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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 ALPK1

check button Gene summary
Gene informationGene symbol

ALPK1

Gene ID

80216

Gene namealpha kinase 1
Synonyms8430410J10Rik|LAK
Cytomap

4q25

Type of geneprotein-coding
Descriptionalpha-protein kinase 1chromosome 4 kinaselymphocyte alpha-kinaselymphocyte alpha-protein kinase
Modification date20180519
UniProtAcc

Q96QP1

ContextPubMed: ALPK1 [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 ALPK1 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 ALPK1

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 ALPK1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4257904113218556:113218625:113223494:113223564:113236956:113237007113223494:113223564ENSG00000073331.13ENST00000426472.2
exon_skip_4257914113218556:113218625:113223494:113223641:113236956:113237007113223494:113223641ENSG00000073331.13ENST00000505176.1
exon_skip_4257924113218556:113218625:113236956:113237008:113264167:113264432113236956:113237008ENSG00000073331.13ENST00000502366.1
exon_skip_4257934113218556:113218625:113236956:113237008:113298833:113299054113236956:113237008ENSG00000073331.13ENST00000515106.1,ENST00000458497.1,ENST00000515330.1,ENST00000505127.1
exon_skip_4258014113298885:113299054:113303553:113303708:113332982:113333181113303553:113303708ENSG00000073331.13ENST00000458497.1,ENST00000515330.1,ENST00000177648.9,ENST00000505127.1
exon_skip_4258054113332982:113333181:113344881:113345159:113346820:113346849113344881:113345159ENSG00000073331.13ENST00000515330.1
exon_skip_4258064113332982:113333181:113345099:113345159:113346820:113346849113345099:113345159ENSG00000073331.13ENST00000509722.1,ENST00000458497.1,ENST00000177648.9,ENST00000505127.1,ENST00000504745.1,ENST00000504176.2
exon_skip_4258114113348725:113348821:113350304:113350409:113351603:113353737113350304:113350409ENSG00000073331.13ENST00000509722.1,ENST00000458497.1,ENST00000177648.9,ENST00000504745.1,ENST00000504176.2
exon_skip_4258124113348725:113348821:113350304:113350409:113356303:113356457113350304:113350409ENSG00000073331.13ENST00000505127.1
exon_skip_4258154113350304:113350409:113351603:113353737:113356303:113356457113351603:113353737ENSG00000073331.13ENST00000509722.1,ENST00000458497.1,ENST00000177648.9,ENST00000504745.1,ENST00000504176.2

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

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Exon skipping events with PSIs in GTEx for ALPK1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4257904113218556:113218625:113223494:113223564:113236956:113237007113223494:113223564ENSG00000073331.13ENST00000426472.2
exon_skip_4257914113218556:113218625:113223494:113223641:113236956:113237007113223494:113223641ENSG00000073331.13ENST00000505176.1
exon_skip_4257924113218556:113218625:113236956:113237008:113264167:113264432113236956:113237008ENSG00000073331.13ENST00000502366.1
exon_skip_4257934113218556:113218625:113236956:113237008:113298833:113299054113236956:113237008ENSG00000073331.13ENST00000458497.1,ENST00000505127.1,ENST00000515330.1,ENST00000515106.1
exon_skip_4258014113298885:113299054:113303553:113303708:113332982:113333181113303553:113303708ENSG00000073331.13ENST00000458497.1,ENST00000177648.9,ENST00000505127.1,ENST00000515330.1
exon_skip_4258054113332982:113333181:113344881:113345159:113346820:113346849113344881:113345159ENSG00000073331.13ENST00000515330.1
exon_skip_4258064113332982:113333181:113345099:113345159:113346820:113346849113345099:113345159ENSG00000073331.13ENST00000458497.1,ENST00000177648.9,ENST00000509722.1,ENST00000504176.2,ENST00000505127.1,ENST00000504745.1
exon_skip_4258114113348725:113348821:113350304:113350409:113351603:113353737113350304:113350409ENSG00000073331.13ENST00000458497.1,ENST00000177648.9,ENST00000509722.1,ENST00000504176.2,ENST00000504745.1
exon_skip_4258124113348725:113348821:113350304:113350409:113356303:113356457113350304:113350409ENSG00000073331.13ENST00000505127.1
exon_skip_4258154113350304:113350409:113351603:113353737:113356303:113356457113351603:113353737ENSG00000073331.13ENST00000458497.1,ENST00000177648.9,ENST00000509722.1,ENST00000504176.2,ENST00000504745.1

