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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 ALS2CL

check button Gene summary
Gene informationGene symbol

ALS2CL

Gene ID

259173

Gene nameALS2 C-terminal like
SynonymsRN49018
Cytomap

3p21.31

Type of geneprotein-coding
DescriptionALS2 C-terminal-like protein
Modification date20180519
UniProtAcc

Q60I27

ContextPubMed: ALS2CL [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 ALS2CL 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 ALS2CL

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 ALS2CL

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_382885346712977:46713074:46713373:46713523:46713629:4671369146713373:46713523ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000383742.3,ENST00000486301.1,ENST00000450172.1
exon_skip_382887346713373:46713523:46713629:46713691:46714828:4671487146713629:46713691ENSG00000178038.12ENST00000473484.1,ENST00000498817.1,ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000383742.3,ENST00000486301.1,ENST00000450172.1
exon_skip_382890346714828:46714871:46716055:46716229:46717107:4671717646716055:46716229ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000383742.3
exon_skip_382911346716055:46716229:46717107:46717176:46717734:4671789246717107:46717176ENSG00000178038.12ENST00000415953.1,ENST00000318962.4,ENST00000383742.3
exon_skip_382913346716055:46716229:46717107:46717466:46717734:4671789246717107:46717466ENSG00000178038.12ENST00000434140.1
exon_skip_382927346717772:46717892:46718131:46718228:46718338:4671851246718131:46718228ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000383742.3,ENST00000450172.1
exon_skip_382934346719748:46719879:46720699:46720777:46721919:4672203146720699:46720777ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000423707.1
exon_skip_382965346721919:46722031:46722735:46722897:46722989:4672306346722735:46722897ENSG00000178038.12ENST00000415953.1,ENST00000318962.4,ENST00000423707.1
exon_skip_382966346721919:46722031:46722735:46722897:46722993:4672308846722735:46722897ENSG00000178038.12ENST00000434140.1
exon_skip_382973346723518:46723584:46724619:46724816:46725271:4672533846724619:46724816ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000450172.1
exon_skip_382974346723518:46723584:46724623:46724816:46725271:4672533846724623:46724816ENSG00000178038.12ENST00000423707.1
exon_skip_382978346725478:46725537:46727014:46727134:46727797:4672792946727014:46727134ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000450172.1
exon_skip_382981346727797:46727929:46728472:46728638:46729108:4672917446728472:46728638ENSG00000178038.12ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000450172.1
exon_skip_382983346729587:46729786:46730827:46730955:46735132:4673516646730827:46730955ENSG00000178038.12ENST00000434140.1,ENST00000318962.4,ENST00000431015.1,ENST00000450172.1

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

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Exon skipping events with PSIs in GTEx for ALS2CL

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_382885346712977:46713074:46713373:46713523:46713629:4671369146713373:46713523ENSG00000178038.12ENST00000486301.1,ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1
exon_skip_382887346713373:46713523:46713629:46713691:46714828:4671487146713629:46713691ENSG00000178038.12ENST00000486301.1,ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1,ENST00000498817.1,ENST00000473484.1
exon_skip_382890346714828:46714871:46716055:46716229:46717107:4671717646716055:46716229ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3
exon_skip_382911346716055:46716229:46717107:46717176:46717734:4671789246717107:46717176ENSG00000178038.12ENST00000318962.4,ENST00000415953.1,ENST00000383742.3
exon_skip_382913346716055:46716229:46717107:46717466:46717734:4671789246717107:46717466ENSG00000178038.12ENST00000434140.1
exon_skip_382927346717772:46717892:46718131:46718228:46718338:4671851246718131:46718228ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1
exon_skip_382934346719748:46719879:46720699:46720777:46721919:4672203146720699:46720777ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000423707.1
exon_skip_382966346721919:46722031:46722735:46722897:46722993:4672308846722735:46722897ENSG00000178038.12ENST00000434140.1
exon_skip_382973346723518:46723584:46724619:46724816:46725271:4672533846724619:46724816ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000431015.1,ENST00000450172.1
exon_skip_382974346723518:46723584:46724623:46724816:46725271:4672533846724623:46724816ENSG00000178038.12ENST00000423707.1
exon_skip_382978346725478:46725537:46727014:46727134:46727797:4672792946727014:46727134ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1
exon_skip_382981346727797:46727929:46728472:46728638:46729108:4672917446728472:46728638ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1
exon_skip_382983346729587:46729786:46730827:46730955:46735132:4673516646730827:46730955ENSG00000178038.12ENST00000318962.4,ENST00000434140.1,ENST00000431015.1,ENST00000450172.1

