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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 DNAH14 |
 Gene summary |
| Gene information | Gene symbol | DNAH14 | Gene ID | 127602 |
| Gene name | dynein axonemal heavy chain 14 | |
| Synonyms | C1orf67|Dnahc14|HL-18|HL18 | |
| Cytomap | 1q42.12 | |
| Type of gene | protein-coding | |
| Description | dynein heavy chain 14, axonemalaxonemal beta dynein heavy chain 14ciliary dynein heavy chain 14dynein, axonemal, heavy polypeptide 14 | |
| Modification date | 20180523 | |
| UniProtAcc | Q0VDD8 | |
| Context | PubMed: DNAH14 [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 DNAH14 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 DNAH14 |
| 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 DNAH14 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18568 | 1 | 225142740:225142800:225147854:225148004:225152180:225152311 | 225147854:225148004 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000366849.1,ENST00000486657.1,ENST00000439375.2,ENST00000366850.3,ENST00000366848.1 |
| exon_skip_18571 | 1 | 225155247:225155285:225156460:225156576:225157335:225157531 | 225156460:225156576 | ENSG00000185842.10 | ENST00000453375.1 |
| exon_skip_18572 | 1 | 225155247:225155285:225156460:225156576:225161792:225161855 | 225156460:225156576 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000439375.2 |
| exon_skip_18577 | 1 | 225156460:225156576:225161792:225161855:225190484:225190629 | 225161792:225161855 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000366849.1,ENST00000439375.2 |
| exon_skip_18581 | 1 | 225161792:225161855:225190484:225190629:225195114:225195246 | 225190484:225190629 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000366849.1,ENST00000439375.2 |
| exon_skip_18583 | 1 | 225195114:225195246:225211316:225211567:225226395:225226525 | 225211316:225211567 | ENSG00000185842.10 | ENST00000430092.1,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18592 | 1 | 225231445:225231491:225231587:225231685:225237911:225238078 | 225231587:225231685 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18598 | 1 | 225231587:225231685:225237911:225238078:225239152:225239386 | 225237911:225238078 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18601 | 1 | 225266908:225267250:225268080:225268450:225270250:225270441 | 225268080:225268450 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18604 | 1 | 225284819:225284941:225288414:225288586:225305385:225305490 | 225288414:225288586 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2,ENST00000328556.5 |
| exon_skip_18606 | 1 | 225305672:225305701:225306921:225306996:225311228:225311316 | 225306921:225306996 | ENSG00000185842.10 | ENST00000495456.1,ENST00000328556.5 |
| exon_skip_18607 | 1 | 225311228:225311316:225328469:225328723:225332098:225332330 | 225328469:225328723 | ENSG00000185842.10 | ENST00000328556.5 |
| exon_skip_18609 | 1 | 225333027:225333081:225334805:225334951:225339706:225339775 | 225334805:225334951 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18610 | 1 | 225333027:225333081:225334805:225334957:225339706:225339775 | 225334805:225334957 | ENSG00000185842.10 | ENST00000328556.5 |
| exon_skip_18615 | 1 | 225340398:225340585:225341451:225341528:225347015:225347187 | 225341451:225341528 | ENSG00000185842.10 | ENST00000445597.2 |
| exon_skip_18621 | 1 | 225341451:225341528:225347015:225347187:225355640:225355730 | 225347015:225347187 | ENSG00000185842.10 | ENST00000445597.2 |
| exon_skip_18624 | 1 | 225341451:225341528:225347030:225347187:225355640:225355730 | 225347030:225347187 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18627 | 1 | 225347030:225347187:225355640:225355730:225372992:225373127 | 225355640:225355730 | ENSG00000185842.10 | ENST00000430092.1,ENST00000445597.2,ENST00000439375.2,ENST00000328556.5 |
| exon_skip_18640 | 1 | 225393672:225393881:225394669:225394922:225418774:225418853 | 225394669:225394922 | ENSG00000185842.10 | ENST00000430092.1,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18641 | 1 | 225394669:225394922:225418774:225418853:225428294:225428524 | 225418774:225418853 | ENSG00000185842.10 | ENST00000430092.1,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18642 | 1 | 225428294:225428524:225438357:225438405:225440002:225440119 | 225438357:225438405 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18643 | 1 | 225428495:225428524:225440002:225440119:225445661:225445820 | 225440002:225440119 | ENSG00000185842.10 | ENST00000327794.6 |
| exon_skip_18644 | 1 | 225440002:225440119:225445661:225445820:225446822:225446955 | 225445661:225445820 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000450490.1,ENST00000439375.2 |
| exon_skip_18646 | 1 | 225458436:225458568:225459607:225459775:225460656:225460827 | 225459607:225459775 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18649 | 1 | 225463615:225463783:225465111:225465204:225477586:225477784 | 225465111:225465204 | ENSG00000185842.10 | ENST00000327794.6 |
| exon_skip_18651 | 1 | 225488570:225488732:225490857:225491049:225492609:225492791 | 225490857:225491049 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18653 | 1 | 225495986:225496112:225506284:225506379:225510365:225510525 | 225506284:225506379 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18657 | 1 | 225519138:225519279:225520992:225521208:225524967:225525198 | 225520992:225521208 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18658 | 1 | 225528158:225528403:225533663:225534082:225534157:225534356 | 225533663:225534082 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18659 | 1 | 225539348:225539585:225541504:225541590:225546197:225546354 | 225541504:225541590 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18663 | 1 | 225552493:225552596:225555506:225555578:225562389:225562579 | 225555506:225555578 | ENSG00000185842.10 | ENST00000327794.6 |
| exon_skip_18664 | 1 | 225552493:225552596:225555506:225555734:225562389:225562579 | 225555506:225555734 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18665 | 1 | 225567860:225568024:225569084:225569281:225576080:225576193 | 225569084:225569281 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18666 | 1 | 225569084:225569281:225576080:225576193:225577435:225577575 | 225576080:225576193 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000445597.2,ENST00000439375.2 |
| exon_skip_18667 | 1 | 225576080:225576193:225577435:225577575:225579992:225580153 | 225577435:225577575 | ENSG00000185842.10 | ENST00000430092.1,ENST00000327794.6,ENST00000445597.2,ENST00000439375.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAH14 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18568 | 1 | 225142740:225142800:225147854:225148004:225152180:225152311 | 225147854:225148004 | ENSG00000185842.10 | ENST00000430092.1,ENST00000366850.3,ENST00000400952.3,ENST00000366849.1,ENST00000366848.1,ENST00000486657.1,ENST00000439375.2 |
| exon_skip_18571 | 1 | 225155247:225155285:225156460:225156576:225157335:225157531 | 225156460:225156576 | ENSG00000185842.10 | ENST00000453375.1 |
| exon_skip_18572 | 1 | 225155247:225155285:225156460:225156576:225161792:225161855 | 225156460:225156576 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000439375.2 |
| exon_skip_18577 | 1 | 225156460:225156576:225161792:225161855:225190484:225190629 | 225161792:225161855 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000366849.1,ENST00000439375.2 |
| exon_skip_18581 | 1 | 225161792:225161855:225190484:225190629:225195114:225195246 | 225190484:225190629 | ENSG00000185842.10 | ENST00000430092.1,ENST00000400952.3,ENST00000366849.1,ENST00000439375.2 |
