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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 FAM184A

check button Gene summary
Gene informationGene symbol

FAM184A

Gene ID

79632

Gene namefamily with sequence similarity 184 member A
SynonymsC6orf60
Cytomap

6q22.31

Type of geneprotein-coding
Descriptionprotein FAM184A
Modification date20180522
UniProtAcc

Q8NB25

ContextPubMed: FAM184A [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 FAM184A 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 FAM184A

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 FAM184A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4620386119281267:119281349:119281933:119282028:119282925:119283128119281933:119282028ENSG00000111879.14ENST00000475529.2
exon_skip_4620406119281267:119281349:119281933:119282028:119285831:119285936119281933:119282028ENSG00000111879.14ENST00000368472.2
exon_skip_4620416119281267:119281349:119282925:119283128:119285831:119285905119282925:119283128ENSG00000111879.14ENST00000352896.5,ENST00000338891.7
exon_skip_4620426119281267:119281349:119282925:119283128:119287999:119288117119282925:119283128ENSG00000111879.14ENST00000368475.4,ENST00000521531.1,ENST00000521043.1
exon_skip_4620446119281267:119281349:119283093:119283128:119285831:119285905119283093:119283128ENSG00000111879.14ENST00000517987.1
exon_skip_4620466119281267:119281349:119283093:119283161:119285831:119285905119283093:119283161ENSG00000111879.14ENST00000481884.2
exon_skip_4620486119281933:119282028:119282925:119283128:119285831:119285936119282925:119283128ENSG00000111879.14ENST00000475529.2
exon_skip_4620526119283093:119283128:119285831:119285936:119287999:119288117119285831:119285936ENSG00000111879.14ENST00000352896.5,ENST00000475529.2,ENST00000338891.7
exon_skip_4620546119287999:119288117:119295592:119295739:119296188:119296373119295592:119295739ENSG00000111879.14ENST00000475529.2,ENST00000521043.1,ENST00000338891.7
exon_skip_4620556119337911:119338109:119341142:119341324:119344109:119344245119341142:119341324ENSG00000111879.14ENST00000368475.4,ENST00000521531.1,ENST00000352896.5,ENST00000522284.1,ENST00000338891.7
exon_skip_4620566119341142:119341324:119344109:119344245:119345123:119345978119344109:119344245ENSG00000111879.14ENST00000368475.4,ENST00000521531.1,ENST00000352896.5,ENST00000522284.1,ENST00000338891.7
exon_skip_4620596119344109:119344245:119345123:119345978:119399305:119399537119345123:119345978ENSG00000111879.14ENST00000521531.1,ENST00000338891.7

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

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Exon skipping events with PSIs in GTEx for FAM184A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4620386119281267:119281349:119281933:119282028:119282925:119283128119281933:119282028ENSG00000111879.14ENST00000475529.2
exon_skip_4620406119281267:119281349:119281933:119282028:119285831:119285936119281933:119282028ENSG00000111879.14ENST00000368472.2
exon_skip_4620416119281267:119281349:119282925:119283128:119285831:119285905119282925:119283128ENSG00000111879.14ENST00000338891.7,ENST00000352896.5
exon_skip_4620426119281267:119281349:119282925:119283128:119287999:119288117119282925:119283128ENSG00000111879.14ENST00000521043.1,ENST00000368475.4,ENST00000521531.1
exon_skip_4620446119281267:119281349:119283093:119283128:119285831:119285905119283093:119283128ENSG00000111879.14ENST00000517987.1
exon_skip_4620466119281267:119281349:119283093:119283161:119285831:119285905119283093:119283161ENSG00000111879.14ENST00000481884.2
exon_skip_4620486119281933:119282028:119282925:119283128:119285831:119285936119282925:119283128ENSG00000111879.14ENST00000475529.2
exon_skip_4620526119283093:119283128:119285831:119285936:119287999:119288117119285831:119285936ENSG00000111879.14ENST00000338891.7,ENST00000475529.2,ENST00000352896.5
exon_skip_4620546119287999:119288117:119295592:119295739:119296188:119296373119295592:119295739ENSG00000111879.14ENST00000521043.1,ENST00000338891.7,ENST00000475529.2
exon_skip_4620556119337911:119338109:119341142:119341324:119344109:119344245119341142:119341324ENSG00000111879.14ENST00000338891.7,ENST00000352896.5,ENST00000368475.4,ENST00000521531.1,ENST00000522284.1
exon_skip_4620566119341142:119341324:119344109:119344245:119345123:119345978119344109:119344245ENSG00000111879.14ENST00000338891.7,ENST00000352896.5,ENST00000368475.4,ENST00000521531.1,ENST00000522284.1
exon_skip_4620596119344109:119344245:119345123:119345978:119399305:119399537119345123:119345978ENSG00000111879.14ENST00000338891.7,ENST00000521531.1