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 ALPK1

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
ENST000004584971132369561132370085UTR-5UTR
ENST00000177648113303553113303708Frame-shift
ENST00000458497113303553113303708Frame-shift
ENST00000177648113351603113353737Frame-shift
ENST00000458497113351603113353737Frame-shift
ENST00000177648113345099113345159In-frame
ENST00000458497113345099113345159In-frame
ENST00000177648113350304113350409In-frame
ENST00000458497113350304113350409In-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
ENST000004584971132369561132370085UTR-5UTR
ENST00000177648113303553113303708Frame-shift
ENST00000458497113303553113303708Frame-shift
ENST00000177648113351603113353737Frame-shift
ENST00000458497113351603113353737Frame-shift
ENST00000177648113345099113345159In-frame
ENST00000458497113345099113345159In-frame
ENST00000177648113350304113350409In-frame
ENST00000458497113350304113350409In-frame

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Infer the effects of exon skipping event on protein functional features for ALPK1

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
ENST0000017764845541244113345099113345159676735158178
ENST0000045849754271244113345099113345159755814158178
ENST00000177648455412441133503041133504099961100265300
ENST000004584975427124411335030411335040910751179265300

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
ENST0000017764845541244113345099113345159676735158178
ENST0000045849754271244113345099113345159755814158178
ENST00000177648455412441133503041133504099961100265300
ENST000004584975427124411335030411335040910751179265300

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
Q96QP115817811244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP115817811244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP1158178175175Natural variantID=VAR_028982;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs6533616,PMID:17344846
Q96QP1158178175175Natural variantID=VAR_028982;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs6533616,PMID:17344846
Q96QP1265300295295Binding siteNote=ADP-D-glycero-beta-D-manno-heptose;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP1265300295295Binding siteNote=ADP-D-glycero-beta-D-manno-heptose;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP126530011244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP126530011244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP1265300295295MutagenesisNote=Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity%3B when associated with E-237. F->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP1265300295295MutagenesisNote=Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity%3B when associated with E-237. F->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP1265300292292Natural variantID=VAR_041512;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34120296,PMID:17344846
Q96QP1265300292292Natural variantID=VAR_041512;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34120296,PMID:17344846


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
Q96QP115817811244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP115817811244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP1158178175175Natural variantID=VAR_028982;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs6533616,PMID:17344846
Q96QP1158178175175Natural variantID=VAR_028982;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs6533616,PMID:17344846
Q96QP1265300295295Binding siteNote=ADP-D-glycero-beta-D-manno-heptose;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP1265300295295Binding siteNote=ADP-D-glycero-beta-D-manno-heptose;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP126530011244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP126530011244ChainID=PRO_0000260028;Note=Alpha-protein kinase 1
Q96QP1265300295295MutagenesisNote=Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity%3B when associated with E-237. F->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP1265300295295MutagenesisNote=Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity%3B when associated with E-237. F->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30111836;Dbxref=PMID:30111836
Q96QP1265300292292Natural variantID=VAR_041512;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34120296,PMID:17344846
Q96QP1265300292292Natural variantID=VAR_041512;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34120296,PMID:17344846


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SNVs in the skipped exons for ALPK1

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.
ALPK1_HNSC_exon_skip_425815_psi_boxplot.png
boxplot
ALPK1_SKCM_exon_skip_425815_psi_boxplot.png
boxplot
ALPK1_STAD_exon_skip_425815_psi_boxplot.png
boxplot

