ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for KIAA0556

check button Gene summary
Gene informationGene symbol

KIAA0556

Gene ID

23247

Gene nameKIAA0556
SynonymsJBTS26
Cytomap

16p12.1

Type of geneprotein-coding
Descriptionprotein KIAA0556Katanin-interacting proteinKatnip
Modification date20180519
UniProtAcc

O60303

ContextPubMed: KIAA0556 [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

Top

Exon skipping events across known transcript of Ensembl for KIAA0556 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

Top

Gene isoform structures and expression levels for KIAA0556

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for KIAA0556

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1350001627561472:27561498:27585221:27585277:27629745:2762982227585221:27585277ENSG00000047578.8ENST00000261588.4
exon_skip_1350051627585242:27585277:27629745:27629822:27639981:2764015127629745:27629822ENSG00000047578.8ENST00000568258.1,ENST00000261588.4
exon_skip_1350071627639981:27640151:27642385:27642483:27659924:2766005627642385:27642483ENSG00000047578.8ENST00000564749.1,ENST00000568258.1,ENST00000565672.1,ENST00000261588.4
exon_skip_1350081627642385:27642483:27659924:27660056:27665928:2766601927659924:27660056ENSG00000047578.8ENST00000564749.1,ENST00000568258.1,ENST00000565672.1
exon_skip_1350091627642385:27642483:27659924:27660056:27689049:2768913927659924:27660056ENSG00000047578.8ENST00000261588.4
exon_skip_1350111627659924:27660056:27665928:27666057:27689049:2768913927665928:27666057ENSG00000047578.8ENST00000568258.1,ENST00000567894.1,ENST00000565672.1
exon_skip_1350141627709648:27709821:27710854:27710920:27712909:2771301627710854:27710920ENSG00000047578.8ENST00000567894.1,ENST00000261588.4
exon_skip_1350161627709648:27709821:27712909:27713016:27715216:2771527527712909:27713016ENSG00000047578.8ENST00000573850.1
exon_skip_1350171627710854:27710920:27712909:27713016:27715216:2771527527712909:27713016ENSG00000047578.8ENST00000567894.1,ENST00000261588.4
exon_skip_1350181627715216:27715319:27720025:27720241:27732878:2773301627720025:27720241ENSG00000047578.8ENST00000567894.1,ENST00000261588.4
exon_skip_1350201627715216:27715319:27720034:27720241:27732878:2773301627720034:27720241ENSG00000047578.8ENST00000573850.1
exon_skip_1350221627732878:27733016:27751361:27752241:27760904:2776162727751361:27752241ENSG00000047578.8ENST00000261588.4
exon_skip_1350241627751361:27752241:27760904:27761627:27763039:2776324527760904:27761627ENSG00000047578.8ENST00000261588.4
exon_skip_1350271627763039:27763245:27765493:27765572:27772733:2777291127765493:27765572ENSG00000047578.8ENST00000261588.4
exon_skip_1350311627788248:27788350:27788930:27789091:27789201:2778929027788930:27789091ENSG00000047578.8ENST00000568622.1,ENST00000261588.4

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

Top

Exon skipping events with PSIs in GTEx for KIAA0556

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1350001627561472:27561498:27585221:27585277:27629745:2762982227585221:27585277ENSG00000047578.8ENST00000261588.4
exon_skip_1350051627585242:27585277:27629745:27629822:27639981:2764015127629745:27629822ENSG00000047578.8ENST00000261588.4,ENST00000568258.1
exon_skip_1350071627639981:27640151:27642385:27642483:27659924:2766005627642385:27642483ENSG00000047578.8ENST00000261588.4,ENST00000568258.1,ENST00000565672.1,ENST00000564749.1
exon_skip_1350081627642385:27642483:27659924:27660056:27665928:2766601927659924:27660056ENSG00000047578.8ENST00000568258.1,ENST00000565672.1,ENST00000564749.1
exon_skip_1350091627642385:27642483:27659924:27660056:27689049:2768913927659924:27660056ENSG00000047578.8ENST00000261588.4
exon_skip_1350111627659924:27660056:27665928:27666057:27689049:2768913927665928:27666057ENSG00000047578.8ENST00000568258.1,ENST00000565672.1,ENST00000567894.1
exon_skip_1350141627709648:27709821:27710854:27710920:27712909:2771301627710854:27710920ENSG00000047578.8ENST00000261588.4,ENST00000567894.1
exon_skip_1350161627709648:27709821:27712909:27713016:27715216:2771527527712909:27713016ENSG00000047578.8ENST00000573850.1
exon_skip_1350171627710854:27710920:27712909:27713016:27715216:2771527527712909:27713016ENSG00000047578.8ENST00000261588.4,ENST00000567894.1
exon_skip_1350181627715216:27715319:27720025:27720241:27732878:2773301627720025:27720241ENSG00000047578.8ENST00000261588.4,ENST00000567894.1
exon_skip_1350201627715216:27715319:27720034:27720241:27732878:2773301627720034:27720241ENSG00000047578.8ENST00000573850.1
exon_skip_1350221627732878:27733016:27751361:27752241:27760904:2776162727751361:27752241ENSG00000047578.8ENST00000261588.4
exon_skip_1350241627751361:27752241:27760904:27761627:27763039:2776324527760904:27761627ENSG00000047578.8ENST00000261588.4
exon_skip_1350271627763039:27763245:27765493:27765572:27772733:2777291127765493:27765572ENSG00000047578.8ENST00000261588.4
exon_skip_1350311627788248:27788350:27788930:27789091:27789201:2778929027788930:27789091ENSG00000047578.8ENST00000261588.4,ENST00000568622.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for KIAA0556

