
exon_skip_5015379139753170:139753305:139753456:139753584:139753660:139753769139753456:139753584ENSG00000177943.9ENST00000317446.2,ENST00000485732.1,ENST00000445819.1
exon_skip_5015419139753456:139753584:139753660:139753769:139754337:139754516139753660:139753769ENSG00000177943.9ENST00000317446.2,ENST00000485732.1,ENST00000445819.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for MAMDC4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5015039139746830:139746914:139747553:139747661:139747736:139747910139747553:139747661ENSG00000177943.9ENST00000317446.2,ENST00000445819.1
exon_skip_5015059139746830:139746914:139747593:139747661:139747736:139747910139747593:139747661ENSG00000177943.9ENST00000485732.1
exon_skip_5015079139748228:139748359:139748443:139748528:139748662:139748788139748443:139748528ENSG00000177943.9ENST00000485732.1,ENST00000317446.2,ENST00000445819.1
exon_skip_5015089139748990:139749128:139749213:139749302:139749388:139749562139749213:139749302ENSG00000177943.9ENST00000317446.2,ENST00000445819.1
exon_skip_5015109139749388:139749562:139749705:139749790:139749882:139750071139749705:139749790ENSG00000177943.9ENST00000485732.1,ENST00000317446.2,ENST00000445819.1
exon_skip_5015129139750469:139750601:139750708:139750833:139750915:139751027139750708:139750833ENSG00000177943.9ENST00000445819.1
exon_skip_5015179139750708:139750833:139750915:139751027:139751161:139751278139750915:139751027ENSG00000177943.9ENST00000445819.1
exon_skip_5015209139751456:139751493:139751616:139751750:139751818:139752038139751616:139751750ENSG00000177943.9ENST00000485732.1,ENST00000317446.2,ENST00000445819.1,ENST00000479475.1
exon_skip_5015219139752430:139752549:139752637:139752728:139752851:139752998139752637:139752728ENSG00000177943.9ENST00000317446.2,ENST00000445819.1
exon_skip_5015269139752851:139752998:139753170:139753305:139753456:139753584139753170:139753305ENSG00000177943.9ENST00000485732.1,ENST00000317446.2,ENST00000445819.1
exon_skip_5015309139752851:139752998:139753170:139753584:139753660:139753769139753170:139753584ENSG00000177943.9ENST00000479475.1
exon_skip_5015379139753170:139753305:139753456:139753584:139753660:139753769139753456:139753584ENSG00000177943.9ENST00000485732.1,ENST00000317446.2,ENST00000445819.1
exon_skip_5015419139753456:139753584:139753660:139753769:139754337:139754516139753660:139753769ENSG00000177943.9ENST00000485732.1,ENST00000317446.2,ENST00000445819.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for MAMDC4

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000445819139748443139748528Frame-shift
ENST00000445819139749213139749302Frame-shift
ENST00000445819139749705139749790Frame-shift
ENST00000445819139750708139750833Frame-shift
ENST00000445819139750915139751027Frame-shift
ENST00000445819139751616139751750Frame-shift
ENST00000445819139752637139752728Frame-shift
ENST00000445819139753456139753584Frame-shift
ENST00000445819139753660139753769Frame-shift
ENST00000445819139747553139747661In-frame
ENST00000445819139753170139753305In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000445819139748443139748528Frame-shift
ENST00000445819139749213139749302Frame-shift
ENST00000445819139749705139749790Frame-shift
ENST00000445819139750708139750833Frame-shift
ENST00000445819139750915139751027Frame-shift
ENST00000445819139751616139751750Frame-shift
ENST00000445819139752637139752728Frame-shift
ENST00000445819139753456139753584Frame-shift
ENST00000445819139753660139753769Frame-shift
ENST00000445819139747553139747661In-frame
ENST00000445819139753170139753305In-frame

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Infer the effects of exon skipping event on protein functional features for MAMDC4

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000044581939121216139747553139747661972041551
ENST00000445819391212161397531701397533053109324310191064

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000044581939121216139747553139747661972041551
ENST00000445819391212161397531701397533053109324310191064

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q6UXC11551231216ChainID=PRO_0000286578;Note=Apical endosomal glycoprotein
Q6UXC115512653DomainNote=LDL-receptor class A 1%3B truncated;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00124
Q6UXC11551122Signal peptideOntology_term=ECO:0000255;evidence=ECO:0000255
Q6UXC11551231151Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXC1101910649611216Alternative sequenceID=VSP_026432;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6UXC110191064231216ChainID=PRO_0000286578;Note=Apical endosomal glycoprotein
Q6UXC1101910649711138DomainNote=MAM 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128
Q6UXC110191064231151Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q6UXC11551231216ChainID=PRO_0000286578;Note=Apical endosomal glycoprotein
Q6UXC115512653DomainNote=LDL-receptor class A 1%3B truncated;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00124
Q6UXC11551122Signal peptideOntology_term=ECO:0000255;evidence=ECO:0000255
Q6UXC11551231151Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXC1101910649611216Alternative sequenceID=VSP_026432;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6UXC110191064231216ChainID=PRO_0000286578;Note=Apical endosomal glycoprotein
Q6UXC1101910649711138DomainNote=MAM 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128
Q6UXC110191064231151Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for MAMDC4