| exon_skip_18583 | 1 | 225195114:225195246:225211316:225211567:225226395:225226525 | 225211316:225211567 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18592 | 1 | 225231445:225231491:225231587:225231685:225237911:225238078 | 225231587:225231685 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18598 | 1 | 225231587:225231685:225237911:225238078:225239152:225239386 | 225237911:225238078 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18601 | 1 | 225266908:225267250:225268080:225268450:225270250:225270441 | 225268080:225268450 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18604 | 1 | 225284819:225284941:225288414:225288586:225305385:225305490 | 225288414:225288586 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2,ENST00000328556.5 |
| exon_skip_18606 | 1 | 225305672:225305701:225306921:225306996:225311228:225311316 | 225306921:225306996 | ENSG00000185842.10 | ENST00000328556.5,ENST00000495456.1 |
| exon_skip_18607 | 1 | 225311228:225311316:225328469:225328723:225332098:225332330 | 225328469:225328723 | ENSG00000185842.10 | ENST00000328556.5 |
| exon_skip_18609 | 1 | 225333027:225333081:225334805:225334951:225339706:225339775 | 225334805:225334951 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18610 | 1 | 225333027:225333081:225334805:225334957:225339706:225339775 | 225334805:225334957 | ENSG00000185842.10 | ENST00000328556.5 |
| exon_skip_18615 | 1 | 225340398:225340585:225341451:225341528:225347015:225347187 | 225341451:225341528 | ENSG00000185842.10 | ENST00000445597.2 |
| exon_skip_18621 | 1 | 225341451:225341528:225347015:225347187:225355640:225355730 | 225347015:225347187 | ENSG00000185842.10 | ENST00000445597.2 |
| exon_skip_18624 | 1 | 225341451:225341528:225347030:225347187:225355640:225355730 | 225347030:225347187 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18627 | 1 | 225347030:225347187:225355640:225355730:225372992:225373127 | 225355640:225355730 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2,ENST00000328556.5 |
| exon_skip_18629 | 1 | 225372992:225373127:225380397:225380613:225391884:225391975 | 225380397:225380613 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18637 | 1 | 225380397:225380613:225391884:225391975:225393672:225393881 | 225391884:225391975 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18640 | 1 | 225393672:225393881:225394669:225394922:225418774:225418853 | 225394669:225394922 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18641 | 1 | 225394669:225394922:225418774:225418853:225428294:225428524 | 225418774:225418853 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18644 | 1 | 225440002:225440119:225445661:225445820:225446822:225446955 | 225445661:225445820 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2,ENST00000327794.6,ENST00000450490.1 |
| exon_skip_18645 | 1 | 225454342:225454471:225458436:225458568:225477586:225477784 | 225458436:225458568 | ENSG00000185842.10 | ENST00000445597.2 |
| exon_skip_18646 | 1 | 225458436:225458568:225459607:225459775:225460656:225460827 | 225459607:225459775 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18649 | 1 | 225463615:225463783:225465111:225465204:225477586:225477784 | 225465111:225465204 | ENSG00000185842.10 | ENST00000327794.6 |
| exon_skip_18651 | 1 | 225488570:225488732:225490857:225491049:225492609:225492791 | 225490857:225491049 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2,ENST00000327794.6 |
| exon_skip_18653 | 1 | 225495986:225496112:225506284:225506379:225510365:225510525 | 225506284:225506379 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2,ENST00000327794.6 |
| exon_skip_18658 | 1 | 225528158:225528403:225533663:225534082:225534157:225534356 | 225533663:225534082 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2,ENST00000327794.6 |
| exon_skip_18659 | 1 | 225539348:225539585:225541504:225541590:225546197:225546354 | 225541504:225541590 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18663 | 1 | 225552493:225552596:225555506:225555578:225562389:225562579 | 225555506:225555578 | ENSG00000185842.10 | ENST00000327794.6 |