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
ENST000002615882758522127585277Frame-shift
ENST000002615882762974527629822Frame-shift
ENST000002615882764238527642483Frame-shift
ENST000002615882771290927713016Frame-shift
ENST000002615882775136127752241Frame-shift
ENST000002615882776549327765572Frame-shift
ENST000002615882778893027789091Frame-shift
ENST000002615882765992427660056In-frame
ENST000002615882771085427710920In-frame
ENST000002615882772002527720241In-frame
ENST000002615882776090427761627In-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
ENST000002615882758522127585277Frame-shift
ENST000002615882762974527629822Frame-shift
ENST000002615882764238527642483Frame-shift
ENST000002615882771290927713016Frame-shift
ENST000002615882775136127752241Frame-shift
ENST000002615882776549327765572Frame-shift
ENST000002615882778893027789091Frame-shift
ENST000002615882765992427660056In-frame
ENST000002615882771085427710920In-frame
ENST000002615882772002527720241In-frame
ENST000002615882776090427761627In-frame

Top

Infer the effects of exon skipping event on protein functional features for KIAA0556

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
ENST00000261588663316182765992427660056428559136180
ENST0000026158866331618277108542771092011331198371393
ENST0000026158866331618277200252772024114091624463535
ENST00000261588663316182776090427761627264333658741115

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
ENST00000261588663316182765992427660056428559136180
ENST0000026158866331618277108542771092011331198371393
ENST0000026158866331618277200252772024114091624463535
ENST00000261588663316182776090427761627264333658741115

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
O6030313618011618ChainID=PRO_0000313090;Note=Protein KIAA0556
O6030337139311618ChainID=PRO_0000313090;Note=Protein KIAA0556
O6030346353511618ChainID=PRO_0000313090;Note=Protein KIAA0556
O60303463535522522Natural variantID=VAR_037654;Note=T->M;Dbxref=dbSNP:rs12930355
O60303463535535535Natural variantID=VAR_037655;Note=A->S;Dbxref=dbSNP:rs11643103
O60303874111511618ChainID=PRO_0000313090;Note=Protein KIAA0556
O603038741115885885Natural variantID=VAR_037656;Note=R->Q;Dbxref=dbSNP:rs16976970


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
O6030313618011618ChainID=PRO_0000313090;Note=Protein KIAA0556
O6030337139311618ChainID=PRO_0000313090;Note=Protein KIAA0556
O6030346353511618ChainID=PRO_0000313090;Note=Protein KIAA0556
O60303463535522522Natural variantID=VAR_037654;Note=T->M;Dbxref=dbSNP:rs12930355
O60303463535535535Natural variantID=VAR_037655;Note=A->S;Dbxref=dbSNP:rs11643103
O60303874111511618ChainID=PRO_0000313090;Note=Protein KIAA0556
O603038741115885885Natural variantID=VAR_037656;Note=R->Q;Dbxref=dbSNP:rs16976970


