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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 EHBP1L1 |
 Gene summary |
| Gene information | Gene symbol | EHBP1L1 | Gene ID | 254102 |
| Gene name | EH domain binding protein 1 like 1 | |
| Synonyms | - | |
| Cytomap | 11q13.1 | |
| Type of gene | protein-coding | |
| Description | EH domain-binding protein 1-like protein 1tangerin | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N3D4 | |
| Context | PubMed: EHBP1L1 [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 EHBP1L1 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 EHBP1L1 |
| 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 EHBP1L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_61103 | 11 | 65343516:65343877:65346548:65346606:65346811:65346851 | 65346548:65346606 | ENSG00000173442.7 | ENST00000533237.1 |
| exon_skip_61108 | 11 | 65346811:65346907:65347406:65347460:65347551:65347730 | 65347406:65347460 | ENSG00000173442.7 | ENST00000309295.4,ENST00000533237.1 |
| exon_skip_61143 | 11 | 65348688:65348844:65349009:65349487:65351711:65351869 | 65349009:65349487 | ENSG00000173442.7 | ENST00000533237.1 |
| exon_skip_61147 | 11 | 65348688:65348844:65349009:65351236:65351711:65351869 | 65349009:65351236 | ENSG00000173442.7 | ENST00000309295.4 |
| exon_skip_61153 | 11 | 65349369:65349436:65351062:65351236:65351711:65351869 | 65351062:65351236 | ENSG00000173442.7 | ENST00000533465.1 |
| exon_skip_61164 | 11 | 65357221:65357291:65357406:65357462:65357557:65357676 | 65357406:65357462 | ENSG00000173442.7 | ENST00000309295.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EHBP1L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_61103 | 11 | 65343516:65343877:65346548:65346606:65346811:65346851 | 65346548:65346606 | ENSG00000173442.7 | ENST00000533237.1 |
| exon_skip_61108 | 11 | 65346811:65346907:65347406:65347460:65347551:65347730 | 65347406:65347460 | ENSG00000173442.7 | ENST00000309295.4,ENST00000533237.1 |
| exon_skip_61109 | 11 | 65347551:65347730:65347807:65347950:65348528:65348597 | 65347807:65347950 | ENSG00000173442.7 | ENST00000309295.4,ENST00000533237.1 |
| exon_skip_61143 | 11 | 65348688:65348844:65349009:65349487:65351711:65351869 | 65349009:65349487 | ENSG00000173442.7 | ENST00000533237.1 |
| exon_skip_61147 | 11 | 65348688:65348844:65349009:65351236:65351711:65351869 | 65349009:65351236 | ENSG00000173442.7 | ENST00000309295.4 |
| exon_skip_61153 | 11 | 65349369:65349436:65351062:65351236:65351711:65351869 | 65351062:65351236 | ENSG00000173442.7 | ENST00000533465.1 |
| exon_skip_61164 | 11 | 65357221:65357291:65357406:65357462:65357557:65357676 | 65357406:65357462 | ENSG00000173442.7 | ENST00000309295.4 |
| 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 EHBP1L1 |
| 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 |
| ENST00000309295 | 65349009 | 65351236 | Frame-shift |
| ENST00000309295 | 65357406 | 65357462 | Frame-shift |
| ENST00000309295 | 65347406 | 65347460 | 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 |
| ENST00000309295 | 65347807 | 65347950 | Frame-shift |
| ENST00000309295 | 65349009 | 65351236 | Frame-shift |
| ENST00000309295 | 65357406 | 65357462 | Frame-shift |
| ENST00000309295 | 65347406 | 65347460 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EHBP1L1 |
| 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 |
| ENST00000309295 | 5202 | 1523 | 65347406 | 65347460 | 524 | 577 | 86 | 104 |
| 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 |
| ENST00000309295 | 5202 | 1523 | 65347406 | 65347460 | 524 | 577 | 86 | 104 |
| 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 |
| Q8N3D4 | 86 | 104 | 1 | 1523 | Chain | ID=PRO_0000285204;Note=EH domain-binding protein 1-like protein 1 |
| Q8N3D4 | 86 | 104 | 8 | 157 | Domain | Note=C2 NT-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01186 |
| 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 |
| Q8N3D4 | 86 | 104 | 1 | 1523 | Chain | ID=PRO_0000285204;Note=EH domain-binding protein 1-like protein 1 |
| Q8N3D4 | 86 | 104 | 8 | 157 | Domain | Note=C2 NT-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01186 |
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SNVs in the skipped exons for EHBP1L1 |
