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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for HID1

check button Gene summary
Gene informationGene symbol

HID1

Gene ID

283987

Gene nameHID1 domain containing
Synonyms17orf28|C17orf28|DMC1|HID-1
Cytomap

17q25.1

Type of geneprotein-coding
Descriptionprotein HID1HID1 domain-containing proteinUPF0663 transmembrane protein C17orf28down-regulated in multiple cancers 1downregulated in multiple cancer 1protein hid-1 homolog
Modification date20200313
UniProtAcc

E9PIM7,

E9PMS4,

J3KSF1,

X6R4D2,

Context

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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Gene structures and expression levels for HID1

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000167861
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
STGUPENST00000318565.11HID1-201:protein_coding:HID18.734494e+001.028804e+001.309127e-041.299380e-02
CBUPENST00000525128.5HID1-203:retained_intron:HID12.362744e+028.606198e-017.340700e-141.787868e-11
CBUPENST00000530857.1HID1-205:protein_coding:HID16.463372e+011.332595e+002.592717e-134.863050e-11
CBUPENST00000583244.1HID1-214:retained_intron:HID13.772649e+018.517997e-011.007370e-083.021781e-07
CBDOWNENST00000532909.5CHID1-220:nonsense_mediated_decay:CHID11.526878e+01-8.212722e-011.406207e-051.404811e-04
CBDOWNENST00000529539.5CHID1-216:protein_coding:CHID16.692551e+00-8.378066e-012.261220e-041.477737e-03
CBDOWNENST00000525225.1CHID1-208:protein_coding:CHID17.541153e-01-1.185002e+005.396081e-032.096743e-02
TCDOWNENST00000534480.5HID1-210:nonsense_mediated_decay:HID11.349807e+01-9.577530e-019.657362e-051.568569e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HID1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_101961chr1774962973:74963078:74963740:74963910:74972591:7497263074963740:74963910
exon_skip_108187chr1774962973:74963078:74963740:74963910:74972591:7497277174963740:74963910
exon_skip_118354chr1774958203:74958219:74958327:74958763:74958911:7495900174958327:74958763
exon_skip_12092chr1774953006:74953086:74953545:74953651:74954138:7495431274953545:74953651
exon_skip_126888chr1774963740:74963910:74964483:74964632:74972591:7497263074964483:74964632
exon_skip_130239chr1774962987:74963081:74963771:74963910:74964483:7496463274963771:74963910
exon_skip_149419chr1774959881:74959937:74960026:74960248:74961873:7496198974960026:74960248
exon_skip_156213chr1774958327:74958478:74958673:74958763:74958911:7495899474958673:74958763
exon_skip_159561chr1774953006:74953086:74953545:74953651:74954138:7495436574953545:74953651
exon_skip_172856chr1774962965:74963078:74963740:74963910:74972591:7497266974963740:74963910
exon_skip_185203chr1774963844:74963910:74964483:74964632:74972591:7497277174964483:74964632
exon_skip_193811chr1774955821:74955956:74958141:74958219:74958327:7495847874958141:74958219
exon_skip_201966chr1774953006:74953086:74953545:74953651:74954138:7495436474953545:74953651
exon_skip_241808chr1774963771:74963910:74964483:74964632:74972591:7497271674964483:74964632
exon_skip_260391chr1774964483:74964632:74967806:74967933:74972591:7497273074967806:74967933
exon_skip_278168chr1774963740:74963910:74964483:74964632:74972591:7497266974964483:74964632
exon_skip_285613chr1774964483:74964632:74967806:74967933:74972591:7497263074967806:74967933
exon_skip_288912chr1774958203:74958219:74958327:74958791:74958911:7495900174958327:74958791
exon_skip_296362chr1774963740:74963910:74964483:74964632:74972591:7497277174964483:74964632
exon_skip_30264chr1774958327:74958478:74958673:74958763:74958911:7495900174958673:74958763
exon_skip_40914chr1774962987:74963081:74963740:74963910:74964483:7496463274963740:74963910
exon_skip_50708chr1774964483:74964632:74967806:74967933:74972591:7497266974967806:74967933
exon_skip_50804chr1774958976:74959051:74959881:74959937:74960026:7496008974959881:74959937
exon_skip_56319chr1774960026:74960248:74961873:74961989:74962234:7496234074961873:74961989
exon_skip_72131chr1774962973:74963078:74963740:74963910:74972591:7497271674963740:74963910

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_12092Mayo_CB7.835366e-019.018182e-01-1.182816e-017.160302e-08
exon_skip_130239Mayo_CB8.280822e-019.325424e-01-1.044602e-013.516034e-04


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Open reading frame (ORF) annotation in the exon skipping event for HID1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004250427495354574953651Frame-shift
ENST000004250427495867374958763Frame-shift
ENST000004250427496002674960248Frame-shift
ENST000004250427496187374961989In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004250427495354574953651Frame-shift
ENST000004250427496187374961989In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004250427495354574953651Frame-shift
ENST000004250427495814174958219Frame-shift
ENST000004250427495867374958763Frame-shift
ENST000004250427496002674960248Frame-shift
ENST000004250427495988174959937In-frame
ENST000004250427496187374961989In-frame
ENST000004250427496374074963910In-frame

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Infer the effects of exon skipping event on protein functional features for HID1

p-ENSG00000167861_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000042504232887887496187374961989690805204242

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000042504232887887496187374961989690805204242

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000004250423288788749637407496391029546472128
ENST0000042504232887887496187374961989690805204242
ENST000004250423288788749598817495993710301085317335

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q8IV3620424230257Alternative sequenceID=VSP_014472;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IV362042422788ChainID=PRO_0000079296;Note=Protein HID1

check button Lost protein functional features of individual exon skipping events in MSBB.
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
Q8IV3620424230257Alternative sequenceID=VSP_014472;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IV362042422788ChainID=PRO_0000079296;Note=Protein HID1

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q8IV367212830257Alternative sequenceID=VSP_014472;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IV36721282788ChainID=PRO_0000079296;Note=Protein HID1
Q8IV3620424230257Alternative sequenceID=VSP_014472;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IV362042422788ChainID=PRO_0000079296;Note=Protein HID1
Q8IV363173352788ChainID=PRO_0000079296;Note=Protein HID1


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3'-UTR located exon skipping events that lost miRNA binding sites in HID1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for HID1

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for HID1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HID1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for HID1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM6exon_skip_12092-5.445718e-011.170545e-13
CBTRA2Aexon_skip_130239-4.306257e-012.550710e-07
CBRBM4exon_skip_130239-5.642627e-011.843342e-12
CBRBM4Bexon_skip_130239-4.454006e-018.726907e-08
IFGPCBP2exon_skip_56319-5.284192e-015.519578e-03
TCRBM6exon_skip_12092-5.589401e-011.576193e-14
TCG3BP2exon_skip_120924.266410e-011.849176e-08
TCHNRNPH2exon_skip_120924.848110e-018.228245e-11
TCESRP1exon_skip_120924.242118e-012.269298e-08

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RelatedDrugs for HID1

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

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RelatedDiseases for HID1

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