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_425801
113303554113303708113303594113303594Frame_Shift_DelA-p.A54fs
ACCTCGA-OR-A5KT-01exon_skip_425815
113351604113353737113352982113352982Frame_Shift_DelG-p.R760fs
GBMTCGA-14-0786-01exon_skip_425815
113351604113353737113353098113353098Frame_Shift_DelC-p.P799fs
LIHCTCGA-G3-A3CJ-01exon_skip_425815
113351604113353737113353202113353202Frame_Shift_DelA-p.R833fs
LIHCTCGA-G3-A3CJ-01exon_skip_425815
113351604113353737113353265113353265Frame_Shift_DelG-p.E854fs
HNSCTCGA-CV-7242-01exon_skip_425815
113351604113353737113351810113351811Frame_Shift_Ins-Gp.H369fs
HNSCTCGA-CV-7242-01exon_skip_425815
113351604113353737113351810113351811Frame_Shift_Ins-Gp.QG369fs
STADTCGA-CG-5728-01exon_skip_425815
113351604113353737113352134113352135Frame_Shift_Ins-Ap.N477fs
STADTCGA-CG-5728-01exon_skip_425815
113351604113353737113352135113352136Frame_Shift_Ins-Ap.N477fs
LUADTCGA-67-4679-01exon_skip_425815
113351604113353737113351658113351658Nonsense_MutationGTp.E319*
SKCMTCGA-D9-A6EC-06exon_skip_425815
113351604113353737113352339113352339Nonsense_MutationCTp.R546*
SKCMTCGA-D9-A6EC-06exon_skip_425815
113351604113353737113352339113352339Nonsense_MutationCTp.R546X
SKCMTCGA-FR-A7U9-06exon_skip_425815
113351604113353737113352339113352339Nonsense_MutationCTp.R546*
HNSCTCGA-D6-6826-01exon_skip_425815
113351604113353737113352354113352354Nonsense_MutationCTp.Q551*
HNSCTCGA-TN-A7HL-01exon_skip_425815
113351604113353737113352354113352354Nonsense_MutationCTp.Q551*
SKCMTCGA-FW-A3R5-06exon_skip_425815
113351604113353737113352918113352918Nonsense_MutationCTp.Q739*
SKCMTCGA-FW-A3R5-06exon_skip_425815
113351604113353737113352918113352918Nonsense_MutationCTp.Q739X
STADTCGA-HU-A4GX-01exon_skip_425815
113351604113353737113351602113351602Splice_SiteAG.
STADTCGA-HU-A4GX-01exon_skip_425815
113351604113353737113351602113351602Splice_SiteAGp.N301_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ALPK1_113350304_113350409_113351603_113353737_113356303_113356457_TCGA-HU-A4GX-01Sample: TCGA-HU-A4GX-01
Cancer type: STAD
ESID: exon_skip_425815
Skipped exon start: 113351604
Skipped exon end: 113353737
Mutation start: 113351602
Mutation end: 113351602
Mutation type: Splice_Site
Reference seq: A
Mutation seq: G
AAchange: .
ALPK1_113350304_113350409_113351603_113353737_113356303_113356457_TCGA-HU-A4GX-01Sample: TCGA-HU-A4GX-01
Cancer type: STAD
ESID: exon_skip_425815
Skipped exon start: 113351604
Skipped exon end: 113353737
Mutation start: 113351602
Mutation end: 113351602
Mutation type: Splice_Site
Reference seq: A
Mutation seq: G
AAchange: p.N301_splice
exon_skip_314019_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_3151_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_339350_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_339351_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_339352_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_353916_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_376639_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_377238_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_42171_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_425815_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_432212_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_4414_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_458618_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_459316_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_91143_STAD_TCGA-HU-A4GX-01.png
boxplot
exon_skip_95945_STAD_TCGA-HU-A4GX-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCC202_BREAST113351604113353737113352188113352189Frame_Shift_DelAG-p.E496fs
CJM_SKIN113351604113353737113352620113352629Frame_Shift_DelTTCATTGCAT-p.HSLH639fs
HCT116_LARGE_INTESTINE113351604113353737113353512113353512Frame_Shift_DelT-p.F937fs
SNUC2A_LARGE_INTESTINE113351604113353737113353704113353705Frame_Shift_Ins-Tp.V1001fs
SNUC2B_LARGE_INTESTINE113351604113353737113353704113353705Frame_Shift_Ins-Tp.V1001fs
BICR18_UPPER_AERODIGESTIVE_TRACT113303554113303708113303557113303557Missense_MutationTCp.L42S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113303554113303708113303557113303557Missense_MutationTCp.L42S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113303554113303708113303557113303557Missense_MutationTCp.L42S
PWR1E_PROSTATE113303554113303708113303562113303562Missense_MutationCTp.P44S