| - 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. |
EHBP1L1_COAD_exon_skip_61147_psi_boxplot.png |
EHBP1L1_GBM_exon_skip_61147_psi_boxplot.png |
EHBP1L1_LIHC_exon_skip_61147_psi_boxplot.png |
EHBP1L1_SKCM_exon_skip_61147_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 |
| THCA | TCGA-IM-A420-01 | exon_skip_61143 | 65349010 | 65349487 | 65349139 | 65349140 | Frame_Shift_Del | AG | - | p.PA332fs |
| THCA | TCGA-IM-A420-01 | exon_skip_61147 | 65349010 | 65351236 | 65349139 | 65349140 | Frame_Shift_Del | AG | - | p.PA332fs |
| GBM | TCGA-12-5295-01 | exon_skip_61143 | 65349010 | 65349487 | 65349460 | 65349460 | Frame_Shift_Del | A | - | p.G439fs |
| GBM | TCGA-12-5295-01 | exon_skip_61147 | 65349010 | 65351236 | 65349460 | 65349460 | Frame_Shift_Del | A | - | p.G439fs |
| COAD | TCGA-A6-6781-01 | exon_skip_61147 | 65349010 | 65351236 | 65349656 | 65349657 | Frame_Shift_Del | GA | - | p.504_505del |
| LIHC | TCGA-2Y-A9GW-01 | exon_skip_61147 | 65349010 | 65351236 | 65350076 | 65350076 | Frame_Shift_Del | G | - | p.P644fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_61147 | 65349010 | 65351236 | 65350199 | 65350199 | Frame_Shift_Del | G | - | p.G686fs |
| LIHC | TCGA-CC-A123-01 | exon_skip_61147 | 65349010 | 65351236 | 65350204 | 65350219 | Frame_Shift_Del | ACTGAAGATAGAAGAT | - | p.PLKIED687fs |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_61147 | 65349010 | 65351236 | 65350324 | 65350324 | Frame_Shift_Del | G | - | p.Q727fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_61147 | 65349010 | 65351236 | 65350496 | 65350496 | Frame_Shift_Del | G | - | p.G785fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_61147 | 65349010 | 65351236 | 65350605 | 65350605 | Frame_Shift_Del | C | - | p.T821fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_61147 | 65349010 | 65351236 | 65351025 | 65351025 | Frame_Shift_Del | T | - | p.V961fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_61164 | 65357407 | 65357462 | 65357441 | 65357441 | Frame_Shift_Del | C | - | p.S1346fs |
| BLCA | TCGA-XF-A9SX-01 | exon_skip_61147 | 65349010 | 65351236 | 65349822 | 65349822 | Nonsense_Mutation | G | A | p.W560* |
| BLCA | TCGA-FD-A3SP-01 | exon_skip_61147 | 65349010 | 65351236 | 65349830 | 65349830 | Nonsense_Mutation | G | T | p.E563* |
| HNSC | TCGA-IQ-A61H-01 | exon_skip_61147 | 65349010 | 65351236 | 65349860 | 65349860 | Nonsense_Mutation | G | T | p.E573* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_61147 | 65349010 | 65351236 | 65349944 | 65349944 | Nonsense_Mutation | G | T | p.E601* |
| HNSC | TCGA-IQ-A61H-01 | exon_skip_61147 | 65349010 | 65351236 | 65350805 | 65350805 | Nonsense_Mutation | G | T | p.E888* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-12-5295-01 |
| Cancer type: GBM | |
| ESID: exon_skip_61147 | |
| Skipped exon start: 65349010 | |
| Skipped exon end: 65351236 | |
| Mutation start: 65349460 | |
| Mutation end: 65349460 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.G439fs | |
| Sample: TCGA-12-5295-01 |
| Cancer type: GBM | |
| ESID: exon_skip_61143 | |
| Skipped exon start: 65349010 | |
| Skipped exon end: 65349487 | |
| Mutation start: 65349460 | |
| Mutation end: 65349460 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.G439fs | |
exon_skip_61143_GBM_TCGA-12-5295-01.png | |
exon_skip_61147_GBM_TCGA-12-5295-01.png | |
 | Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_61147 | |
| Skipped exon start: 65349010 | |
| Skipped exon end: 65351236 | |
| Mutation start: 65350605 | |
| Mutation end: 65350605 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.T821fs | |
| Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_61164 | |
| Skipped exon start: 65357407 | |
| Skipped exon end: 65357462 | |
| Mutation start: 65357441 | |
| Mutation end: 65357441 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S1346fs | |
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_56834_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_60294_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_60561_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_61147_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_6331_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_6399_LIHC_TCGA-DD-A39Y-01.png | |