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 FAM184A

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
ENST00000338891119282925119283128Frame-shift
ENST00000338891119341142119341324Frame-shift
ENST00000338891119344109119344245Frame-shift
ENST00000338891119285831119285936In-frame
ENST00000338891119295592119295739In-frame
ENST00000338891119345123119345978In-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
ENST00000338891119282925119283128Frame-shift
ENST00000338891119341142119341324Frame-shift
ENST00000338891119344109119344245Frame-shift
ENST00000338891119285831119285936In-frame
ENST00000338891119295592119295739In-frame
ENST00000338891119345123119345978In-frame

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Infer the effects of exon skipping event on protein functional features for FAM184A

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
ENST0000033889141581140119345123119345978604145853338
ENST000003388914158114011929559211929573932133359923971
ENST00000338891415811401192858311192859363478358210111046

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
ENST0000033889141581140119345123119345978604145853338
ENST000003388914158114011929559211929573932133359923971
ENST00000338891415811401192858311192859363478358210111046

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
Q8NB25533381120Alternative sequenceID=VSP_044520;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8NB255333811140ChainID=PRO_0000089512;Note=Protein FAM184A
Q8NB255333857256Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8NB2553338296800Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8NB2553338174174Natural variantID=VAR_054101;Note=Q->H;Dbxref=dbSNP:rs34681930
Q8NB2553338177177Natural variantID=VAR_054102;Note=V->G;Dbxref=dbSNP:rs34977570
Q8NB25923971924972Alternative sequenceID=VSP_007446;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005
Q8NB2592397111140ChainID=PRO_0000089512;Note=Protein FAM184A
Q8NB251011104610121046Alternative sequenceID=VSP_007447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8NB251011104611140ChainID=PRO_0000089512;Note=Protein FAM184A


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
Q8NB25533381120Alternative sequenceID=VSP_044520;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8NB255333811140ChainID=PRO_0000089512;Note=Protein FAM184A
Q8NB255333857256Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8NB2553338296800Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8NB2553338174174Natural variantID=VAR_054101;Note=Q->H;Dbxref=dbSNP:rs34681930
Q8NB2553338177177Natural variantID=VAR_054102;Note=V->G;Dbxref=dbSNP:rs34977570
Q8NB25923971924972Alternative sequenceID=VSP_007446;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005
Q8NB2592397111140ChainID=PRO_0000089512;Note=Protein FAM184A
Q8NB251011104610121046Alternative sequenceID=VSP_007447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8NB251011104611140ChainID=PRO_0000089512;Note=Protein FAM184A


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SNVs in the skipped exons for FAM184A