BICR18_UPPER_AERODIGESTIVE_TRACT113303554113303708113303595113303595Missense_MutationAGp.K55E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113303554113303708113303595113303595Missense_MutationAGp.K55E
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113303554113303708113303595113303595Missense_MutationAGp.K55E
HCT15_LARGE_INTESTINE113303554113303708113303614113303614Missense_MutationTCp.F61S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113303554113303708113303646113303646Missense_MutationGAp.V72M
OCUBM_BREAST113303554113303708113303671113303671Missense_MutationTCp.L80P
SNU1040_LARGE_INTESTINE113344882113345159113345130113345130Missense_MutationGAp.S169N
SNU1040_LARGE_INTESTINE113345100113345159113345130113345130Missense_MutationGAp.S169N
DMS114_LUNG113350305113350409113350386113350386Missense_MutationCAp.P293T
GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113351694113351694Missense_MutationGAp.A331T
ISTMEL1_SKIN113351604113353737113351778113351778Missense_MutationTAp.F359I
UCH2_BONE113351604113353737113351869113351869Missense_MutationTGp.L389R
SARC9371_BONE113351604113353737113351887113351887Missense_MutationCTp.S395F
KYSE70_OESOPHAGUS113351604113353737113351940113351940Missense_MutationGAp.A413T
SNU1066_UPPER_AERODIGESTIVE_TRACT113351604113353737113351955113351955Missense_MutationCTp.H418Y
HT1197_URINARY_TRACT113351604113353737113351964113351964Missense_MutationGAp.V421I
BICR56_UPPER_AERODIGESTIVE_TRACT113351604113353737113351992113351992Missense_MutationGAp.R430K
NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113352006113352006Missense_MutationGAp.E435K
LOVO_LARGE_INTESTINE113351604113353737113352033113352033Missense_MutationCAp.L444I
DU145_PROSTATE113351604113353737113352060113352060Missense_MutationCGp.Q453E
PC9_LUNG113351604113353737113352134113352134Missense_MutationCAp.N477K
C3A_LIVER113351604113353737113352153113352153Missense_MutationGTp.A484S
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113352306113352306Missense_MutationGAp.G535R
SNU1040_LARGE_INTESTINE113351604113353737113352334113352334Missense_MutationCTp.A544V
HS944T_SKIN113351604113353737113352457113352457Missense_MutationAGp.N585S
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113352568113352568Missense_MutationCTp.S622F
MEWO_SKIN113351604113353737113352732113352732Missense_MutationCGp.H677D
IPC298_SKIN113351604113353737113352855113352855Missense_MutationCTp.R718C
TE8_OESOPHAGUS113351604113353737113352916113352916Missense_MutationTCp.V738A
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113352925113352925Missense_MutationATp.E741V
MEWO_SKIN113351604113353737113352957113352957Missense_MutationGAp.E752K
SNUC2A_LARGE_INTESTINE113351604113353737113353023113353023Missense_MutationGAp.A774T
SW48_LARGE_INTESTINE113351604113353737113353023113353023Missense_MutationGAp.A774T
HCC2998_LARGE_INTESTINE113351604113353737113353066113353066Missense_MutationAGp.E788G
DU145_PROSTATE113351604113353737113353095113353095Missense_MutationGTp.A798S
DJM1_SKIN113351604113353737113353201113353201Missense_MutationGAp.R833K
DU145_PROSTATE113351604113353737113353207113353207Missense_MutationGAp.S835N
D247MG_CENTRAL_NERVOUS_SYSTEM113351604113353737113353216113353216Missense_MutationCTp.P838L
QGP1_PANCREAS113351604113353737113353303113353303Missense_MutationAGp.N867S
HEC108_ENDOMETRIUM113351604113353737113353319113353319Missense_MutationTAp.H872Q
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113353342113353342Missense_MutationCTp.P880L
IPC298_SKIN113351604113353737113353344113353344Missense_MutationCTp.P881S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113351604113353737113353357113353357Missense_MutationCTp.A885V
MCC13_SKIN113351604113353737113353659113353659Missense_MutationGAp.G986R
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE113303554113303708113303631113303631Nonsense_MutationCTp.Q67*
JHU011_UPPER_AERODIGESTIVE_TRACT113351604113353737113351951113351952Nonsense_MutationGGTTp.416_417KE>N*
HCC2998_LARGE_INTESTINE113351604113353737113352189113352189Nonsense_MutationGTp.E496*
SISO_CERVIX113351604113353737113352693113352693Nonsense_MutationCTp.Q664*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALPK1

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 ALPK1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALPK1


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RelatedDrugs for ALPK1

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 ALPK1

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