| exon_skip_18664 | 1 | 225552493:225552596:225555506:225555734:225562389:225562579 | 225555506:225555734 | ENSG00000185842.10 | ENST00000430092.1,ENST00000439375.2 |
| exon_skip_18665 | 1 | 225567860:225568024:225569084:225569281:225576080:225576193 | 225569084:225569281 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2,ENST00000327794.6 |
| exon_skip_18667 | 1 | 225576080:225576193:225577435:225577575:225579992:225580153 | 225577435:225577575 | ENSG00000185842.10 | ENST00000445597.2,ENST00000430092.1,ENST00000439375.2,ENST00000327794.6 |
| 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 DNAH14 |
| 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 |
| ENST00000445597 | 225211316 | 225211567 | Frame-shift |
| ENST00000445597 | 225341451 | 225341528 | Frame-shift |
| ENST00000445597 | 225347015 | 225347187 | Frame-shift |
| ENST00000445597 | 225394669 | 225394922 | Frame-shift |
| ENST00000445597 | 225418774 | 225418853 | Frame-shift |
| ENST00000445597 | 225506284 | 225506379 | Frame-shift |
| ENST00000445597 | 225533663 | 225534082 | Frame-shift |
| ENST00000445597 | 225569084 | 225569281 | Frame-shift |
| ENST00000445597 | 225576080 | 225576193 | Frame-shift |
| ENST00000445597 | 225577435 | 225577575 | Frame-shift |
| ENST00000445597 | 225355640 | 225355730 | In-frame |
| ENST00000445597 | 225490857 | 225491049 | 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 |
| ENST00000445597 | 225211316 | 225211567 | Frame-shift |
| ENST00000445597 | 225341451 | 225341528 | Frame-shift |
| ENST00000445597 | 225347015 | 225347187 | Frame-shift |
| ENST00000445597 | 225391884 | 225391975 | Frame-shift |
| ENST00000445597 | 225394669 | 225394922 | Frame-shift |
| ENST00000445597 | 225418774 | 225418853 | Frame-shift |
| ENST00000445597 | 225506284 | 225506379 | Frame-shift |
| ENST00000445597 | 225533663 | 225534082 | Frame-shift |
| ENST00000445597 | 225569084 | 225569281 | Frame-shift |
| ENST00000445597 | 225577435 | 225577575 | Frame-shift |
| ENST00000445597 | 225355640 | 225355730 | In-frame |
| ENST00000445597 | 225380397 | 225380613 | In-frame |
| ENST00000445597 | 225458436 | 225458568 | In-frame |
| ENST00000445597 | 225490857 | 225491049 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAH14 |
| 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 |
| ENST00000445597 | 10541 | 3507 | 225355640 | 225355730 | 4165 | 4254 | 1388 | 1418 |
| ENST00000445597 | 10541 | 3507 | 225490857 | 225491049 | 6394 | 6585 | 2131 | 2195 |
| 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 |
| ENST00000445597 | 10541 | 3507 | 225355640 | 225355730 | 4165 | 4254 | 1388 | 1418 |
| ENST00000445597 | 10541 | 3507 | 225380397 | 225380613 | 4390 | 4605 | 1463 | 1535 |
| ENST00000445597 | 10541 | 3507 | 225458436 | 225458568 | 5902 | 6033 | 1967 | 2011 |
| ENST00000445597 | 10541 | 3507 | 225490857 | 225491049 | 6394 | 6585 | 2131 | 2195 |
| 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 DNAH14 |
| - 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. |
| - 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 |
| ESCA | TCGA-VR-A8EX-01 | exon_skip_18568 | 225147855 | 225148004 | 225147937 | 225147937 | Frame_Shift_Del | A | - | p.K102fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18571 exon_skip_18572 | 225156461 | 225156576 | 225156484 | 225156484 | Frame_Shift_Del | A | - | p.V225fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18581 | 225190485 | 225190629 | 225190489 | 225190489 | Frame_Shift_Del | T | - | p.F279fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18581 | 225190485 | 225190629 | 225190505 | 225190505 | Frame_Shift_Del | T | - | p.L284fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18581 | 225190485 | 225190629 | 225190626 | 225190626 | Frame_Shift_Del | A | - | p.V324fs |
| COAD | TCGA-CM-6162-01 | exon_skip_18583 | 225211317 | 225211567 | 225211338 | 225211339 | Frame_Shift_Del | AA | - | p.376_377del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18583 | 225211317 | 225211567 | 225211346 | 225211346 | Frame_Shift_Del | T | - | p.Y379fs |