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 ALS2CL

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
ENST0000031896246730827467309553UTR-3CDS
ENST000003189624671362946713691Frame-shift
ENST000004159534671362946713691Frame-shift
ENST000003189624671813146718228Frame-shift
ENST000004159534671813146718228Frame-shift
ENST000003189624672461946724816Frame-shift
ENST000004159534672461946724816Frame-shift
ENST000003189624672847246728638Frame-shift
ENST000004159534672847246728638Frame-shift
ENST000003189624671337346713523In-frame
ENST000004159534671337346713523In-frame
ENST000003189624671605546716229In-frame
ENST000004159534671605546716229In-frame
ENST000003189624671710746717176In-frame
ENST000004159534671710746717176In-frame
ENST000003189624672069946720777In-frame
ENST000004159534672069946720777In-frame
ENST000003189624672273546722897In-frame
ENST000004159534672273546722897In-frame
ENST000003189624672701446727134In-frame
ENST000004159534672701446727134In-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
ENST0000031896246730827467309553UTR-3CDS
ENST000003189624671362946713691Frame-shift
ENST000004159534671362946713691Frame-shift
ENST000003189624671813146718228Frame-shift
ENST000004159534671813146718228Frame-shift
ENST000003189624672461946724816Frame-shift
ENST000004159534672461946724816Frame-shift
ENST000003189624672847246728638Frame-shift
ENST000004159534672847246728638Frame-shift
ENST000003189624671337346713523In-frame
ENST000004159534671337346713523In-frame
ENST000003189624671605546716229In-frame
ENST000004159534671605546716229In-frame
ENST000003189624671710746717176In-frame
ENST000004159534671710746717176In-frame
ENST000003189624672069946720777In-frame
ENST000004159534672069946720777In-frame
ENST000003189624672701446727134In-frame
ENST000004159534672701446727134In-frame

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Infer the effects of exon skipping event on protein functional features for ALS2CL

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
ENST0000031896247589534672701446727134751870222262
ENST0000041595334889534672701446727134857976222262
ENST000003189624758953467227354672289713591520425478
ENST000004159533488953467227354672289714651626425478
ENST000003189624758953467206994672077716331710516542
ENST000004159533488953467206994672077717391816516542
ENST000003189624758953467171074671717622712339729751
ENST000004159533488953467171074671717623772445729751
ENST000003189624758953467160554671622923402513752809
ENST000004159533488953467160554671622924462619752809
ENST000003189624758953467133734671352326192768845894
ENST000004159533488953467133734671352327252874845894

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
ENST0000031896247589534672701446727134751870222262
ENST0000041595334889534672701446727134857976222262
ENST000003189624758953467206994672077716331710516542
ENST000004159533488953467206994672077717391816516542
ENST000003189624758953467171074671717622712339729751
ENST000004159533488953467171074671717623772445729751
ENST000003189624758953467160554671622923402513752809
ENST000004159533488953467160554671622924462619752809
ENST000003189624758953467133734671352326192768845894
ENST000004159533488953467133734671352327252874845894

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


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


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SNVs in the skipped exons for ALS2CL