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 | Sample: TCGA-EE-A3J5-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_61147 | |
| Skipped exon start: 65349010 | |
| Skipped exon end: 65351236 | |
| Mutation start: 65350324 | |
| Mutation end: 65350324 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q727fs | |
exon_skip_28428_SKCM_TCGA-EE-A3J5-06.png | |
exon_skip_287825_SKCM_TCGA-EE-A3J5-06.png | |
exon_skip_287829_SKCM_TCGA-EE-A3J5-06.png | |
exon_skip_61147_SKCM_TCGA-EE-A3J5-06.png | |
 | Sample: TCGA-12-5295-01 |
| Cancer type: GBM | |
| ESID: exon_skip_61147 | |
| Skipped exon start: 65349010 | |
| Skipped exon end: 65351236 | |
| Mutation start: 65349460 | |
| Mutation end: 65349460 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.G439fs | |
| Sample: TCGA-12-5295-01 |
| Cancer type: GBM | |
| ESID: exon_skip_61143 | |
| Skipped exon start: 65349010 | |
| Skipped exon end: 65349487 | |
| Mutation start: 65349460 | |
| Mutation end: 65349460 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.G439fs | |
| exon_skip_61143_GBM_TCGA-12-5295-01.png | |
| exon_skip_61147_GBM_TCGA-12-5295-01.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 |
| LS411N_LARGE_INTESTINE | 65349010 | 65351236 | 65349039 | 65349039 | Frame_Shift_Del | C | - | p.A299fs |
| LS411N_LARGE_INTESTINE | 65349010 | 65349487 | 65349039 | 65349039 | Frame_Shift_Del | C | - | p.A299fs |
| NUGC3_STOMACH | 65349010 | 65351236 | 65349086 | 65349086 | Frame_Shift_Del | C | - | p.P316fs |
| NUGC3_STOMACH | 65349010 | 65349487 | 65349086 | 65349086 | Frame_Shift_Del | C | - | p.P316fs |
| CAL54_KIDNEY | 65349010 | 65351236 | 65350543 | 65350543 | Frame_Shift_Del | G | - | p.E800fs |
| 2313287_STOMACH | 65349010 | 65351236 | 65350998 | 65350998 | Frame_Shift_Del | G | - | p.W952fs |
| SNU324_PANCREAS | 65346549 | 65346606 | 65346556 | 65346556 | Missense_Mutation | G | A | p.D38N |
| JHUEM2_ENDOMETRIUM | 65346549 | 65346606 | 65346593 | 65346593 | Missense_Mutation | G | A | p.R50H |
| HCT15_LARGE_INTESTINE | 65346549 | 65346606 | 65346593 | 65346593 | Missense_Mutation | G | A | p.R50H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65346549 | 65346606 | 65346593 | 65346593 | Missense_Mutation | G | A | p.R50H |
| HUCCT1_BILIARY_TRACT | 65347407 | 65347460 | 65347416 | 65347416 | Missense_Mutation | G | T | p.V90L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65349077 | 65349077 | Missense_Mutation | G | A | p.A312T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65349487 | 65349077 | 65349077 | Missense_Mutation | G | A | p.A312T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65349089 | 65349089 | Missense_Mutation | C | A | p.P316T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65349487 | 65349089 | 65349089 | Missense_Mutation | C | A | p.P316T |
| TTC466_BONE | 65349010 | 65351236 | 65349213 | 65349213 | Missense_Mutation | G | A | p.R357K |
| TTC466_BONE | 65349010 | 65349487 | 65349213 | 65349213 | Missense_Mutation | G | A | p.R357K |
| NCIH226_LUNG | 65349010 | 65351236 | 65349279 | 65349279 | Missense_Mutation | A | T | p.E379V |
| NCIH226_LUNG | 65349010 | 65349487 | 65349279 | 65349279 | Missense_Mutation | A | T | p.E379V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65349338 | 65349338 | Missense_Mutation | G | A | p.G399R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65349487 | 65349338 | 65349338 | Missense_Mutation | G | A | p.G399R |
| SNGM_ENDOMETRIUM | 65349010 | 65351236 | 65349342 | 65349342 | Missense_Mutation | G | A | p.G400D |
| SNGM_ENDOMETRIUM | 65349010 | 65349487 | 65349342 | 65349342 | Missense_Mutation | G | A | p.G400D |
| EFO27_OVARY | 65349010 | 65351236 | 65349342 | 65349342 | Missense_Mutation | G | A | p.G400D |
| EFO27_OVARY | 65349010 | 65349487 | 65349342 | 65349342 | Missense_Mutation | G | A | p.G400D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65349349 | 65349349 | Missense_Mutation | G | T | p.E402D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65349487 | 65349349 | 65349349 | Missense_Mutation | G | T | p.E402D |
| HEC108_ENDOMETRIUM | 65349010 | 65351236 | 65349464 | 65349464 | Missense_Mutation | G | A | p.E441K |
| HEC108_ENDOMETRIUM | 65349010 | 65349487 | 65349464 | 65349464 | Missense_Mutation | G | A | p.E441K |
| KATOIII_STOMACH | 65349010 | 65351236 | 65349591 | 65349591 | Missense_Mutation | C | T | p.A483V |
| DANG_PANCREAS | 65349010 | 65351236 | 65349609 | 65349609 | Missense_Mutation | C | G | p.S489C |
| HEC251_ENDOMETRIUM | 65349010 | 65351236 | 65349686 | 65349686 | Missense_Mutation | G | A | p.A515T |
| HN_UPPER_AERODIGESTIVE_TRACT | 65349010 | 65351236 | 65349686 | 65349686 | Missense_Mutation | G | A | p.A515T |
| HEC108_ENDOMETRIUM | 65349010 | 65351236 | 65349776 | 65349776 | Missense_Mutation | C | A | p.L545M |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65349793 | 65349793 | Missense_Mutation | G | T | p.Q550H |
| NCIH2342_LUNG | 65349010 | 65351236 | 65349806 | 65349806 | Missense_Mutation | A | T | p.R555W |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65349978 | 65349978 | Missense_Mutation | C | T | p.A612V |
| SNU1040_LARGE_INTESTINE | 65349010 | 65351236 | 65350116 | 65350116 | Missense_Mutation | C | T | p.A658V |
| MRKNU1_BREAST | 65349010 | 65351236 | 65350244 | 65350244 | Missense_Mutation | A | G | p.T701A |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350277 | 65350277 | Missense_Mutation | C | T | p.P712S |
| HCC2998_LARGE_INTESTINE | 65349010 | 65351236 | 65350340 | 65350340 | Missense_Mutation | G | A | p.D733N |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350373 | 65350373 | Missense_Mutation | G | A | p.A744T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350458 | 65350458 | Missense_Mutation | C | T | p.A772V |
| NCIH740_LUNG | 65349010 | 65351236 | 65350565 | 65350565 | Missense_Mutation | G | C | p.E808Q |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350787 | 65350787 | Missense_Mutation | C | G | p.Q882E |
| BE2M17_AUTONOMIC_GANGLIA | 65349010 | 65351236 | 65350794 | 65350794 | Missense_Mutation | C | T | p.S884L |
| SKNBE2_AUTONOMIC_GANGLIA | 65349010 | 65351236 | 65350794 | 65350794 | Missense_Mutation | C | T | p.S884L |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350820 | 65350820 | Missense_Mutation | G | T | p.V893F |
| 451LU_SKIN | 65349010 | 65351236 | 65350901 | 65350901 | Missense_Mutation | G | A | p.E920K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350910 | 65350910 | Missense_Mutation | G | A | p.G923R |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65349010 | 65351236 | 65350927 | 65350927 | Missense_Mutation | G | T | p.E928D |
| KELLY_AUTONOMIC_GANGLIA | 65349010 | 65351236 | 65350928 | 65350928 | Missense_Mutation | A | G | p.T929A |
| DU145_PROSTATE | 65349010 | 65351236 | 65350959 | 65350959 | Missense_Mutation | C | G | p.A939G |
| D502MG_CENTRAL_NERVOUS_SYSTEM | 65349010 | 65351236 | 65350959 | 65350959 | Missense_Mutation | C | G | p.A939G |
| NCIH513_PLEURA | 65349010 | 65351236 | 65350962 | 65350962 | Missense_Mutation | G | T | p.G940V |
| KYSE450_OESOPHAGUS | 65349010 | 65351236 | 65351025 | 65351025 | Missense_Mutation | T | G | p.V961G |
| TGBC24TKB_BILIARY_TRACT | 65349010 | 65351236 | 65351025 | 65351025 | Missense_Mutation | T | G | p.V961G |
| NCIH1944_LUNG | 65349010 | 65351236 | 65351041 | 65351041 | Missense_Mutation | G | T | p.E966D |
| HCC1195_LUNG | 65349010 | 65351236 | 65351142 | 65351142 | Missense_Mutation | C | G | p.P1000R |
| HCC1195_LUNG | 65351063 | 65351236 | 65351142 | 65351142 | Missense_Mutation | C | G | p.P1000R |
| RERFLCFM_LUNG | 65357407 | 65357462 | 65357413 | 65357413 | Missense_Mutation | G | A | p.S1337N |
| NB13_AUTONOMIC_GANGLIA | 65349010 | 65351236 | 65350955 | 65350955 | Nonsense_Mutation | G | T | p.E938* |
| SNU1040_LARGE_INTESTINE | 65349010 | 65351236 | 65351039 | 65351039 | Nonsense_Mutation | G | T | p.E966* |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65347407 | 65347460 | 65347407 | 65347407 | Splice_Site | G | A | p.D87N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EHBP1L1 |
| 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 EHBP1L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EHBP1L1 |
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RelatedDrugs for EHBP1L1 |
| 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 EHBP1L1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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