| COAD | TCGA-AU-6004-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E445fs |
| COAD | TCGA-F4-6570-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E445fs |
| LIHC | TCGA-4R-AA8I-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E445fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E445fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E445fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E445fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_18583 | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.K447fs |
| TGCT | TCGA-W4-A7U2-01 | exon_skip_18592 | 225231588 | 225231685 | 225231637 | 225231637 | Frame_Shift_Del | T | - | p.F622fs |
| TGCT | TCGA-W4-A7U3-01 | exon_skip_18592 | 225231588 | 225231685 | 225231637 | 225231637 | Frame_Shift_Del | T | - | p.F622fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18592 | 225231588 | 225231685 | 225231645 | 225231645 | Frame_Shift_Del | A | - | p.V624fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18592 | 225231588 | 225231685 | 225231645 | 225231645 | Frame_Shift_Del | A | - | p.V624fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18592 | 225231588 | 225231685 | 225231674 | 225231674 | Frame_Shift_Del | A | - | p.E634fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18601 | 225268081 | 225268450 | 225268312 | 225268312 | Frame_Shift_Del | A | - | p.K1001fs |
| ESCA | TCGA-R6-A6XQ-01 | exon_skip_18601 | 225268081 | 225268450 | 225268353 | 225268353 | Frame_Shift_Del | T | - | p.W1014fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18601 | 225268081 | 225268450 | 225268445 | 225268445 | Frame_Shift_Del | A | - | p.E1044fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18601 | 225268081 | 225268450 | 225268445 | 225268445 | Frame_Shift_Del | A | - | p.E1044fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18604 | 225288415 | 225288586 | 225288464 | 225288464 | Frame_Shift_Del | A | - | p.K1250fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18606 | 225306922 | 225306996 | 225306969 | 225306969 | Frame_Shift_Del | A | - | p.E1380fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18606 | 225306922 | 225306996 | 225306969 | 225306969 | Frame_Shift_Del | A | - | p.E1380fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18606 | 225306922 | 225306996 | 225306969 | 225306969 | Frame_Shift_Del | A | - | p.E1380fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18607 | 225328470 | 225328723 | 225328500 | 225328500 | Frame_Shift_Del | A | - | p.K1412fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18607 | 225328470 | 225328723 | 225328686 | 225328686 | Frame_Shift_Del | A | - | p.K1474fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18607 | 225328470 | 225328723 | 225328686 | 225328686 | Frame_Shift_Del | A | - | p.L1473fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18642 | 225438358 | 225438405 | 225438391 | 225438391 | Frame_Shift_Del | G | - | p.R2240fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18651 | 225490858 | 225491049 | 225490880 | 225490880 | Frame_Shift_Del | T | - | p.I2792fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18651 | 225490858 | 225491049 | 225491024 | 225491024 | Frame_Shift_Del | A | - | p.E2840fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18657 | 225520993 | 225521208 | 225521046 | 225521046 | Frame_Shift_Del | G | - | p.L3213fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18658 | 225533664 | 225534082 | 225533704 | 225533704 | Frame_Shift_Del | A | - | p.R3480fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_18658 | 225533664 | 225534082 | 225533711 | 225533711 | Frame_Shift_Del | A | - | p.K3483fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18658 | 225533664 | 225534082 | 225533752 | 225533752 | Frame_Shift_Del | A | - | p.T3496fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18659 | 225541505 | 225541590 | 225541586 | 225541586 | Frame_Shift_Del | T | - | p.I3779fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18665 | 225569085 | 225569281 | 225569092 | 225569092 | Frame_Shift_Del | C | - | p.D4194fs |
