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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 CLMN |
 Gene summary |
| Gene information | Gene symbol | CLMN | Gene ID | 79789 |
| Gene name | calmin | |
| Synonyms | - | |
| Cytomap | 14q32.13 | |
| Type of gene | protein-coding | |
| Description | calmincalmin (calponin-like, transmembrane)calponin-like transmembrane domain protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q96JQ2 | |
| Context | PubMed: CLMN [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 CLMN 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 CLMN |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CLMN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENSG00000165959.7 | ENST00000298912.4 |
| exon_skip_115626 | 14 | 95660872:95660933:95662834:95663031:95669174:95670800 | 95662834:95663031 | ENSG00000165959.7 | ENST00000556454.1,ENST00000298912.4 |
| exon_skip_115627 | 14 | 95662834:95663031:95669174:95670800:95675731:95675814 | 95669174:95670800 | ENSG00000165959.7 | ENST00000556454.1,ENST00000298912.4 |
| exon_skip_115630 | 14 | 95677022:95677216:95679555:95679746:95681977:95682070 | 95679555:95679746 | ENSG00000165959.7 | ENST00000298912.4 |
| exon_skip_115633 | 14 | 95679656:95679746:95681977:95682070:95688027:95688111 | 95681977:95682070 | ENSG00000165959.7 | ENST00000555336.2,ENST00000555615.1,ENST00000298912.4 |
| exon_skip_115634 | 14 | 95688069:95688111:95688739:95688936:95690096:95690192 | 95688739:95688936 | ENSG00000165959.7 | ENST00000553733.1 |
| exon_skip_115636 | 14 | 95688069:95688111:95690096:95690192:95696408:95696470 | 95690096:95690192 | ENSG00000165959.7 | ENST00000555336.2,ENST00000555615.1,ENST00000298912.4 |
| exon_skip_115639 | 14 | 95690096:95690192:95696408:95696470:95786047:95786215 | 95696408:95696470 | ENSG00000165959.7 | ENST00000553733.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CLMN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENSG00000165959.7 | ENST00000298912.4 |
| exon_skip_115626 | 14 | 95660872:95660933:95662834:95663031:95669174:95670800 | 95662834:95663031 | ENSG00000165959.7 | ENST00000298912.4,ENST00000556454.1 |
| exon_skip_115627 | 14 | 95662834:95663031:95669174:95670800:95675731:95675814 | 95669174:95670800 | ENSG00000165959.7 | ENST00000298912.4,ENST00000556454.1 |
| exon_skip_115630 | 14 | 95677022:95677216:95679555:95679746:95681977:95682070 | 95679555:95679746 | ENSG00000165959.7 | ENST00000298912.4 |
| exon_skip_115633 | 14 | 95679656:95679746:95681977:95682070:95688027:95688111 | 95681977:95682070 | ENSG00000165959.7 | ENST00000298912.4,ENST00000555336.2,ENST00000555615.1 |
| exon_skip_115634 | 14 | 95688069:95688111:95688739:95688936:95690096:95690192 | 95688739:95688936 | ENSG00000165959.7 | ENST00000553733.1 |
| exon_skip_115636 | 14 | 95688069:95688111:95690096:95690192:95696408:95696470 | 95690096:95690192 | ENSG00000165959.7 | ENST00000298912.4,ENST00000555336.2,ENST00000555615.1 |
| exon_skip_115639 | 14 | 95690096:95690192:95696408:95696470:95786047:95786215 | 95696408:95696470 | ENSG00000165959.7 | ENST00000553733.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CLMN |
| 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 |
| ENST00000298912 | 95660185 | 95660256 | Frame-shift |
| ENST00000298912 | 95662834 | 95663031 | Frame-shift |
| ENST00000298912 | 95679555 | 95679746 | Frame-shift |
| ENST00000298912 | 95669174 | 95670800 | In-frame |
| ENST00000298912 | 95681977 | 95682070 | In-frame |
| ENST00000298912 | 95690096 | 95690192 | 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 |
| ENST00000298912 | 95660185 | 95660256 | Frame-shift |
| ENST00000298912 | 95662834 | 95663031 | Frame-shift |
| ENST00000298912 | 95679555 | 95679746 | Frame-shift |
| ENST00000298912 | 95669174 | 95670800 | In-frame |
| ENST00000298912 | 95681977 | 95682070 | In-frame |
| ENST00000298912 | 95690096 | 95690192 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CLMN |
| 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 |
| ENST00000298912 | 12764 | 1002 | 95690096 | 95690192 | 259 | 354 | 48 | 80 |
| ENST00000298912 | 12764 | 1002 | 95681977 | 95682070 | 439 | 531 | 108 | 139 |
| ENST00000298912 | 12764 | 1002 | 95669174 | 95670800 | 1000 | 2625 | 295 | 837 |
| 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 |
| ENST00000298912 | 12764 | 1002 | 95690096 | 95690192 | 259 | 354 | 48 | 80 |
| ENST00000298912 | 12764 | 1002 | 95681977 | 95682070 | 439 | 531 | 108 | 139 |
| ENST00000298912 | 12764 | 1002 | 95669174 | 95670800 | 1000 | 2625 | 295 | 837 |
| 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 |
| Q96JQ2 | 48 | 80 | 1 | 1002 | Chain | ID=PRO_0000089854;Note=Calmin |
| Q96JQ2 | 48 | 80 | 32 | 139 | Domain | Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q96JQ2 | 48 | 80 | 1 | 288 | Region | Note=Actin-binding |
| Q96JQ2 | 108 | 139 | 1 | 1002 | Chain | ID=PRO_0000089854;Note=Calmin |
| Q96JQ2 | 108 | 139 | 32 | 139 | Domain | Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q96JQ2 | 108 | 139 | 1 | 288 | Region | Note=Actin-binding |
| Q96JQ2 | 295 | 837 | 1 | 1002 | Chain | ID=PRO_0000089854;Note=Calmin |
| Q96JQ2 | 295 | 837 | 301 | 301 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q96JQ2 | 295 | 837 | 619 | 619 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 699 | 699 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 713 | 713 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 769 | 769 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 661 | 661 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q96JQ2 | 48 | 80 | 1 | 1002 | Chain | ID=PRO_0000089854;Note=Calmin |
| Q96JQ2 | 48 | 80 | 32 | 139 | Domain | Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q96JQ2 | 48 | 80 | 1 | 288 | Region | Note=Actin-binding |
| Q96JQ2 | 108 | 139 | 1 | 1002 | Chain | ID=PRO_0000089854;Note=Calmin |
| Q96JQ2 | 108 | 139 | 32 | 139 | Domain | Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q96JQ2 | 108 | 139 | 1 | 288 | Region | Note=Actin-binding |
| Q96JQ2 | 295 | 837 | 1 | 1002 | Chain | ID=PRO_0000089854;Note=Calmin |
| Q96JQ2 | 295 | 837 | 301 | 301 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q96JQ2 | 295 | 837 | 619 | 619 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 699 | 699 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 713 | 713 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 769 | 769 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q96JQ2 | 295 | 837 | 661 | 661 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CLMN |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
CLMN_BRCA_exon_skip_115627_psi_boxplot.png |
CLMN_CESC_exon_skip_115627_psi_boxplot.png |
CLMN_LIHC_exon_skip_115627_psi_boxplot.png |
CLMN_STAD_exon_skip_115627_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 |
| HNSC | TCGA-F7-A624-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| KICH | TCGA-KN-8430-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| PRAD | TCGA-KK-A59V-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| READ | TCGA-EI-6882-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| STAD | TCGA-BR-4256-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| STAD | TCGA-BR-4257-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_115626 | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115627 | 95669175 | 95670800 | 95669190 | 95669190 | Frame_Shift_Del | G | - | p.P832fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115627 | 95669175 | 95670800 | 95669202 | 95669202 | Frame_Shift_Del | T | - | p.K828fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115627 | 95669175 | 95670800 | 95669213 | 95669213 | Frame_Shift_Del | T | - | p.R825fs |
| COAD | TCGA-AA-3492-01 | exon_skip_115627 | 95669175 | 95670800 | 95669231 | 95669231 | Frame_Shift_Del | G | - | p.H819fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115627 | 95669175 | 95670800 | 95669231 | 95669231 | Frame_Shift_Del | G | - | p.H819fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115627 | 95669175 | 95670800 | 95669231 | 95669231 | Frame_Shift_Del | G | - | p.H819fs |
| STAD | TCGA-CG-4442-01 | exon_skip_115627 | 95669175 | 95670800 | 95669231 | 95669231 | Frame_Shift_Del | G | - | p.H819fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_115627 | 95669175 | 95670800 | 95669614 | 95669614 | Frame_Shift_Del | G | - | p.P691fs |
| UCEC | TCGA-AX-A0IS-01 | exon_skip_115627 | 95669175 | 95670800 | 95669799 | 95669800 | Frame_Shift_Del | AT | - | p.H629fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115627 | 95669175 | 95670800 | 95669839 | 95669839 | Frame_Shift_Del | T | - | p.K617fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115627 | 95669175 | 95670800 | 95669874 | 95669874 | Frame_Shift_Del | T | - | p.K604fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_115627 | 95669175 | 95670800 | 95670007 | 95670007 | Frame_Shift_Del | G | - | p.P560fs |
| LUAD | TCGA-86-A4JF-01 | exon_skip_115627 | 95669175 | 95670800 | 95670103 | 95670103 | Frame_Shift_Del | G | - | p.P528fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115627 | 95669175 | 95670800 | 95670451 | 95670451 | Frame_Shift_Del | T | - | p.K412fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115627 | 95669175 | 95670800 | 95670514 | 95670514 | Frame_Shift_Del | C | - | p.G391fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115627 | 95669175 | 95670800 | 95670514 | 95670514 | Frame_Shift_Del | C | - | p.G391fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_115627 | 95669175 | 95670800 | 95670714 | 95670714 | Frame_Shift_Del | T | - | p.K324fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115630 | 95679556 | 95679746 | 95679590 | 95679590 | Frame_Shift_Del | C | - | p.A192fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115630 | 95679556 | 95679746 | 95679679 | 95679679 | Frame_Shift_Del | C | - | p.G162fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_115633 | 95681978 | 95682070 | 95682065 | 95682065 | Frame_Shift_Del | T | - | p.K110fs |
| UCEC | TCGA-D1-A101-01 | exon_skip_115626 | 95662835 | 95663031 | 95662948 | 95662949 | Frame_Shift_Ins | - | T | p.K865fs |
| CESC | TCGA-DS-A1OB-01 | exon_skip_115627 | 95669175 | 95670800 | 95669529 | 95669530 | Frame_Shift_Ins | - | G | p.V719fs |
| CESC | TCGA-DS-A1OC-01 | exon_skip_115627 | 95669175 | 95670800 | 95669529 | 95669530 | Frame_Shift_Ins | - | G | p.V719fs |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_115626 | 95662835 | 95663031 | 95662971 | 95662971 | Nonsense_Mutation | C | A | p.E858* |
| BRCA | TCGA-BH-A18V-01 | exon_skip_115627 | 95669175 | 95670800 | 95669354 | 95669354 | Nonsense_Mutation | G | A | p.Q778* |
| BLCA | TCGA-ZF-A9RM-01 | exon_skip_115627 | 95669175 | 95670800 | 95670021 | 95670021 | Nonsense_Mutation | A | T | p.Y555* |
| HNSC | TCGA-CQ-7071-01 | exon_skip_115627 | 95669175 | 95670800 | 95670176 | 95670176 | Nonsense_Mutation | G | A | p.Q504* |
| THYM | TCGA-X7-A8M0-01 | exon_skip_115627 | 95669175 | 95670800 | 95670319 | 95670319 | Nonsense_Mutation | G | T | p.S456X |
| STAD | TCGA-HU-A4G8-01 | exon_skip_115627 | 95669175 | 95670800 | 95669173 | 95669173 | Splice_Site | A | G | . |
| STAD | TCGA-HU-A4G8-01 | exon_skip_115627 | 95669175 | 95670800 | 95669173 | 95669173 | Splice_Site | A | G | p.Q837_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_115627 | |
| Skipped exon start: 95669175 | |
| Skipped exon end: 95670800 | |
| Mutation start: 95669173 | |
| Mutation end: 95669173 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: . | |
| Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_115627 | |
| Skipped exon start: 95669175 | |
| Skipped exon end: 95670800 | |
| Mutation start: 95669173 | |
| Mutation end: 95669173 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.Q837_splice | |
exon_skip_115627_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_285856_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_308974_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_328529_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374468_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374469_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_45545_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_49506_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_507604_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_513485_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_92194_STAD_TCGA-HU-A4G8-01.png | |
| - 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 |
| DV90_LUNG | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| HEC108_ENDOMETRIUM | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| HEC59_ENDOMETRIUM | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| 2313287_STOMACH | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| SNU407_LARGE_INTESTINE | 95662835 | 95663031 | 95662949 | 95662949 | Frame_Shift_Del | T | - | p.K865fs |
| KYSE150_OESOPHAGUS | 95669175 | 95670800 | 95669506 | 95669506 | Frame_Shift_Del | A | - | p.F727fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95669175 | 95670800 | 95670201 | 95670202 | Frame_Shift_Ins | - | A | p.L495fs |
| NCIH650_LUNG | 95660186 | 95660256 | 95660211 | 95660211 | Missense_Mutation | C | A | p.D939Y |
| HCT15_LARGE_INTESTINE | 95662835 | 95663031 | 95662892 | 95662892 | Missense_Mutation | C | T | p.S884N |
| SISO_CERVIX | 95662835 | 95663031 | 95662997 | 95662997 | Missense_Mutation | T | A | p.N849I |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95662835 | 95663031 | 95662997 | 95662997 | Missense_Mutation | T | A | p.N849I |
| HT115_LARGE_INTESTINE | 95669175 | 95670800 | 95669195 | 95669195 | Missense_Mutation | C | A | p.D831Y |
| HT1197_URINARY_TRACT | 95669175 | 95670800 | 95669269 | 95669269 | Missense_Mutation | C | G | p.G806A |
| HEC251_ENDOMETRIUM | 95669175 | 95670800 | 95669282 | 95669282 | Missense_Mutation | T | C | p.R802G |
| GP2D_LARGE_INTESTINE | 95669175 | 95670800 | 95669291 | 95669291 | Missense_Mutation | A | G | p.Y799H |
| GP5D_LARGE_INTESTINE | 95669175 | 95670800 | 95669291 | 95669291 | Missense_Mutation | A | G | p.Y799H |
| MELJUSO_SKIN | 95669175 | 95670800 | 95669338 | 95669338 | Missense_Mutation | G | A | p.S783F |
| KNS62_LUNG | 95669175 | 95670800 | 95669347 | 95669347 | Missense_Mutation | C | A | p.S780I |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95669175 | 95670800 | 95669419 | 95669419 | Missense_Mutation | T | C | p.D756G |
| DU145_PROSTATE | 95669175 | 95670800 | 95669463 | 95669463 | Missense_Mutation | C | A | p.E741D |
| KELLY_AUTONOMIC_GANGLIA | 95669175 | 95670800 | 95669540 | 95669540 | Missense_Mutation | G | A | p.L716F |
| HEC151_ENDOMETRIUM | 95669175 | 95670800 | 95669683 | 95669683 | Missense_Mutation | G | A | p.P668L |
| HKA1_SKIN | 95669175 | 95670800 | 95669776 | 95669776 | Missense_Mutation | T | G | p.E637A |
| CAL148_BREAST | 95669175 | 95670800 | 95669792 | 95669792 | Missense_Mutation | G | A | p.H632Y |
| SKMES1_LUNG | 95669175 | 95670800 | 95669907 | 95669907 | Missense_Mutation | C | A | p.E593D |
| LNCAPCLONEFGC_PROSTATE | 95669175 | 95670800 | 95670077 | 95670077 | Missense_Mutation | A | G | p.S537P |
| MCC13_SKIN | 95669175 | 95670800 | 95670100 | 95670100 | Missense_Mutation | C | T | p.G529E |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95669175 | 95670800 | 95670104 | 95670104 | Missense_Mutation | G | A | p.P528S |
| MCC13_SKIN | 95669175 | 95670800 | 95670204 | 95670204 | Missense_Mutation | A | T | p.F494L |
| KM12_LARGE_INTESTINE | 95669175 | 95670800 | 95670218 | 95670218 | Missense_Mutation | C | T | p.A490T |
| UMUC3_URINARY_TRACT | 95669175 | 95670800 | 95670250 | 95670250 | Missense_Mutation | G | A | p.S479L |
| TT_OESOPHAGUS | 95669175 | 95670800 | 95670325 | 95670325 | Missense_Mutation | T | C | p.K454R |
| SKMEL5_SKIN | 95669175 | 95670800 | 95670343 | 95670343 | Missense_Mutation | C | T | p.G448E |
| HCC2998_LARGE_INTESTINE | 95669175 | 95670800 | 95670487 | 95670487 | Missense_Mutation | T | C | p.E400G |
| ES3_BONE | 95669175 | 95670800 | 95670554 | 95670554 | Missense_Mutation | C | T | p.E378K |
| MCC26_SKIN | 95669175 | 95670800 | 95670665 | 95670665 | Missense_Mutation | C | T | p.E341K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95669175 | 95670800 | 95670695 | 95670695 | Missense_Mutation | T | C | p.N331D |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95669175 | 95670800 | 95670748 | 95670748 | Missense_Mutation | C | T | p.R313H |
| UMUC3_URINARY_TRACT | 95679556 | 95679746 | 95679570 | 95679570 | Missense_Mutation | C | G | p.Q198H |
| UDSCC2_UPPER_AERODIGESTIVE_TRACT | 95679556 | 95679746 | 95679594 | 95679594 | Missense_Mutation | G | C | p.I190M |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95679556 | 95679746 | 95679595 | 95679595 | Missense_Mutation | A | G | p.I190T |
| DU145_PROSTATE | 95679556 | 95679746 | 95679683 | 95679683 | Missense_Mutation | C | T | p.G161R |
| IPC298_SKIN | 95681978 | 95682070 | 95681998 | 95681998 | Missense_Mutation | T | C | p.N133D |
| CPCN_LUNG | 95681978 | 95682070 | 95682039 | 95682039 | Missense_Mutation | A | G | p.I119T |
| RH41_SOFT_TISSUE | 95690097 | 95690192 | 95690159 | 95690159 | Missense_Mutation | C | T | p.V60I |
| RH4_SOFT_TISSUE | 95690097 | 95690192 | 95690159 | 95690159 | Missense_Mutation | C | T | p.V60I |
| HCC2998_LARGE_INTESTINE | 95662835 | 95663031 | 95662971 | 95662971 | Nonsense_Mutation | C | A | p.E858* |
| OAW42_OVARY | 95669175 | 95670800 | 95669629 | 95669629 | Nonsense_Mutation | A | C | p.L686* |
| OC316_OVARY | 95696409 | 95696470 | 95696435 | 95696435 | Nonsense_Mutation | G | A | p.R40* |
| OC314_OVARY | 95696409 | 95696470 | 95696435 | 95696435 | Nonsense_Mutation | G | A | p.R40* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CLMN |
| 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 |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENST00000298912.4 | BRCA | rs1128468 | chr14:95660242 | C/T | 3.45e-28 |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENST00000298912.4 | KIRC | rs1128468 | chr14:95660242 | C/T | 1.05e-04 |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENST00000298912.4 | OV | rs1128468 | chr14:95660242 | C/T | 3.04e-05 |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENST00000298912.4 | PRAD | rs1128468 | chr14:95660242 | C/T | 4.63e-10 |
| exon_skip_115622 | 14 | 95657866:95658069:95660185:95660256:95660872:95660933 | 95660185:95660256 | ENST00000298912.4 | STAD | rs1128468 | chr14:95660242 | C/T | 2.42e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLMN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLMN |
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RelatedDrugs for CLMN |
| 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 CLMN |
| 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)
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