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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 FAM193A

check button Gene summary
Gene informationGene symbol

FAM193A

Gene ID

8603

Gene namefamily with sequence similarity 193 member A
SynonymsC4orf8|RES4-22
Cytomap

4p16.3

Type of geneprotein-coding
Descriptionprotein FAM193A
Modification date20180519
UniProtAcc

P78312

ContextPubMed: FAM193A [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 FAM193A 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 FAM193A

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 FAM193A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42147942628136:2628304:2632661:2632896:2641461:26415862632661:2632896ENSG00000125386.10ENST00000512465.1,ENST00000382839.3,ENST00000502458.1,ENST00000505311.1,ENST00000545951.1,ENST00000513898.1,ENST00000324666.5
exon_skip_42148842648416:2648559:2656784:2656856:2659529:26596072656784:2656856ENSG00000125386.10ENST00000502458.1
exon_skip_42149542664835:2665015:2673847:2674099:2691232:26912772673847:2674099ENSG00000125386.10ENST00000513350.1,ENST00000512465.1,ENST00000382839.3,ENST00000502458.1,ENST00000505311.1,ENST00000545951.1,ENST00000513898.1,ENST00000324666.5
exon_skip_42149742673847:2674099:2691232:2691431:2692424:26926972691232:2691431ENSG00000125386.10ENST00000513350.1,ENST00000512465.1,ENST00000382839.3,ENST00000502458.1,ENST00000505311.1,ENST00000545951.1,ENST00000513898.1,ENST00000324666.5
exon_skip_42150042695312:2695601:2696672:2696856:2698089:26983202696672:2696856ENSG00000125386.10ENST00000513350.1,ENST00000382839.3,ENST00000502458.1,ENST00000505311.1,ENST00000545951.1,ENST00000324666.5
exon_skip_42150142695312:2695601:2696672:2696869:2698089:26983202696672:2696869ENSG00000125386.10ENST00000513898.1
exon_skip_42150242696672:2696856:2698089:2698320:2701406:27016652698089:2698320ENSG00000125386.10ENST00000513350.1,ENST00000382839.3,ENST00000502458.1,ENST00000505311.1,ENST00000545951.1,ENST00000324666.5
exon_skip_42150542701406:2702271:2709872:2709995:2717749:27178312709872:2709995ENSG00000125386.10ENST00000324666.5
exon_skip_42150642701406:2702271:2717048:2717220:2717749:27178312717048:2717220ENSG00000125386.10ENST00000513898.1
exon_skip_42150742701406:2702271:2717749:2717831:2733501:27336162717749:2717831ENSG00000125386.10ENST00000512465.1,ENST00000382839.3,ENST00000502458.1
exon_skip_42151142717749:2717831:2721706:2721799:2733501:27336162721706:2721799ENSG00000125386.10ENST00000505311.1

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

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Exon skipping events with PSIs in GTEx for FAM193A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42147942628136:2628304:2632661:2632896:2641461:26415862632661:2632896ENSG00000125386.10ENST00000382839.3,ENST00000512465.1,ENST00000324666.5,ENST00000545951.1,ENST00000502458.1,ENST00000513898.1,ENST00000505311.1
exon_skip_42148842648416:2648559:2656784:2656856:2659529:26596072656784:2656856ENSG00000125386.10ENST00000502458.1
exon_skip_42149542664835:2665015:2673847:2674099:2691232:26912772673847:2674099ENSG00000125386.10ENST00000382839.3,ENST00000512465.1,ENST00000324666.5,ENST00000545951.1,ENST00000502458.1,ENST00000513898.1,ENST00000505311.1,ENST00000513350.1
exon_skip_42149742673847:2674099:2691232:2691431:2692424:26926972691232:2691431ENSG00000125386.10ENST00000382839.3,ENST00000512465.1,ENST00000324666.5,ENST00000545951.1,ENST00000502458.1,ENST00000513898.1,ENST00000505311.1,ENST00000513350.1
exon_skip_42149942695312:2695601:2696672:2696809:2698089:26983202696672:2696809ENSG00000125386.10ENST00000512465.1
exon_skip_42150042695312:2695601:2696672:2696856:2698089:26983202696672:2696856ENSG00000125386.10ENST00000382839.3,ENST00000324666.5,ENST00000545951.1,ENST00000502458.1,ENST00000505311.1,ENST00000513350.1
exon_skip_42150142695312:2695601:2696672:2696869:2698089:26983202696672:2696869ENSG00000125386.10ENST00000513898.1
exon_skip_42150242696672:2696856:2698089:2698320:2701406:27016652698089:2698320ENSG00000125386.10ENST00000382839.3,ENST00000324666.5,ENST00000545951.1,ENST00000502458.1,ENST00000505311.1,ENST00000513350.1
exon_skip_42150542701406:2702271:2709872:2709995:2717749:27178312709872:2709995ENSG00000125386.10ENST00000324666.5
exon_skip_42150642701406:2702271:2717048:2717220:2717749:27178312717048:2717220ENSG00000125386.10ENST00000513898.1
exon_skip_42150742701406:2702271:2717749:2717831:2733501:27336162717749:2717831ENSG00000125386.10ENST00000382839.3,ENST00000512465.1,ENST00000502458.1
exon_skip_42151142717749:2717831:2721706:2721799:2733501:27336162721706:2721799ENSG00000125386.10ENST00000505311.1