| ESCA | TCGA-IC-A6RE-01 | exon_skip_18665 | 225569085 | 225569281 | 225569205 | 225569206 | Frame_Shift_Del | GA | - | p.4232_4232del |
| ESCA | TCGA-IC-A6RE-01 | exon_skip_18665 | 225569085 | 225569281 | 225569205 | 225569206 | Frame_Shift_Del | GA | - | p.E4233fs |
| ESCA | TCGA-IC-A6RE-01 | exon_skip_18665 | 225569085 | 225569281 | 225569205 | 225569206 | Frame_Shift_Del | GA | - | p.G4232fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18665 | 225569085 | 225569281 | 225569243 | 225569243 | Frame_Shift_Del | A | - | p.N4245fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18665 | 225569085 | 225569281 | 225569248 | 225569248 | Frame_Shift_Del | T | - | p.S4246fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_18666 | 225576081 | 225576193 | 225576121 | 225576121 | Frame_Shift_Del | T | - | p.I4271fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18666 | 225576081 | 225576193 | 225576121 | 225576121 | Frame_Shift_Del | T | - | p.I4271fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_18667 | 225577436 | 225577575 | 225577494 | 225577494 | Frame_Shift_Del | A | - | p.K4315fs |
| COAD | TCGA-D5-6928-01 | exon_skip_18606 | 225306922 | 225306996 | 225306990 | 225306991 | Frame_Shift_Ins | - | A | p.L1387fs |
| UCEC | TCGA-B5-A11F-01 | exon_skip_18609 | 225334806 | 225334951 | 225334824 | 225334825 | Frame_Shift_Ins | - | A | p.F1588fs |
| UCEC | TCGA-B5-A11F-01 | exon_skip_18610 | 225334806 | 225334957 | 225334824 | 225334825 | Frame_Shift_Ins | - | A | p.F1588fs |
| UCEC | TCGA-B5-A11I-01 | exon_skip_18609 | 225334806 | 225334951 | 225334824 | 225334825 | Frame_Shift_Ins | - | A | p.F1588fs |
| UCEC | TCGA-B5-A11I-01 | exon_skip_18610 | 225334806 | 225334957 | 225334824 | 225334825 | Frame_Shift_Ins | - | A | p.F1588fs |
| UCEC | TCGA-B5-A11Z-01 | exon_skip_18609 | 225334806 | 225334951 | 225334824 | 225334825 | Frame_Shift_Ins | - | A | p.F1588fs |
| UCEC | TCGA-B5-A11Z-01 | exon_skip_18610 | 225334806 | 225334957 | 225334824 | 225334825 | Frame_Shift_Ins | - | A | p.F1588fs |
| UCEC | TCGA-B5-A11F-01 | exon_skip_18609 | 225334806 | 225334951 | 225334828 | 225334829 | Frame_Shift_Ins | - | AT | p.G1589fs |
| UCEC | TCGA-B5-A11F-01 | exon_skip_18610 | 225334806 | 225334957 | 225334828 | 225334829 | Frame_Shift_Ins | - | AT | p.G1589fs |
| UCEC | TCGA-B5-A11I-01 | exon_skip_18609 | 225334806 | 225334951 | 225334828 | 225334829 | Frame_Shift_Ins | - | AT | p.G1589fs |
| UCEC | TCGA-B5-A11I-01 | exon_skip_18610 | 225334806 | 225334957 | 225334828 | 225334829 | Frame_Shift_Ins | - | AT | p.G1589fs |
| UCEC | TCGA-B5-A11Z-01 | exon_skip_18609 | 225334806 | 225334951 | 225334828 | 225334829 | Frame_Shift_Ins | - | AT | p.G1589fs |
| UCEC | TCGA-B5-A11Z-01 | exon_skip_18610 | 225334806 | 225334957 | 225334828 | 225334829 | Frame_Shift_Ins | - | AT | p.G1589fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_18658 | 225533664 | 225534082 | 225533785 | 225533786 | Frame_Shift_Ins | - | A | p.RK3507fs |
| UCEC | TCGA-B5-A11E-01 | exon_skip_18568 | 225147855 | 225148004 | 225147866 | 225147866 | Nonsense_Mutation | G | T | p.E77* |
| CESC | TCGA-EK-A3GJ-01 | exon_skip_18601 | 225268081 | 225268450 | 225268222 | 225268222 | Nonsense_Mutation | C | T | p.Q970* |
| BRCA | TCGA-AN-A0XW-01 | exon_skip_18609 | 225334806 | 225334951 | 225334811 | 225334811 | Nonsense_Mutation | G | T | p.*251L |
| BRCA | TCGA-AN-A0XW-01 | exon_skip_18610 | 225334806 | 225334957 | 225334811 | 225334811 | Nonsense_Mutation | G | T | p.*251L |
| CESC | TCGA-IR-A3LH-01 | exon_skip_18640 | 225394670 | 225394922 | 225394691 | 225394691 | Nonsense_Mutation | G | T | p.E2048* |