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_501508
139749214139749302139749266139749266Frame_Shift_DelC-p.S329fs
LIHCTCGA-DD-A39Y-01exon_skip_501510
139749706139749790139749732139749732Frame_Shift_DelG-p.P408fs
LIHCTCGA-DD-A3A0-01exon_skip_501510
139749706139749790139749732139749732Frame_Shift_DelG-p.P408fs
LIHCTCGA-DD-A39Y-01exon_skip_501517
139750916139751027139750967139750967Frame_Shift_DelG-p.G633fs
LIHCTCGA-DD-A3A0-01exon_skip_501526
139753171139753305139753286139753286Frame_Shift_DelG-p.M1058fs
LIHCTCGA-DD-A3A0-01exon_skip_501526
139753171139753305139753286139753286Frame_Shift_DelG-p.M979fs
LIHCTCGA-DD-A3A0-01exon_skip_501530
139753171139753584139753286139753286Frame_Shift_DelG-p.M1058fs
LIHCTCGA-DD-A3A0-01exon_skip_501530
139753171139753584139753286139753286Frame_Shift_DelG-p.M979fs
HNSCTCGA-CR-6478-01exon_skip_501530
139753171139753584139753544139753545Frame_Shift_Ins-Gp.R1094fs
HNSCTCGA-CR-6478-01exon_skip_501537
139753457139753584139753544139753545Frame_Shift_Ins-Gp.R1094fs
LUSCTCGA-21-1081-01exon_skip_501530
139753171139753584139753544139753545Frame_Shift_Ins-Gp.L1015fs
LUSCTCGA-21-1081-01exon_skip_501537
139753457139753584139753544139753545Frame_Shift_Ins-Gp.L1015fs
COADTCGA-D5-5537-01exon_skip_501505
exon_skip_501503
139747554139747661139747570139747570Nonsense_MutationGAp.W21X
HNSCTCGA-CN-5356-01exon_skip_501507
139748444139748528139748462139748462Nonsense_MutationCTp.R202*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
OC316_OVARY139750916139751027139751024139751025Frame_Shift_DelAG-p.R652fs
OC314_OVARY139750916139751027139751024139751025Frame_Shift_DelAG-p.R652fs
HSC39_STOMACH139752638139752728139752643139752644Frame_Shift_Ins-TTp.F864fs
KINGS1_CENTRAL_NERVOUS_SYSTEM139752638139752728139752643139752644Frame_Shift_Ins-TTp.F864fs
SBC3_LUNG139752638139752728139752643139752644Frame_Shift_Ins-TTp.F864fs
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139750916139751027139750974139750976In_Frame_DelACA-p.N636del
RT4_URINARY_TRACT139748444139748528139748481139748481Missense_MutationGAp.G208D
ECC10_STOMACH139749214139749302139749232139749232Missense_MutationTCp.V318A
201T_LUNG139749706139749790139749753139749753Missense_MutationCAp.D415E
KNS42_CENTRAL_NERVOUS_SYSTEM139749706139749790139749754139749754Missense_MutationGTp.D416Y
HCC38_BREAST139750709139750833139750765139750765Missense_MutationCGp.L593V
HT1376_URINARY_TRACT139750916139751027139750925139750925Missense_MutationGTp.V619F
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139750916139751027139750958139750958Missense_MutationCAp.Q630K
LIM1215_LARGE_INTESTINE139750916139751027139750977139750977Missense_MutationAGp.N636S
SKMEL2_SKIN139752638139752728139752657139752657Missense_MutationCTp.A868V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139752638139752728139752713139752714Missense_MutationCCTTp.P887F
SNU175_LARGE_INTESTINE139753171139753584139753231139753231Missense_MutationGAp.R961H
SNU175_LARGE_INTESTINE139753171139753305139753231139753231Missense_MutationGAp.R961H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139753171139753584139753231139753231Missense_MutationGAp.R961H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139753171139753305139753231139753231Missense_MutationGAp.R961H
SNU407_LARGE_INTESTINE139753457139753584139753550139753550Missense_MutationCTp.A1017V
SNU407_LARGE_INTESTINE139753171139753584139753550139753550Missense_MutationCTp.A1017V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139753457139753584139753552139753552Missense_MutationCGp.Q1018E
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE139753171139753584139753552139753552Missense_MutationCGp.Q1018E
201T_LUNG139753457139753584139753556139753556Missense_MutationTGp.V1019G
201T_LUNG139753171139753584139753556139753556Missense_MutationTGp.V1019G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAMDC4

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAMDC4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAMDC4


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RelatedDrugs for MAMDC4

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAMDC4

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource