|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for KCMF1 |
 Gene summary |
| Gene information | Gene symbol | KCMF1 | Gene ID | 56888 |
| Gene name | potassium channel modulatory factor 1 | |
| Synonyms | DEBT91|FIGC|PCMF|ZZZ1 | |
| Cytomap | 2p11.2 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase KCMF1FGF-induced in gastric cancerFGF-induced ubiquitin-protein ligase in gastric cancersRING-type E3 ubiquitin transferase KCMF1ZZ-type zinc finger-containing protein 1differentially expressed in branching tubulogenesis 9 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9P0J7 | |
| Context | PubMed: KCMF1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for KCMF1 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. |
 |
Top |
Gene isoform structures and expression levels for KCMF1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for KCMF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327080 | 2 | 85198215:85198590:85255011:85255179:85262138:85262248 | 85255011:85255179 | ENSG00000176407.13 | ENST00000409785.4 |
| exon_skip_327089 | 2 | 85273226:85273401:85276488:85276771:85280270:85286595 | 85276488:85276771 | ENSG00000176407.13 | ENST00000409785.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for KCMF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327080 | 2 | 85198215:85198590:85255011:85255179:85262138:85262248 | 85255011:85255179 | ENSG00000176407.13 | ENST00000409785.4 |
| exon_skip_327089 | 2 | 85273226:85273401:85276488:85276771:85280270:85286595 | 85276488:85276771 | ENSG00000176407.13 | ENST00000409785.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for KCMF1 |
| 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 |
| ENST00000409785 | 85276488 | 85276771 | Frame-shift |
| ENST00000409785 | 85255011 | 85255179 | In-frame |
| 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 |
| ENST00000409785 | 85276488 | 85276771 | Frame-shift |
| ENST00000409785 | 85255011 | 85255179 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for KCMF1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000409785 | 7585 | 381 | 85255011 | 85255179 | 376 | 543 | 5 | 61 |
| 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 |
| ENST00000409785 | 7585 | 381 | 85255011 | 85255179 | 376 | 543 | 5 | 61 |
| 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 |
| Q9P0J7 | 5 | 61 | 2 | 381 | Chain | ID=PRO_0000349219;Note=E3 ubiquitin-protein ligase KCMF1 |
| Q9P0J7 | 5 | 61 | 3 | 50 | Zinc finger | Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00228 |
| 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 |
| Q9P0J7 | 5 | 61 | 2 | 381 | Chain | ID=PRO_0000349219;Note=E3 ubiquitin-protein ligase KCMF1 |
| Q9P0J7 | 5 | 61 | 3 | 50 | Zinc finger | Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00228 |
Top |
SNVs in the skipped exons for KCMF1 |
| - 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. |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_327080 | 85255012 | 85255179 | 85255043 | 85255043 | Frame_Shift_Del | T | - | p.N16fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_327080 | 85255012 | 85255179 | 85255047 | 85255047 | Nonsense_Mutation | C | T | p.R18* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_327080 | 85255012 | 85255179 | 85255047 | 85255047 | Nonsense_Mutation | C | T | p.R18* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_327080 | 85255012 | 85255179 | 85255047 | 85255047 | Nonsense_Mutation | C | T | p.R18X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH650_LUNG | 85255012 | 85255179 | 85255050 | 85255050 | Missense_Mutation | G | A | p.G19S |
| HEC108_ENDOMETRIUM | 85255012 | 85255179 | 85255078 | 85255078 | Missense_Mutation | A | G | p.Y28C |
| C2BBE1_LARGE_INTESTINE | 85255012 | 85255179 | 85255122 | 85255122 | Missense_Mutation | A | G | p.T43A |
| CACO2_LARGE_INTESTINE | 85255012 | 85255179 | 85255122 | 85255122 | Missense_Mutation | A | G | p.T43A |
| SW1990_PANCREAS | 85255012 | 85255179 | 85255156 | 85255156 | Missense_Mutation | G | A | p.C54Y |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85276489 | 85276771 | 85276564 | 85276564 | Missense_Mutation | A | G | p.Q226R |
| SW48_LARGE_INTESTINE | 85276489 | 85276771 | 85276581 | 85276581 | Missense_Mutation | A | C | p.M232L |
| SNU407_LARGE_INTESTINE | 85276489 | 85276771 | 85276636 | 85276636 | Missense_Mutation | C | T | p.T250I |
| GP2D_LARGE_INTESTINE | 85276489 | 85276771 | 85276638 | 85276638 | Missense_Mutation | G | A | p.A251T |
| GP5D_LARGE_INTESTINE | 85276489 | 85276771 | 85276638 | 85276638 | Missense_Mutation | G | A | p.A251T |
| SNU1040_LARGE_INTESTINE | 85276489 | 85276771 | 85276642 | 85276642 | Missense_Mutation | G | A | p.R252H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85276489 | 85276771 | 85276654 | 85276654 | Missense_Mutation | G | A | p.R256Q |
| HCC2218_BREAST | 85276489 | 85276771 | 85276671 | 85276671 | Missense_Mutation | A | G | p.S262G |
| HCC2218_MATCHED_NORMAL_TISSUE | 85276489 | 85276771 | 85276671 | 85276671 | Missense_Mutation | A | G | p.S262G |
| NCIBL209_MATCHED_NORMAL_TISSUE | 85276489 | 85276771 | 85276671 | 85276671 | Missense_Mutation | A | G | p.S262G |
| SNU475_LIVER | 85276489 | 85276771 | 85276680 | 85276680 | Missense_Mutation | A | G | p.T265A |
| HCC2998_LARGE_INTESTINE | 85276489 | 85276771 | 85276750 | 85276750 | Missense_Mutation | A | C | p.N288T |
| JHUEM7_ENDOMETRIUM | 85255012 | 85255179 | 85255047 | 85255047 | Nonsense_Mutation | C | T | p.R18* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCMF1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCMF1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCMF1 |
Top |
RelatedDrugs for KCMF1 |
| 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 |
Top |
RelatedDiseases for KCMF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|