| COAD | TCGA-AZ-4315-01 | exon_skip_18646 | 225459608 | 225459775 | 225459761 | 225459761 | Nonsense_Mutation | C | T | p.R2603X |
| - 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 |
| RKO_LARGE_INTESTINE | 225211317 | 225211567 | 225211543 | 225211543 | Frame_Shift_Del | A | - | p.E464fs |
| EPLC272H_LUNG | 225268081 | 225268450 | 225268248 | 225268248 | Frame_Shift_Del | G | - | p.V912fs |
| CAL51_BREAST | 225341452 | 225341528 | 225341512 | 225341512 | Frame_Shift_Del | A | - | p.K1326fs |
| COGAR359_SOFT_TISSUE | 225394670 | 225394922 | 225394882 | 225394882 | Frame_Shift_Del | T | - | p.A1706fs |
| EN_ENDOMETRIUM | 225211317 | 225211567 | 225211542 | 225211543 | Frame_Shift_Ins | - | A | p.E464fs |
| TOV21G_OVARY | 225211317 | 225211567 | 225211542 | 225211543 | Frame_Shift_Ins | - | A | p.E464fs |
| CJM_SKIN | 225211317 | 225211567 | 225211404 | 225211404 | Missense_Mutation | C | T | p.R418C |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225211317 | 225211567 | 225211413 | 225211413 | Missense_Mutation | G | C | p.E421Q |
| COLO320_LARGE_INTESTINE | 225211317 | 225211567 | 225211450 | 225211450 | Missense_Mutation | T | G | p.I433R |
| STS0421_SOFT_TISSUE | 225211317 | 225211567 | 225211467 | 225211467 | Missense_Mutation | C | G | p.R439G |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225211317 | 225211567 | 225211489 | 225211489 | Missense_Mutation | T | A | p.V446D |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225211317 | 225211567 | 225211515 | 225211515 | Missense_Mutation | G | T | p.G455C |
| HEC108_ENDOMETRIUM | 225211317 | 225211567 | 225211522 | 225211522 | Missense_Mutation | C | T | p.A457V |
| NCIH1770_LUNG | 225237912 | 225238078 | 225237939 | 225237939 | Missense_Mutation | C | T | p.P618L |
| ECC10_STOMACH | 225237912 | 225238078 | 225237991 | 225237991 | Missense_Mutation | G | T | p.K635N |
| HCC1569_BREAST | 225237912 | 225238078 | 225238044 | 225238044 | Missense_Mutation | T | C | p.I653T |
| NCIH358_LUNG | 225237912 | 225238078 | 225238046 | 225238046 | Missense_Mutation | C | A | p.L654I |
| EMCBAC1_LUNG | 225268081 | 225268450 | 225268090 | 225268090 | Missense_Mutation | C | T | p.P860S |
| NB6_AUTONOMIC_GANGLIA | 225268081 | 225268450 | 225268097 | 225268097 | Missense_Mutation | T | A | p.L862Q |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225268081 | 225268450 | 225268137 | 225268137 | Missense_Mutation | G | A | p.M875I |
| KMRC20_KIDNEY | 225268081 | 225268450 | 225268278 | 225268278 | Missense_Mutation | G | T | p.E922D |
| NCIH187_LUNG | 225328470 | 225328723 | 225328491 | 225328491 | Missense_Mutation | G | A | p.D1025N |
| NCIH650_LUNG | 225328470 | 225328723 | 225328548 | 225328548 | Missense_Mutation | G | T | p.A1044S |
| NCIH1339_LUNG | 225328470 | 225328723 | 225328566 | 225328566 | Missense_Mutation | C | G | p.L1050V |
| NMCG1_CENTRAL_NERVOUS_SYSTEM | 225328470 | 225328723 | 225328612 | 225328612 | Missense_Mutation | G | A | p.R1065Q |
| NCIH2291_LUNG | 225328470 | 225328723 | 225328630 | 225328630 | Missense_Mutation | G | T | p.G1071V |
| NCIH2347_LUNG | 225328470 | 225328723 | 225328660 | 225328660 | Missense_Mutation | G | C | p.R1081T |
| KINGS1_CENTRAL_NERVOUS_SYSTEM | 225328470 | 225328723 | 225328720 | 225328720 | Missense_Mutation | C | A | p.T1101K |
| NCIH2171_LUNG | 225341452 | 225341528 | 225341499 | 225341499 | Missense_Mutation | G | T | p.M1321I |
| COLO741_SKIN | 225347016 | 225347187 | 225347090 | 225347090 | Missense_Mutation | C | T | p.P1356L |
| COLO741_SKIN | 225347031 | 225347187 | 225347090 | 225347090 | Missense_Mutation | C | T | p.P1356L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225347016 | 225347187 | 225347140 | 225347140 | Missense_Mutation | A | G | p.I1373V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225347031 | 225347187 | 225347140 | 225347140 | Missense_Mutation | A | G | p.I1373V |
| SISO_CERVIX | 225394670 | 225394922 | 225394700 | 225394700 | Missense_Mutation | G | C | p.V1646L |