Top

SNVs in the skipped exons for KIAA0556

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
UVMTCGA-VD-A8KH-01exon_skip_135007
27642386276424832764248027642480Frame_Shift_DelC-p.H135fs
LIHCTCGA-DD-A1EG-01exon_skip_135008
exon_skip_135009
27659925276600562766000927660009Frame_Shift_DelG-p.G165fs
LIHCTCGA-DD-A3A0-01exon_skip_135014
27710855277109202771087527710875Frame_Shift_DelA-p.A378fs
LIHCTCGA-DD-A3A0-01exon_skip_135020
exon_skip_135018
27720026277202412772005627720056Frame_Shift_DelA-p.K474fs
LIHCTCGA-DD-A3A0-01exon_skip_135020
exon_skip_135018
27720035277202412772005627720056Frame_Shift_DelA-p.K474fs
LIHCTCGA-G3-A3CJ-01exon_skip_135022
27751362277522412775139327751393Frame_Shift_DelT-p.L592fs
LIHCTCGA-G3-A3CJ-01exon_skip_135022
27751362277522412775145027751450Frame_Shift_DelC-p.A611fs
STADTCGA-CG-5723-01exon_skip_135022
27751362277522412775180827751809Frame_Shift_DelCT-p.730_730del
STADTCGA-CG-5723-01exon_skip_135022
27751362277522412775180827751809Frame_Shift_DelCT-p.P730fs
SKCMTCGA-EE-A3AH-06exon_skip_135022
27751362277522412775186327751863Frame_Shift_DelG-p.G749fs
SKCMTCGA-EE-A3AH-06exon_skip_135022
27751362277522412775186327751863Frame_Shift_DelG-p.P748fs
LIHCTCGA-G3-A3CJ-01exon_skip_135024
27760905277616272776098627760986Frame_Shift_DelC-p.S902fs
COADTCGA-G4-6586-01exon_skip_135024
27760905277616272776101327761013Frame_Shift_DelG-p.R911fs
STADTCGA-BR-A4QL-01exon_skip_135024
27760905277616272776116827761168Frame_Shift_DelG-p.A962fs
STADTCGA-BR-A4QL-01exon_skip_135024
27760905277616272776116827761168Frame_Shift_DelG-p.G963fs
LIHCTCGA-BC-A3KG-01exon_skip_135024
27760905277616272776123527761235Frame_Shift_DelG-p.W985fs
STADTCGA-BR-4257-01exon_skip_135024
27760905277616272776123527761235Frame_Shift_DelG-p.W985fs
LIHCTCGA-DD-A3A0-01exon_skip_135024
27760905277616272776136227761362Frame_Shift_DelC-p.D1027fs
COADTCGA-AA-3663-01exon_skip_135022
27751362277522412775168227751683Frame_Shift_Ins-Ap.R688fs
UCECTCGA-D1-A0ZR-01exon_skip_135000
27585222275852772758523327585233Nonsense_MutationCTp.R7*
STADTCGA-BR-4201-01exon_skip_135000
27585222275852772758525227585252Nonsense_MutationGAp.W13*
STADTCGA-BR-4201-01exon_skip_135000
27585222275852772758525227585252Nonsense_MutationGAp.W13X
PRADTCGA-G9-6384-01exon_skip_135000
27585222275852772758527527585275Nonsense_MutationGTp.E21*
PRADTCGA-G9-6384-01exon_skip_135000
27585222275852772758527527585275Nonsense_MutationGTp.E21X
LUADTCGA-86-8073-01exon_skip_135022
27751362277522412775143727751437Nonsense_MutationGTp.G607*
HNSCTCGA-DQ-5629-01exon_skip_135022
27751362277522412775218827752188Nonsense_MutationCGp.S857*
COADTCGA-A6-5665-01exon_skip_135024
27760905277616272776154027761540Nonsense_MutationCTp.R1087X
LUADTCGA-49-4488-01exon_skip_135000
27585222275852772758527827585278Splice_SiteGTp.E21_splice
HNSCTCGA-CV-7418-01exon_skip_135027
27765494277655722776549327765493Splice_SiteGAp.I1185_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
SISO_CERVIX27760905277616272776109627761096Frame_Shift_DelC-p.P940fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27760905277616272776109627761096Frame_Shift_DelC-p.P940fs
SHP77_LUNG27585222275852772758523627585236Missense_MutationAGp.K8E
MDAMB175VII_BREAST27585222275852772758524027585240Missense_MutationCAp.A9D
SARC9371_BONE27585222275852772758525827585258Missense_MutationGTp.C15F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27629746276298222762975227629753Missense_MutationGCAGp.A24S
SKN3_UPPER_AERODIGESTIVE_TRACT27629746276298222762981127629811Missense_MutationGTp.Q43H
NCIH2023_LUNG27642386276424832764244327642443Missense_MutationGTp.R123L
D245MG_CENTRAL_NERVOUS_SYSTEM27659925276600562765993527659935Missense_MutationACp.Q140P
GP2D_LARGE_INTESTINE27659925276600562765999427659994Missense_MutationGAp.D160N
MALME3M_SKIN27751362277522412775136527751365Missense_MutationCGp.L583V
MZ7MEL_SKIN27751362277522412775144027751440Missense_MutationGAp.D608N
CAL12T_LUNG27751362277522412775146127751461Missense_MutationCTp.H615Y
NCIH510_LUNG27751362277522412775146427751464Missense_MutationATp.S616C
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27751362277522412775146827751468Missense_MutationTGp.I617S