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-A1EG-01exon_skip_462041
exon_skip_462042
exon_skip_462048
119282926119283128119282929119282929Frame_Shift_DelA-p.L1113fs
LIHCTCGA-DD-A39Y-01exon_skip_462041
exon_skip_462042
exon_skip_462048
119282926119283128119282929119282929Frame_Shift_DelA-p.L1113fs
LIHCTCGA-DD-A1EG-01exon_skip_462041
exon_skip_462042
exon_skip_462048
119282926119283128119282946119282946Frame_Shift_DelT-p.K1107fs
LIHCTCGA-G3-A3CJ-01exon_skip_462054
119295593119295739119295662119295662Frame_Shift_DelT-p.N949fs
LIHCTCGA-DD-A1EG-01exon_skip_462054
119295593119295739119295703119295703Frame_Shift_DelT-p.K935fs
LIHCTCGA-DD-A3A0-01exon_skip_462054
119295593119295739119295703119295703Frame_Shift_DelT-p.K935fs
LIHCTCGA-DD-A39Y-01exon_skip_462055
119341143119341324119341254119341254Frame_Shift_DelT-p.K407fs
STADTCGA-BR-A4QL-01exon_skip_462056
119344110119344245119344234119344234Frame_Shift_DelT-p.K342fs
STADTCGA-BR-A4QL-01exon_skip_462056
119344110119344245119344234119344234Frame_Shift_DelT-p.Q343fs
LIHCTCGA-DD-A1EG-01exon_skip_462059
119345124119345978119345164119345164Frame_Shift_DelT-p.K325fs
LIHCTCGA-DD-A1EG-01exon_skip_462059
119345124119345978119345237119345237Frame_Shift_DelT-p.T301fs
LIHCTCGA-DD-A3A0-01exon_skip_462059
119345124119345978119345237119345237Frame_Shift_DelT-p.T301fs
KIRPTCGA-5P-A9K0-01exon_skip_462059
119345124119345978119345322119345322Frame_Shift_DelA-p.T273fs
STADTCGA-CG-5728-01exon_skip_462059
119345124119345978119345777119345777Frame_Shift_DelT-p.M121fs
LIHCTCGA-DD-A1EG-01exon_skip_462059
119345124119345978119345806119345806Frame_Shift_DelA-p.L111fs
LIHCTCGA-G3-A3CJ-01exon_skip_462059
119345124119345978119345806119345806Frame_Shift_DelA-p.L111fs
LIHCTCGA-BC-A112-01exon_skip_462055
119341143119341324119341253119341254Frame_Shift_Ins-Tp.NE407fs
HNSCTCGA-CV-7440-01exon_skip_462055
119341143119341324119341265119341265Nonsense_MutationCAp.E404*
ESCATCGA-LN-A7HX-01exon_skip_462059
119345124119345978119345270119345270Nonsense_MutationCAp.E290*
ESCATCGA-LN-A7HX-01exon_skip_462059
119345124119345978119345270119345270Nonsense_MutationCAp.E290X
SKCMTCGA-DA-A3F3-06exon_skip_462059
119345124119345978119345372119345372Nonsense_MutationGAp.Q256*
SKCMTCGA-DA-A3F3-06exon_skip_462059
119345124119345978119345372119345372Nonsense_MutationGAp.Q256X
SARCTCGA-IE-A4EK-01exon_skip_462059
119345124119345978119345393119345393Nonsense_MutationCAp.E249*
SKCMTCGA-FS-A1Z3-06exon_skip_462059
119345124119345978119345394119345394Nonsense_MutationATp.Y248*
SKCMTCGA-FS-A1Z3-06exon_skip_462059
119345124119345978119345394119345394Nonsense_MutationATp.Y248X
HNSCTCGA-CV-7177-01exon_skip_462055
119341143119341324119341142119341142Splice_SiteCTp.K444_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
2313287_STOMACH119344110119344245119344234119344234Frame_Shift_DelT-p.K342fs
EFO21_OVARY119341143119341324119341203119341204Frame_Shift_Ins-Ap.L424fs
COLO792_SKIN119282926119283128119282996119282996Missense_MutationCTp.D1091N
M059J_CENTRAL_NERVOUS_SYSTEM119282926119283128119283047119283047Missense_MutationCTp.G1074S
IPC298_SKIN119282926119283128119283123119283123Missense_MutationCAp.K1048N
IPC298_SKIN119283094119283161119283123119283123Missense_MutationCAp.K1048N
IPC298_SKIN119283094119283128119283123119283123Missense_MutationCAp.K1048N
SNU81_LARGE_INTESTINE119295593119295739119295713119295713Missense_MutationCAp.R932I
D392MG_CENTRAL_NERVOUS_SYSTEM119295593119295739119295733119295733Missense_MutationACp.H925Q
KYSE410_OESOPHAGUS119341143119341324119341217119341217Missense_MutationCGp.E420Q
HUG1N_STOMACH119344110119344245119344192119344192Missense_MutationGCp.S356R
CAPAN1_PANCREAS119345124119345978119345128119345128Missense_MutationACp.V337G
HEC6_ENDOMETRIUM119345124119345978119345155119345155Missense_MutationGAp.T328M
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345155119345155Missense_MutationGAp.T328M
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345284119345284Missense_MutationGAp.A285V
HEC108_ENDOMETRIUM119345124119345978119345318119345318Missense_MutationCTp.A274T
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345374119345374Missense_MutationGAp.A255V
HCC1569_BREAST119345124119345978119345453119345453Missense_MutationAGp.S229P
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345458119345458Missense_MutationAGp.V227A
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345458119345458Missense_MutationAGp.V227A
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345552119345552Missense_MutationGAp.R196W
NCIH28_PLEURA119345124119345978119345618119345618Missense_MutationGTp.Q174K
JHUEM7_ENDOMETRIUM119345124119345978119345888119345888Missense_MutationGTp.L84I
CW2_LARGE_INTESTINE119345124119345978119345924119345924Missense_MutationGAp.L72F
NCIH1648_LUNG119345124119345978119345947119345947Missense_MutationTAp.E64V
SNU81_LARGE_INTESTINE119345124119345978119345963119345963Missense_MutationTGp.N59H
HEC108_ENDOMETRIUM119345124119345978119345972119345972Missense_MutationAGp.Y56H
TE4_OESOPHAGUS119295593119295739119295729119295729Nonsense_MutationGAp.Q927*
HCC2998_LARGE_INTESTINE119341143119341324119341154119341154Nonsense_MutationCAp.E441*
SH4_SKIN119345124119345978119345813119345813Nonsense_MutationGAp.Q109*
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE119345124119345978119345894119345894Nonsense_MutationGAp.Q82*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM184A

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 FAM184A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM184A


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RelatedDrugs for FAM184A

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 FAM184A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FAM184AC0236969Substance-Related Disorders1CTD_human