| RKN_SOFT_TISSUE | 225394670 | 225394922 | 225394700 | 225394700 | Missense_Mutation | G | C | p.V1646L |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225394670 | 225394922 | 225394700 | 225394700 | Missense_Mutation | G | C | p.V1646L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225394670 | 225394922 | 225394779 | 225394779 | Missense_Mutation | G | A | p.S1672N |
| MEWO_SKIN | 225394670 | 225394922 | 225394811 | 225394811 | Missense_Mutation | C | T | p.R1683C |
| NY_BONE | 225394670 | 225394922 | 225394902 | 225394902 | Missense_Mutation | A | T | p.K1713I |
| GP5D_LARGE_INTESTINE | 225418775 | 225418853 | 225418813 | 225418813 | Missense_Mutation | T | C | p.S1733P |
| 639V_URINARY_TRACT | 225440003 | 225440119 | 225440080 | 225440080 | Missense_Mutation | T | A | p.S1849T |
| K2_SKIN | 225490858 | 225491049 | 225490867 | 225490867 | Missense_Mutation | A | G | p.K2135E |
| NCIH630_LARGE_INTESTINE | 225490858 | 225491049 | 225490891 | 225490891 | Missense_Mutation | A | G | p.M2143V |
| HCT15_LARGE_INTESTINE | 225490858 | 225491049 | 225490895 | 225490895 | Missense_Mutation | G | T | p.S2144I |
| SW982_SOFT_TISSUE | 225490858 | 225491049 | 225490897 | 225490897 | Missense_Mutation | C | T | p.P2145S |
| NCIH1651_LUNG | 225490858 | 225491049 | 225490918 | 225490918 | Missense_Mutation | C | G | p.Q2152E |
| 5637_URINARY_TRACT | 225490858 | 225491049 | 225490928 | 225490928 | Missense_Mutation | G | C | p.R2155T |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225490858 | 225491049 | 225491014 | 225491014 | Missense_Mutation | T | C | p.F2184L |
| MZ2MEL_SKIN | 225490858 | 225491049 | 225491023 | 225491023 | Missense_Mutation | G | A | p.E2187K |
| 2313287_STOMACH | 225506285 | 225506379 | 225506329 | 225506329 | Missense_Mutation | G | T | p.K2349N |
| NCIH146_LUNG | 225533664 | 225534082 | 225533678 | 225533678 | Missense_Mutation | G | T | p.D2669Y |
| HCT15_LARGE_INTESTINE | 225533664 | 225534082 | 225533742 | 225533742 | Missense_Mutation | T | A | p.I2690N |
| PC9_LUNG | 225533664 | 225534082 | 225533816 | 225533816 | Missense_Mutation | G | T | p.A2715S |
| HCC1187_BREAST | 225533664 | 225534082 | 225533867 | 225533867 | Missense_Mutation | C | A | p.Q2732K |
| SUIT2_PANCREAS | 225569085 | 225569281 | 225569090 | 225569090 | Missense_Mutation | G | A | p.D3186N |
| CHLA15_AUTONOMIC_GANGLIA | 225569085 | 225569281 | 225569155 | 225569155 | Missense_Mutation | A | T | p.L3207F |
| MDAMB231_BREAST | 225569085 | 225569281 | 225569220 | 225569220 | Missense_Mutation | C | T | p.T3229I |
| NCIH1930_LUNG | 225569085 | 225569281 | 225569245 | 225569245 | Missense_Mutation | C | A | p.N3237K |
| ESS1_ENDOMETRIUM | 225576081 | 225576193 | 225576094 | 225576094 | Missense_Mutation | G | A | p.R3254K |
| HKA1_SKIN | 225576081 | 225576193 | 225576152 | 225576152 | Missense_Mutation | C | A | p.F3273L |
| D263MG_CENTRAL_NERVOUS_SYSTEM | 225211317 | 225211567 | 225211346 | 225211346 | Nonsense_Mutation | T | A | p.Y398* |
| LN18_CENTRAL_NERVOUS_SYSTEM | 225268081 | 225268450 | 225268261 | 225268261 | Nonsense_Mutation | C | T | p.Q917* |
| NCIH226_LUNG | 225328470 | 225328723 | 225328649 | 225328649 | Nonsense_Mutation | T | G | p.Y1077* |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225533664 | 225534082 | 225533744 | 225533744 | Nonsense_Mutation | G | T | p.E2691* |
| SKUT1_SOFT_TISSUE | 225576081 | 225576193 | 225576138 | 225576138 | Nonsense_Mutation | C | T | p.R3269* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH14 |
| 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 DNAH14 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH14 |
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RelatedDrugs for DNAH14 |
| 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 DNAH14 |
| 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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