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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ZNF644 |
Gene summary |
| Gene information | Gene symbol | ZNF644 | Gene ID | 84146 |
| Gene name | zinc finger protein 644 | |
| Synonyms | BM-005|MYP21|NatF|ZEP-2 | |
| Cytomap | 1p22.2 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 644zinc finger motif enhancer binding protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H582 | |
| Context | PubMed: ZNF644 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for ZNF644 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for ZNF644 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ZNF644 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28426 | 1 | 91383608:91383711:91438709:91438770:91447866:91447927 | 91438709:91438770 | ENSG00000122482.16 | ENST00000467231.1 |
| exon_skip_28427 | 1 | 91383608:91383711:91447866:91447927:91487546:91487571 | 91447866:91447927 | ENSG00000122482.16 | ENST00000361321.5 |
| exon_skip_28428 | 1 | 91403041:91403647:91403828:91406866:91447866:91447927 | 91403828:91406866 | ENSG00000122482.16 | ENST00000370440.1,ENST00000337393.5 |
| exon_skip_28431 | 1 | 91406505:91406866:91447866:91447927:91487546:91487571 | 91447866:91447927 | ENSG00000122482.16 | ENST00000498303.1,ENST00000337393.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF644 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28426 | 1 | 91383608:91383711:91438709:91438770:91447866:91447927 | 91438709:91438770 | ENSG00000122482.16 | ENST00000467231.1 |
| exon_skip_28428 | 1 | 91403041:91403647:91403828:91406866:91447866:91447927 | 91403828:91406866 | ENSG00000122482.16 | ENST00000370440.1,ENST00000337393.5 |
| exon_skip_28431 | 1 | 91406505:91406866:91447866:91447927:91487546:91487571 | 91447866:91447927 | ENSG00000122482.16 | ENST00000337393.5,ENST00000498303.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ZNF644 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000337393 | 91447866 | 91447927 | 3UTR-3CDS |
| ENST00000337393 | 91403828 | 91406866 | Frame-shift |
| ENST00000370440 | 91403828 | 91406866 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000337393 | 91447866 | 91447927 | 3UTR-3CDS |
| ENST00000337393 | 91403828 | 91406866 | Frame-shift |
| ENST00000370440 | 91403828 | 91406866 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ZNF644 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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 feature | Description of feature |
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 feature | Description of feature |
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SNVs in the skipped exons for ZNF644 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
ZNF644_LIHC_exon_skip_28428_psi_boxplot.png![]() |
ZNF644_LUAD_exon_skip_28428_psi_boxplot.png![]() |
ZNF644_PAAD_exon_skip_28428_psi_boxplot.png![]() |
ZNF644_SKCM_exon_skip_28428_psi_boxplot.png![]() |
ZNF644_STAD_exon_skip_28428_psi_boxplot.png![]() |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_28428 | 91403829 | 91406866 | 91404473 | 91404473 | Frame_Shift_Del | T | - | p.K813fs |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_28428 | 91403829 | 91406866 | 91404598 | 91404604 | Frame_Shift_Del | AGAATTT | - | p.L769fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_28428 | 91403829 | 91406866 | 91404622 | 91404622 | Frame_Shift_Del | T | - | p.K763fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28428 | 91403829 | 91406866 | 91404973 | 91404973 | Frame_Shift_Del | T | - | p.Q647fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28428 | 91403829 | 91406866 | 91405028 | 91405028 | Frame_Shift_Del | T | - | p.N628fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_28428 | 91403829 | 91406866 | 91405103 | 91405103 | Frame_Shift_Del | T | - | p.K603fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28428 | 91403829 | 91406866 | 91405109 | 91405109 | Frame_Shift_Del | A | - | p.L601fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28428 | 91403829 | 91406866 | 91405205 | 91405205 | Frame_Shift_Del | T | - | p.K569fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_28428 | 91403829 | 91406866 | 91405205 | 91405205 | Frame_Shift_Del | T | - | p.K569fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28428 | 91403829 | 91406866 | 91405540 | 91405540 | Frame_Shift_Del | A | - | p.F457fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_28428 | 91403829 | 91406866 | 91406038 | 91406039 | Frame_Shift_Del | TC | - | p.R291fs |
| STAD | TCGA-BR-4201-01 | exon_skip_28428 | 91403829 | 91406866 | 91406040 | 91406040 | Frame_Shift_Del | T | - | p.R291fs |
| STAD | TCGA-BR-4292-01 | exon_skip_28428 | 91403829 | 91406866 | 91406040 | 91406040 | Frame_Shift_Del | T | - | p.R291fs |
| STAD | TCGA-BR-4361-01 | exon_skip_28428 | 91403829 | 91406866 | 91406040 | 91406040 | Frame_Shift_Del | T | - | p.R291fs |
| STAD | TCGA-CG-4442-01 | exon_skip_28428 | 91403829 | 91406866 | 91406040 | 91406040 | Frame_Shift_Del | T | - | p.R291fs |
| STAD | TCGA-HU-8602-01 | exon_skip_28428 | 91403829 | 91406866 | 91406040 | 91406040 | Frame_Shift_Del | T | - | p.R291fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_28428 | 91403829 | 91406866 | 91406040 | 91406040 | Frame_Shift_Del | T | - | p.R291fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28428 | 91403829 | 91406866 | 91406219 | 91406219 | Frame_Shift_Del | A | - | p.L232fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_28428 | 91403829 | 91406866 | 91406273 | 91406273 | Frame_Shift_Del | T | - | p.K213fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28428 | 91403829 | 91406866 | 91406332 | 91406332 | Frame_Shift_Del | T | - | p.K193fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_28428 | 91403829 | 91406866 | 91406587 | 91406587 | Frame_Shift_Del | A | - | p.F108fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_28428 | 91403829 | 91406866 | 91404247 | 91404248 | Frame_Shift_Ins | - | T | p.I888fs |
| PRAD | TCGA-HI-7169-01 | exon_skip_28428 | 91403829 | 91406866 | 91406039 | 91406040 | Frame_Shift_Ins | - | T | p.K291fs |
| THYM | TCGA-XU-A92W-01 | exon_skip_28428 | 91403829 | 91406866 | 91406039 | 91406040 | Frame_Shift_Ins | - | T | p.K291fs |
| BLCA | TCGA-DK-A3X2-01 | exon_skip_28428 | 91403829 | 91406866 | 91406718 | 91406719 | Frame_Shift_Ins | - | T | p.S65fs |
| LUAD | TCGA-55-6971-01 | exon_skip_28428 | 91403829 | 91406866 | 91404020 | 91404020 | Nonsense_Mutation | G | T | p.S964* |
| READ | TCGA-AG-A002-01 | exon_skip_28428 | 91403829 | 91406866 | 91404288 | 91404288 | Nonsense_Mutation | C | A | p.E875X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_28428 | 91403829 | 91406866 | 91404618 | 91404618 | Nonsense_Mutation | C | A | p.E765* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_28428 | 91403829 | 91406866 | 91404618 | 91404618 | Nonsense_Mutation | C | A | p.E765X |
| UCEC | TCGA-AP-A056-01 | exon_skip_28428 | 91403829 | 91406866 | 91404729 | 91404729 | Nonsense_Mutation | C | A | p.E728* |
| BRCA | TCGA-BH-A0DS-01 | exon_skip_28428 | 91403829 | 91406866 | 91405737 | 91405737 | Nonsense_Mutation | C | A | p.E392* |
| SKCM | TCGA-FS-A4FC-06 | exon_skip_28428 | 91403829 | 91406866 | 91405830 | 91405830 | Nonsense_Mutation | G | A | p.Q361* |
| SKCM | TCGA-FS-A4FC-06 | exon_skip_28428 | 91403829 | 91406866 | 91405830 | 91405830 | Nonsense_Mutation | G | A | p.Q361X |
| PAAD | TCGA-IB-7651-01 | exon_skip_28428 | 91403829 | 91406866 | 91406463 | 91406463 | Nonsense_Mutation | C | A | p.E150* |
| PAAD | TCGA-IB-7651-01 | exon_skip_28428 | 91403829 | 91406866 | 91406463 | 91406463 | Nonsense_Mutation | C | A | p.E150X |
| LUAD | TCGA-55-6968-01 | exon_skip_28428 | 91403829 | 91406866 | 91406762 | 91406762 | Nonsense_Mutation | G | C | p.S50* |
- Depth of coverage in the three exons composing exon skipping event |
- Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 91403829 | 91406866 | 91404076 | 91404077 | Frame_Shift_Del | TG | - | p.S945fs |
| SNU1040_LARGE_INTESTINE | 91403829 | 91406866 | 91405205 | 91405205 | Frame_Shift_Del | T | - | p.K569fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 91403829 | 91406866 | 91404081 | 91404082 | Frame_Shift_Ins | - | GT | p.A944fs |
| SH10TC_STOMACH | 91403829 | 91406866 | 91404615 | 91404617 | In_Frame_Del | CTT | - | p.E765del |
| SNUC2A_LARGE_INTESTINE | 91403829 | 91406866 | 91406788 | 91406790 | In_Frame_Del | TTC | - | p.E41del |
| HEC59_ENDOMETRIUM | 91403829 | 91406866 | 91403865 | 91403865 | Missense_Mutation | T | C | p.T1016A |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91403927 | 91403927 | Missense_Mutation | G | A | p.A995V |
| HEC1_ENDOMETRIUM | 91403829 | 91406866 | 91404080 | 91404080 | Missense_Mutation | G | T | p.A944D |
| NCIH2023_LUNG | 91403829 | 91406866 | 91404396 | 91404396 | Missense_Mutation | C | G | p.V839L |
| OVK18_OVARY | 91403829 | 91406866 | 91404497 | 91404497 | Missense_Mutation | C | T | p.R805H |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91404531 | 91404531 | Missense_Mutation | C | T | p.A794T |
| LS411N_LARGE_INTESTINE | 91403829 | 91406866 | 91404602 | 91404602 | Missense_Mutation | T | A | p.N770I |
| CW2_LARGE_INTESTINE | 91403829 | 91406866 | 91404638 | 91404638 | Missense_Mutation | G | A | p.P758L |
| UACC893_BREAST | 91403829 | 91406866 | 91404667 | 91404667 | Missense_Mutation | C | G | p.R748S |
| CW2_LARGE_INTESTINE | 91403829 | 91406866 | 91404668 | 91404668 | Missense_Mutation | C | T | p.R748K |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91404768 | 91404768 | Missense_Mutation | C | T | p.V715I |
| HMEL_BREAST | 91403829 | 91406866 | 91404768 | 91404768 | Missense_Mutation | C | T | p.V715I |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 91403829 | 91406866 | 91404849 | 91404849 | Missense_Mutation | G | A | p.R688W |
| 639V_URINARY_TRACT | 91403829 | 91406866 | 91404863 | 91404863 | Missense_Mutation | C | T | p.R683K |
| SNUC2A_LARGE_INTESTINE | 91403829 | 91406866 | 91404923 | 91404923 | Missense_Mutation | C | T | p.R663Q |
| SNUC2B_LARGE_INTESTINE | 91403829 | 91406866 | 91404923 | 91404923 | Missense_Mutation | C | T | p.R663Q |
| JHH7_LIVER | 91403829 | 91406866 | 91404982 | 91404982 | Missense_Mutation | T | G | p.L643F |
| UOK101_KIDNEY | 91403829 | 91406866 | 91405041 | 91405041 | Missense_Mutation | C | G | p.D624H |
| SNU1040_LARGE_INTESTINE | 91403829 | 91406866 | 91405058 | 91405058 | Missense_Mutation | C | A | p.G618V |
| SN12C_KIDNEY | 91403829 | 91406866 | 91405158 | 91405158 | Missense_Mutation | T | A | p.T585S |
| SNGM_ENDOMETRIUM | 91403829 | 91406866 | 91405161 | 91405161 | Missense_Mutation | C | T | p.A584T |
| COLO829_SKIN | 91403829 | 91406866 | 91405230 | 91405230 | Missense_Mutation | T | C | p.I561V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91405592 | 91405592 | Missense_Mutation | C | T | p.R440H |
| CASKI_CERVIX | 91403829 | 91406866 | 91405629 | 91405629 | Missense_Mutation | G | A | p.H428Y |
| ME180_CERVIX | 91403829 | 91406866 | 91405691 | 91405691 | Missense_Mutation | G | A | p.P407L |
| SF767_CENTRAL_NERVOUS_SYSTEM | 91403829 | 91406866 | 91405691 | 91405691 | Missense_Mutation | G | A | p.P407L |
| KMRC2_KIDNEY | 91403829 | 91406866 | 91405761 | 91405761 | Missense_Mutation | A | G | p.S384P |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 91403829 | 91406866 | 91405812 | 91405812 | Missense_Mutation | G | T | p.P367T |
| SCH_STOMACH | 91403829 | 91406866 | 91405859 | 91405859 | Missense_Mutation | T | G | p.D351A |
| SKUT1_SOFT_TISSUE | 91403829 | 91406866 | 91405871 | 91405871 | Missense_Mutation | G | T | p.P347H |
| HT115_LARGE_INTESTINE | 91403829 | 91406866 | 91406033 | 91406033 | Missense_Mutation | C | T | p.R293Q |
| IGROV1_OVARY | 91403829 | 91406866 | 91406054 | 91406054 | Missense_Mutation | C | A | p.G286V |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91406067 | 91406067 | Missense_Mutation | G | A | p.H282Y |
| STS0421_SOFT_TISSUE | 91403829 | 91406866 | 91406150 | 91406151 | Missense_Mutation | TC | AA | p.E254L |
| PACADD188_PANCREAS | 91403829 | 91406866 | 91406153 | 91406153 | Missense_Mutation | G | A | p.S253L |
| HEC1B_ENDOMETRIUM | 91403829 | 91406866 | 91406171 | 91406171 | Missense_Mutation | C | T | p.G247D |
| NB14_AUTONOMIC_GANGLIA | 91403829 | 91406866 | 91406337 | 91406337 | Missense_Mutation | T | C | p.K192E |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91406349 | 91406349 | Missense_Mutation | T | C | p.T188A |
| CORL88_LUNG | 91403829 | 91406866 | 91406406 | 91406406 | Missense_Mutation | C | A | p.A169S |
| D423MG_CENTRAL_NERVOUS_SYSTEM | 91403829 | 91406866 | 91406556 | 91406556 | Missense_Mutation | G | C | p.P119A |
| NB14_AUTONOMIC_GANGLIA | 91403829 | 91406866 | 91406556 | 91406556 | Missense_Mutation | G | C | p.P119A |
| CORL95_LUNG | 91403829 | 91406866 | 91406655 | 91406655 | Missense_Mutation | C | T | p.A86T |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91406672 | 91406672 | Missense_Mutation | T | G | p.K80T |
| HT55_LARGE_INTESTINE | 91403829 | 91406866 | 91406680 | 91406680 | Missense_Mutation | T | A | p.E77D |
| SISO_CERVIX | 91403829 | 91406866 | 91406694 | 91406694 | Missense_Mutation | T | C | p.T73A |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91403829 | 91406866 | 91406694 | 91406694 | Missense_Mutation | T | C | p.T73A |
| HCC2218_BREAST | 91403829 | 91406866 | 91406754 | 91406754 | Missense_Mutation | C | G | p.E53Q |
| SNU886_LIVER | 91403829 | 91406866 | 91406840 | 91406840 | Missense_Mutation | T | C | p.N24S |
| EN_ENDOMETRIUM | 91403829 | 91406866 | 91404924 | 91404924 | Nonsense_Mutation | G | A | p.R663* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF644 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA 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 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ZNF644 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ZNF644 | C3279997 | MYOPIA 21, AUTOSOMAL DOMINANT | 2 | UNIPROT |