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 FAM193A

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
ENST00000324666263266126328965CDS-5UTR
ENST0000032466626912322691431Frame-shift
ENST0000032466626966722696856Frame-shift
ENST0000032466626738472674099In-frame
ENST0000032466626980892698320In-frame
ENST0000032466627098722709995In-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
ENST00000324666263266126328965CDS-5UTR
ENST0000032466626912322691431Frame-shift
ENST0000032466626966722696856Frame-shift
ENST0000032466626738472674099In-frame
ENST0000032466626980892698320In-frame
ENST0000032466627098722709995In-frame

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Infer the effects of exon skipping event on protein functional features for FAM193A

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
ENST00000324666486312652673847267409915581809402486
ENST00000324666486312652698089269832027552985801878
ENST0000032466648631265270987227099953851397311661207

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
ENST00000324666486312652673847267409915581809402486
ENST00000324666486312652698089269832027552985801878
ENST0000032466648631265270987227099953851397311661207

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
P7831240248611265ChainID=PRO_0000089430;Note=Protein FAM193A
P783128018787931265Alternative sequenceID=VSP_014617;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9734812;Dbxref=PMID:9734812
P7831280187811265ChainID=PRO_0000089430;Note=Protein FAM193A
P78312801878873932Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P78312116612077931265Alternative sequenceID=VSP_014617;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9734812;Dbxref=PMID:9734812
P783121166120711671207Alternative sequenceID=VSP_014615;Note=In isoform 2%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9734812;Dbxref=PMID:15489334,PMID:9734812
P783121166120711265ChainID=PRO_0000089430;Note=Protein FAM193A


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
P7831240248611265ChainID=PRO_0000089430;Note=Protein FAM193A
P783128018787931265Alternative sequenceID=VSP_014617;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9734812;Dbxref=PMID:9734812
P7831280187811265ChainID=PRO_0000089430;Note=Protein FAM193A
P78312801878873932Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P78312116612077931265Alternative sequenceID=VSP_014617;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9734812;Dbxref=PMID:9734812
P783121166120711671207Alternative sequenceID=VSP_014615;Note=In isoform 2%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9734812;Dbxref=PMID:15489334,PMID:9734812
P783121166120711265ChainID=PRO_0000089430;Note=Protein FAM193A


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SNVs in the skipped exons for FAM193A

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
COADTCGA-AZ-4615-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.P830fs
LIHCTCGA-DD-A39Y-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.K832fs
PRADTCGA-J9-A52C-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.K832fs
STADTCGA-BR-4363-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.P852fs
STADTCGA-HU-8602-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.P852fs
STADTCGA-HU-A4GT-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.P852fs
UCECTCGA-AX-A06H-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.K1031fs
UCECTCGA-D1-A17D-01exon_skip_421502
2698090269832026981772698177Frame_Shift_DelA-p.K1031fs
DLBCTCGA-G8-6914-01exon_skip_421479
2632662263289626327992632800Frame_Shift_Ins-Cp.G23fs
BLCATCGA-2F-A9KP-01exon_skip_421502
2698090269832026981762698177Frame_Shift_Ins-Ap.K831fs
STADTCGA-BR-4201-01exon_skip_421495
2673848267409926738772673877Nonsense_MutationTAp.C412*
ESCATCGA-L5-A4OO-01exon_skip_421495
2673848267409926740722674072Nonsense_MutationTGp.Y477*
ESCATCGA-L5-A4OO-01exon_skip_421495
2673848267409926740722674072Nonsense_MutationTGp.Y499X
CHOLTCGA-3X-AAV9-01exon_skip_421502
2698090269832026982432698243Nonsense_MutationCTp.Q875X
HNSCTCGA-CQ-6221-01exon_skip_421507
2717750271783127177492717749Splice_SiteGCp.D1208_splice

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
HEC6_ENDOMETRIUM2698090269832026981772698177Frame_Shift_DelA-p.K832fs
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2698090269832026981772698177Frame_Shift_DelA-p.K832fs
CW2_LARGE_INTESTINE2698090269832026981762698177Frame_Shift_Ins-Ap.K831fs
GSU_STOMACH2632662263289626327512632751Missense_MutationGCp.R7P
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2632662263289626328292632829Missense_MutationTAp.L33H
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2673848267409926739082673908Missense_MutationAGp.T423A
LS411N_LARGE_INTESTINE2673848267409926739752673975Missense_MutationCTp.T445I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2673848267409926739772673977Missense_MutationCTp.H446Y
RMGI_OVARY2673848267409926740472674047Missense_MutationGAp.R469H
BICR18_UPPER_AERODIGESTIVE_TRACT2673848267409926740732674073Missense_MutationGCp.A478P
BICR18_UPPER_AERODIGESTIVE_TRACT2673848267409926740762674076Missense_MutationAGp.T479A
CAL33_UPPER_AERODIGESTIVE_TRACT2673848267409926740832674083Missense_MutationCGp.P481R
647V_URINARY_TRACT2691233269143126912402691240Missense_MutationCTp.P489L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126912582691258Missense_MutationAGp.N495S
BICR18_UPPER_AERODIGESTIVE_TRACT2691233269143126912582691258Missense_MutationAGp.N495S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126912732691273Missense_MutationACp.H500P
BICR18_UPPER_AERODIGESTIVE_TRACT2691233269143126912732691273Missense_MutationACp.H500P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126912792691279Missense_MutationTCp.V502A
BICR18_UPPER_AERODIGESTIVE_TRACT2691233269143126912792691279Missense_MutationTCp.V502A
NCIH1651_LUNG2691233269143126913002691300Missense_MutationAGp.D509G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126913372691337Missense_MutationGCp.E521D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126913692691369Missense_MutationGAp.G532E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126913772691377Missense_MutationGAp.V535M
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2691233269143126914132691413Missense_MutationTAp.L547M
MOGGCCM_CENTRAL_NERVOUS_SYSTEM2696673269686926967442696744Missense_MutationGAp.S764N
MOGGCCM_CENTRAL_NERVOUS_SYSTEM2696673269685626967442696744Missense_MutationGAp.S764N
CW2_LARGE_INTESTINE2696673269686926967702696770Missense_MutationCTp.H773Y
CW2_LARGE_INTESTINE2696673269685626967702696770Missense_MutationCTp.H773Y
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2698090269832026981922698192Missense_MutationACp.I836L
CHAGOK1_LUNG2698090269832026982102698210Missense_MutationGAp.V842I
IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2698090269832026982132698213Missense_MutationGAp.V843I
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2698090269832026982162698216Missense_MutationGAp.D844N
NCIH2172_LUNG2698090269832026982262698227Missense_MutationGGTTp.R847I
NCIH2172_LUNG2698090269832026982262698226Missense_MutationGTp.R847M
NCIH2172_LUNG2698090269832026982272698227Missense_MutationGTp.R847S
MDAMB453_BREAST2698090269832026982592698259Missense_MutationCTp.S858F
HDQP1_BREAST2698090269832026982982698298Missense_MutationGAp.R871Q
SW48_LARGE_INTESTINE2717750271783127177792717779Missense_MutationCAp.L1218I
ESS1_ENDOMETRIUM2717750271783127177802717780Missense_MutationTCp.L1218P
HCT15_LARGE_INTESTINE2673848267409926739502673950Nonsense_MutationCTp.Q437*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM193A

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_42150542701406:2702271:2709872:2709995:2717749:27178312709872:2709995ENST00000324666.5PRADrs9683962chr4:2709940C/T1.24e-03
exon_skip_42150242696672:2696856:2698089:2698320:2701406:27016652698089:2698320ENST00000513350.1,ENST00000382839.3,ENST00000502458.1,ENST00000505311.1,ENST00000545951.1,ENST00000324666.5PRADrs16843217chr4:2698230G/A1.72e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM193A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM193A


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RelatedDrugs for FAM193A

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 FAM193A

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