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-G3-A3CJ-01exon_skip_382885
46713374467135234671343546713435Frame_Shift_DelC-p.E875fs
LIHCTCGA-G3-A3CJ-01exon_skip_382890
46716056467162294671613846716138Frame_Shift_DelC-p.E783fs
HNSCTCGA-CV-A461-0146720700467207774672072846720728Frame_Shift_DelA-p.F533fs
LIHCTCGA-G3-A3CJ-01exon_skip_382965
exon_skip_382966
46722736467228974672280946722809Frame_Shift_DelG-p.Q455fs
STADTCGA-CD-A4MG-01exon_skip_382965
exon_skip_382966
46722736467228974672280946722809Frame_Shift_DelG-p.Q455fs
LIHCTCGA-DD-A1EG-01exon_skip_382973
exon_skip_382974
46724620467248164672474146724741Frame_Shift_DelC-p.A330fs
LIHCTCGA-DD-A1EG-01exon_skip_382973
exon_skip_382974
46724624467248164672474146724741Frame_Shift_DelC-p.A330fs
LIHCTCGA-DD-A3A0-01exon_skip_382981
46728473467286384672852946728529Frame_Shift_DelG-p.H161fs
KICHTCGA-KO-8408-01exon_skip_382981
46728473467286384672854046728541Frame_Shift_Ins-Gp.Q156fs
UCECTCGA-AP-A059-01exon_skip_382911
46717108467171764671711546717115Nonsense_MutationCAp.E750*
UCECTCGA-AP-A059-01exon_skip_382913
46717108467174664671711546717115Nonsense_MutationCAp.E750*
SKCMTCGA-FR-A726-01exon_skip_382965
exon_skip_382966
46722736467228974672278346722783Nonsense_MutationCTp.W463*
UCECTCGA-B5-A0JY-01exon_skip_382965
exon_skip_382966
46722736467228974672278346722783Nonsense_MutationCTp.W463*
SKCMTCGA-FR-A726-01exon_skip_382965
exon_skip_382966
46722736467228974672278446722784Nonsense_MutationCTp.W463*
LUADTCGA-17-Z059-01exon_skip_382965
exon_skip_382966
46722736467228974672280946722809Nonsense_MutationGAp.Q455*

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
CW2_LARGE_INTESTINE46722736467228974672287346722874Frame_Shift_Ins-Ap.K433fs
JHUEM7_ENDOMETRIUM46713374467135234671345246713452Missense_MutationGAp.S869L
BCPAP_THYROID46713374467135234671345846713458Missense_MutationGAp.T867M
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46713374467135234671346746713467Missense_MutationAGp.I864T
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46713374467135234671348046713480Missense_MutationTCp.T860A
CW2_LARGE_INTESTINE46713630467136914671364546713645Missense_MutationCTp.C840Y
JHUEM7_ENDOMETRIUM46713630467136914671367246713672Missense_MutationTCp.D831G
NCIH835_LUNG46716056467162294671607546716075Missense_MutationCTp.E804K
AN3CA_ENDOMETRIUM46716056467162294671611346716113Missense_MutationAGp.I791T
LNCAPCLONEFGC_PROSTATE46716056467162294671613646716136Missense_MutationCAp.E783D
SNGM_ENDOMETRIUM46716056467162294671621246716212Missense_MutationCGp.G758A
C33A_CERVIX46720700467207774672071846720718Missense_MutationGTp.D536E
RL952_ENDOMETRIUM46720700467207774672075846720758Missense_MutationGCp.S523C
NCIH1373_LUNG46722736467228974672281746722817Missense_MutationTGp.Q452P
PLCPRF5_LIVER46722736467228974672281746722817Missense_MutationTGp.Q452P
YH13_CENTRAL_NERVOUS_SYSTEM46722736467228974672285146722851Missense_MutationGAp.R441W
JHUEM3_ENDOMETRIUM46724620467248164672462446724624Missense_MutationCTp.G369S
JHUEM3_ENDOMETRIUM46724624467248164672462446724624Missense_MutationCTp.G369S
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46727015467271344672707146727071Missense_MutationCTp.A244T
NCIH1781_LUNG46727015467271344672713146727131Missense_MutationCTp.V224M
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46728473467286384672853246728532Missense_MutationCTp.A159T
MDAPCA2B_PROSTATE46728473467286384672854246728542Missense_MutationGTp.H155Q
RL952_ENDOMETRIUM46728473467286384672860746728607Missense_MutationGAp.R134W
RMUGS_OVARY46730828467309554673087046730870Missense_MutationCTp.A21T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM46730828467309554673092746730927Missense_MutationAGp.C2R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALS2CL

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 ALS2CL


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALS2CL


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RelatedDrugs for ALS2CL

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 ALS2CL

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ALS2CLC0036341Schizophrenia1CTD_human