CP67MEL_SKIN27751362277522412775163327751633Missense_MutationCTp.S672F
KYSE140_OESOPHAGUS27751362277522412775173827751738Missense_MutationCTp.S707L
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27751362277522412775177627751776Missense_MutationCTp.P720S
NCIH2172_LUNG27751362277522412775179827751798Missense_MutationAGp.H727R
MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27751362277522412775183927751839Missense_MutationGAp.G741S
COLO668_LUNG27751362277522412775188727751887Missense_MutationCAp.P757T
NCIH513_PLEURA27751362277522412775199227751992Missense_MutationGAp.D792N
SNU1_STOMACH27751362277522412775205627752056Missense_MutationGTp.G813V
TE5_OESOPHAGUS27751362277522412775221427752214Missense_MutationCTp.H866Y
CW2_LARGE_INTESTINE27760905277616272776091127760911Missense_MutationCTp.T877I
HUTU80_SMALL_INTESTINE27760905277616272776093427760934Missense_MutationCGp.R885G
NCIH1618_LUNG27760905277616272776101127761011Missense_MutationCGp.H910Q
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27760905277616272776101927761019Missense_MutationGAp.R913H
SNU1040_LARGE_INTESTINE27760905277616272776103627761036Missense_MutationCTp.L919F
DMS454_LUNG27760905277616272776110627761106Missense_MutationAGp.K942R
DMS454_LUNG27760905277616272776112027761120Missense_MutationCAp.P947T
C80_LARGE_INTESTINE27760905277616272776120827761208Missense_MutationGAp.R976H
IM95_STOMACH27760905277616272776123427761234Missense_MutationTCp.W985R
CME1_SOFT_TISSUE27760905277616272776134527761345Missense_MutationCAp.P1022T
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27760905277616272776138727761387Missense_MutationGAp.D1036N
SNU1040_LARGE_INTESTINE27760905277616272776141227761412Missense_MutationAGp.D1044G
SF172_CENTRAL_NERVOUS_SYSTEM27760905277616272776142027761420Missense_MutationGAp.V1047I
NCIH1573_LUNG27760905277616272776143727761437Missense_MutationCAp.F1052L
OVK18_OVARY27760905277616272776143927761439Missense_MutationCTp.T1053M
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27760905277616272776143927761439Missense_MutationCTp.T1053M
HN_UPPER_AERODIGESTIVE_TRACT27760905277616272776143927761439Missense_MutationCTp.T1053M
HT115_LARGE_INTESTINE27760905277616272776146927761469Missense_MutationAGp.D1063G
CW2_LARGE_INTESTINE27760905277616272776151727761517Missense_MutationAGp.N1079S
HCC1187_BREAST27760905277616272776154127761541Missense_MutationGAp.R1087Q
HCC1187_MATCHED_NORMAL_TISSUE27760905277616272776154127761541Missense_MutationGAp.R1087Q
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM27760905277616272776161327761613Missense_MutationGAp.G1111E
LNZ308_CENTRAL_NERVOUS_SYSTEM27760905277616272776161327761613Missense_MutationGAp.G1111E
MM386_SKIN27765494277655722776551327765513Missense_MutationCTp.P1191L
HEC108_ENDOMETRIUM27765494277655722776553627765536Missense_MutationGTp.V1199F
C33A_CERVIX27765494277655722776556627765566Missense_MutationGAp.G1209R
HS746T_STOMACH27788931277890912778894327788943Missense_MutationGTp.D1522Y
SISO_CERVIX27788931277890912778901827789018Missense_MutationAGp.T1547A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27788931277890912778901827789018Missense_MutationAGp.T1547A
HS936T_SKIN27788931277890912778901927789019Missense_MutationCAp.T1547N
NB7_AUTONOMIC_GANGLIA27788931277890912778906427789064Missense_MutationGAp.R1562H
HS839T_FIBROBLAST27585222275852772758523327585233Nonsense_MutationCTp.R7*
HT115_LARGE_INTESTINE27642386276424832764240927642409Nonsense_MutationCTp.R112*
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27751362277522412775164127751641Nonsense_MutationGTp.G675*
HCC1833_LUNG27629746276298222762982227629822Splice_SiteGTp.R47L
SNU520_STOMACH27720035277202412772002727720030Splice_SiteACAA-p.DK464fs
SNU520_STOMACH27720026277202412772002727720030Splice_SiteACAA-p.DK464fs

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA0556

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0556


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0556


Top

RelatedDrugs for KIAA0556

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

Top

RelatedDiseases for KIAA0556

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