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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 ZNF644

check button Gene summary
Gene informationGene symbol

ZNF644

Gene ID

84146

Gene namezinc finger protein 644
SynonymsBM-005|MYP21|NatF|ZEP-2
Cytomap

1p22.2

Type of geneprotein-coding
Descriptionzinc finger protein 644zinc finger motif enhancer binding protein 2
Modification date20180519
UniProtAcc

Q9H582

ContextPubMed: ZNF644 [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 ZNF644 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 ZNF644

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 ZNF644

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_28426191383608:91383711:91438709:91438770:91447866:9144792791438709:91438770ENSG00000122482.16ENST00000467231.1
exon_skip_28427191383608:91383711:91447866:91447927:91487546:9148757191447866:91447927ENSG00000122482.16ENST00000361321.5
exon_skip_28428191403041:91403647:91403828:91406866:91447866:9144792791403828:91406866ENSG00000122482.16ENST00000370440.1,ENST00000337393.5
exon_skip_28431191406505:91406866:91447866:91447927:91487546:9148757191447866:91447927ENSG00000122482.16ENST00000498303.1,ENST00000337393.5

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

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Exon skipping events with PSIs in GTEx for ZNF644

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_28426191383608:91383711:91438709:91438770:91447866:9144792791438709:91438770ENSG00000122482.16ENST00000467231.1
exon_skip_28428191403041:91403647:91403828:91406866:91447866:9144792791403828:91406866ENSG00000122482.16ENST00000370440.1,ENST00000337393.5
exon_skip_28431191406505:91406866:91447866:91447927:91487546:9148757191447866:91447927ENSG00000122482.16ENST00000337393.5,ENST00000498303.1

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 ZNF644

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
ENST0000033739391447866914479273UTR-3CDS
ENST000003373939140382891406866Frame-shift
ENST000003704409140382891406866Frame-shift

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
ENST0000033739391447866914479273UTR-3CDS
ENST000003373939140382891406866Frame-shift
ENST000003704409140382891406866Frame-shift

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Infer the effects of exon skipping event on protein functional features for ZNF644

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

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

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 ZNF644

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.
ZNF644_LIHC_exon_skip_28428_psi_boxplot.png
boxplot
ZNF644_LUAD_exon_skip_28428_psi_boxplot.png
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ZNF644_PAAD_exon_skip_28428_psi_boxplot.png
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ZNF644_SKCM_exon_skip_28428_psi_boxplot.png
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ZNF644_STAD_exon_skip_28428_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
SKCMTCGA-EE-A3J5-06exon_skip_28428
91403829914068669140447391404473Frame_Shift_DelT-p.K813fs
UCECTCGA-BG-A0M4-01exon_skip_28428
91403829914068669140459891404604Frame_Shift_DelAGAATTT-p.L769fs
LIHCTCGA-DD-A1EG-01exon_skip_28428
91403829914068669140462291404622Frame_Shift_DelT-p.K763fs
LIHCTCGA-G3-A3CJ-01exon_skip_28428
91403829914068669140497391404973Frame_Shift_DelT-p.Q647fs
LIHCTCGA-DD-A39Y-01exon_skip_28428
91403829914068669140502891405028Frame_Shift_DelT-p.N628fs
LIHCTCGA-DD-A3A1-01exon_skip_28428
91403829914068669140510391405103Frame_Shift_DelT-p.K603fs
LIHCTCGA-DD-A39Y-01exon_skip_28428
91403829914068669140510991405109Frame_Shift_DelA-p.L601fs
LIHCTCGA-G3-A3CJ-01exon_skip_28428
91403829914068669140520591405205Frame_Shift_DelT-p.K569fs
UCECTCGA-BG-A0LX-01exon_skip_28428
91403829914068669140520591405205Frame_Shift_DelT-p.K569fs
LIHCTCGA-DD-A39Y-01exon_skip_28428
91403829914068669140554091405540Frame_Shift_DelA-p.F457fs
BLCATCGA-UY-A78K-01exon_skip_28428
91403829914068669140603891406039Frame_Shift_DelTC-p.R291fs
STADTCGA-BR-4201-01exon_skip_28428
91403829914068669140604091406040Frame_Shift_DelT-p.R291fs
STADTCGA-BR-4292-01exon_skip_28428
91403829914068669140604091406040Frame_Shift_DelT-p.R291fs
STADTCGA-BR-4361-01exon_skip_28428
91403829914068669140604091406040Frame_Shift_DelT-p.R291fs
STADTCGA-CG-4442-01exon_skip_28428
91403829914068669140604091406040Frame_Shift_DelT-p.R291fs
STADTCGA-HU-8602-01exon_skip_28428
91403829914068669140604091406040Frame_Shift_DelT-p.R291fs
STADTCGA-HU-A4GQ-01exon_skip_28428
91403829914068669140604091406040Frame_Shift_DelT-p.R291fs
LIHCTCGA-G3-A3CJ-01exon_skip_28428
91403829914068669140621991406219Frame_Shift_DelA-p.L232fs
LIHCTCGA-DD-A1EG-01exon_skip_28428
91403829914068669140627391406273Frame_Shift_DelT-p.K213fs
LIHCTCGA-DD-A39Y-01exon_skip_28428
91403829914068669140633291406332Frame_Shift_DelT-p.K193fs
LIHCTCGA-G3-A3CJ-01exon_skip_28428
91403829914068669140658791406587Frame_Shift_DelA-p.F108fs
LIHCTCGA-BC-A112-01exon_skip_28428
91403829914068669140424791404248Frame_Shift_Ins-Tp.I888fs
PRADTCGA-HI-7169-01exon_skip_28428
91403829914068669140603991406040Frame_Shift_Ins-Tp.K291fs
THYMTCGA-XU-A92W-01exon_skip_28428
91403829914068669140603991406040Frame_Shift_Ins-Tp.K291fs
BLCATCGA-DK-A3X2-01exon_skip_28428
91403829914068669140671891406719Frame_Shift_Ins-Tp.S65fs
LUADTCGA-55-6971-01exon_skip_28428
91403829914068669140402091404020Nonsense_MutationGTp.S964*
READTCGA-AG-A002-01exon_skip_28428
91403829914068669140428891404288Nonsense_MutationCAp.E875X
UCSTCGA-ND-A4WC-01exon_skip_28428
91403829914068669140461891404618Nonsense_MutationCAp.E765*
UCSTCGA-ND-A4WC-01exon_skip_28428
91403829914068669140461891404618Nonsense_MutationCAp.E765X
UCECTCGA-AP-A056-01exon_skip_28428
91403829914068669140472991404729Nonsense_MutationCAp.E728*
BRCATCGA-BH-A0DS-01exon_skip_28428
91403829914068669140573791405737Nonsense_MutationCAp.E392*
SKCMTCGA-FS-A4FC-06exon_skip_28428
91403829914068669140583091405830Nonsense_MutationGAp.Q361*
SKCMTCGA-FS-A4FC-06exon_skip_28428
91403829914068669140583091405830Nonsense_MutationGAp.Q361X
PAADTCGA-IB-7651-01exon_skip_28428
91403829914068669140646391406463Nonsense_MutationCAp.E150*
PAADTCGA-IB-7651-01exon_skip_28428
91403829914068669140646391406463Nonsense_MutationCAp.E150X
LUADTCGA-55-6968-01exon_skip_28428
91403829914068669140676291406762Nonsense_MutationGCp.S50*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ZNF644_91403041_91403647_91403828_91406866_91447866_91447927_TCGA-55-6968-01Sample: TCGA-55-6968-01
Cancer type: LUAD
ESID: exon_skip_28428
Skipped exon start: 91403829
Skipped exon end: 91406866
Mutation start: 91406762
Mutation end: 91406762
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: C
AAchange: p.S50*
exon_skip_28428_LUAD_TCGA-55-6968-01.png
boxplot
exon_skip_354396_LUAD_TCGA-55-6968-01.png
boxplot
ZNF644_91403041_91403647_91403828_91406866_91447866_91447927_TCGA-FS-A4FC-06Sample: TCGA-FS-A4FC-06
Cancer type: SKCM
ESID: exon_skip_28428
Skipped exon start: 91403829
Skipped exon end: 91406866
Mutation start: 91405830
Mutation end: 91405830
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q361X
ZNF644_91403041_91403647_91403828_91406866_91447866_91447927_TCGA-FS-A4FC-06Sample: TCGA-FS-A4FC-06
Cancer type: SKCM
ESID: exon_skip_28428
Skipped exon start: 91403829
Skipped exon end: 91406866
Mutation start: 91405830
Mutation end: 91405830
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q361*
exon_skip_28428_SKCM_TCGA-FS-A4FC-06.png
boxplot
exon_skip_376815_SKCM_TCGA-FS-A4FC-06.png
boxplot
exon_skip_436615_SKCM_TCGA-FS-A4FC-06.png
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exon_skip_436616_SKCM_TCGA-FS-A4FC-06.png
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exon_skip_436617_SKCM_TCGA-FS-A4FC-06.png
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exon_skip_436618_SKCM_TCGA-FS-A4FC-06.png
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exon_skip_436619_SKCM_TCGA-FS-A4FC-06.png
boxplot
ZNF644_91403041_91403647_91403828_91406866_91447866_91447927_TCGA-EE-A3J5-06Sample: TCGA-EE-A3J5-06
Cancer type: SKCM
ESID: exon_skip_28428
Skipped exon start: 91403829
Skipped exon end: 91406866
Mutation start: 91404473
Mutation end: 91404473
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K813fs
exon_skip_28428_SKCM_TCGA-EE-A3J5-06.png
boxplot
exon_skip_287825_SKCM_TCGA-EE-A3J5-06.png
boxplot
exon_skip_287829_SKCM_TCGA-EE-A3J5-06.png
boxplot
exon_skip_61147_SKCM_TCGA-EE-A3J5-06.png
boxplot
ZNF644_91403041_91403647_91403828_91406866_91447866_91447927_TCGA-HU-A4GQ-01Sample: TCGA-HU-A4GQ-01
Cancer type: STAD
ESID: exon_skip_28428
Skipped exon start: 91403829
Skipped exon end: 91406866
Mutation start: 91406040
Mutation end: 91406040
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.R291fs
exon_skip_102588_STAD_TCGA-HU-A4GQ-01.png
boxplot
exon_skip_137953_STAD_TCGA-HU-A4GQ-01.png
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exon_skip_28428_STAD_TCGA-HU-A4GQ-01.png
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exon_skip_298309_STAD_TCGA-HU-A4GQ-01.png
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exon_skip_299452_STAD_TCGA-HU-A4GQ-01.png
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exon_skip_3339_STAD_TCGA-HU-A4GQ-01.png
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exon_skip_454598_STAD_TCGA-HU-A4GQ-01.png
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exon_skip_473424_STAD_TCGA-HU-A4GQ-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
BICR18_UPPER_AERODIGESTIVE_TRACT91403829914068669140407691404077Frame_Shift_DelTG-p.S945fs
SNU1040_LARGE_INTESTINE91403829914068669140520591405205Frame_Shift_DelT-p.K569fs
BICR18_UPPER_AERODIGESTIVE_TRACT91403829914068669140408191404082Frame_Shift_Ins-GTp.A944fs
SH10TC_STOMACH91403829914068669140461591404617In_Frame_DelCTT-p.E765del
SNUC2A_LARGE_INTESTINE91403829914068669140678891406790In_Frame_DelTTC-p.E41del
HEC59_ENDOMETRIUM91403829914068669140386591403865Missense_MutationTCp.T1016A
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140392791403927Missense_MutationGAp.A995V
HEC1_ENDOMETRIUM91403829914068669140408091404080Missense_MutationGTp.A944D
NCIH2023_LUNG91403829914068669140439691404396Missense_MutationCGp.V839L
OVK18_OVARY91403829914068669140449791404497Missense_MutationCTp.R805H
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140453191404531Missense_MutationCTp.A794T
LS411N_LARGE_INTESTINE91403829914068669140460291404602Missense_MutationTAp.N770I
CW2_LARGE_INTESTINE91403829914068669140463891404638Missense_MutationGAp.P758L
UACC893_BREAST91403829914068669140466791404667Missense_MutationCGp.R748S
CW2_LARGE_INTESTINE91403829914068669140466891404668Missense_MutationCTp.R748K
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140476891404768Missense_MutationCTp.V715I
HMEL_BREAST91403829914068669140476891404768Missense_MutationCTp.V715I
DIPG007_CENTRAL_NERVOUS_SYSTEM91403829914068669140484991404849Missense_MutationGAp.R688W
639V_URINARY_TRACT91403829914068669140486391404863Missense_MutationCTp.R683K
SNUC2A_LARGE_INTESTINE91403829914068669140492391404923Missense_MutationCTp.R663Q
SNUC2B_LARGE_INTESTINE91403829914068669140492391404923Missense_MutationCTp.R663Q
JHH7_LIVER91403829914068669140498291404982Missense_MutationTGp.L643F
UOK101_KIDNEY91403829914068669140504191405041Missense_MutationCGp.D624H
SNU1040_LARGE_INTESTINE91403829914068669140505891405058Missense_MutationCAp.G618V
SN12C_KIDNEY91403829914068669140515891405158Missense_MutationTAp.T585S
SNGM_ENDOMETRIUM91403829914068669140516191405161Missense_MutationCTp.A584T
COLO829_SKIN91403829914068669140523091405230Missense_MutationTCp.I561V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140559291405592Missense_MutationCTp.R440H
CASKI_CERVIX91403829914068669140562991405629Missense_MutationGAp.H428Y
ME180_CERVIX91403829914068669140569191405691Missense_MutationGAp.P407L
SF767_CENTRAL_NERVOUS_SYSTEM91403829914068669140569191405691Missense_MutationGAp.P407L
KMRC2_KIDNEY91403829914068669140576191405761Missense_MutationAGp.S384P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM91403829914068669140581291405812Missense_MutationGTp.P367T
SCH_STOMACH91403829914068669140585991405859Missense_MutationTGp.D351A
SKUT1_SOFT_TISSUE91403829914068669140587191405871Missense_MutationGTp.P347H
HT115_LARGE_INTESTINE91403829914068669140603391406033Missense_MutationCTp.R293Q
IGROV1_OVARY91403829914068669140605491406054Missense_MutationCAp.G286V
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140606791406067Missense_MutationGAp.H282Y
STS0421_SOFT_TISSUE91403829914068669140615091406151Missense_MutationTCAAp.E254L
PACADD188_PANCREAS91403829914068669140615391406153Missense_MutationGAp.S253L
HEC1B_ENDOMETRIUM91403829914068669140617191406171Missense_MutationCTp.G247D
NB14_AUTONOMIC_GANGLIA91403829914068669140633791406337Missense_MutationTCp.K192E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140634991406349Missense_MutationTCp.T188A
CORL88_LUNG91403829914068669140640691406406Missense_MutationCAp.A169S
D423MG_CENTRAL_NERVOUS_SYSTEM91403829914068669140655691406556Missense_MutationGCp.P119A
NB14_AUTONOMIC_GANGLIA91403829914068669140655691406556Missense_MutationGCp.P119A
CORL95_LUNG91403829914068669140665591406655Missense_MutationCTp.A86T
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140667291406672Missense_MutationTGp.K80T
HT55_LARGE_INTESTINE91403829914068669140668091406680Missense_MutationTAp.E77D
SISO_CERVIX91403829914068669140669491406694Missense_MutationTCp.T73A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE91403829914068669140669491406694Missense_MutationTCp.T73A
HCC2218_BREAST91403829914068669140675491406754Missense_MutationCGp.E53Q
SNU886_LIVER91403829914068669140684091406840Missense_MutationTCp.N24S
EN_ENDOMETRIUM91403829914068669140492491404924Nonsense_MutationGAp.R663*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF644

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 ZNF644


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF644


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RelatedDrugs for ZNF644

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 ZNF644

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ZNF644C3279997MYOPIA 21, AUTOSOMAL DOMINANT2UNIPROT