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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 ATAD5 |
 Gene summary |
| Gene information | Gene symbol | ATAD5 | Gene ID | 79915 |
| Gene name | ATPase family, AAA domain containing 5 | |
| Synonyms | C17orf41|ELG1|FRAG1 | |
| Cytomap | 17q11.2 | |
| Type of gene | protein-coding | |
| Description | ATPase family AAA domain-containing protein 5chromosome fragility associated gene 1chromosome fragility-associated gene 1 proteinenhanced level of genomic instability 1 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q96QE3 | |
| Context | PubMed: ATAD5 [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 ATAD5 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 ATAD5 |
| 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 ATAD5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150583 | 17 | 29170930:29171057:29171852:29171934:29182160:29182345 | 29171852:29171934 | ENSG00000176208.4 | ENST00000585133.1,ENST00000321990.4,ENST00000578295.1 |
| exon_skip_150586 | 17 | 29185178:29185341:29187450:29187630:29192721:29192818 | 29187450:29187630 | ENSG00000176208.4 | ENST00000585133.1,ENST00000321990.4,ENST00000578295.1 |
| exon_skip_150587 | 17 | 29187450:29187630:29192721:29192818:29195350:29195430 | 29192721:29192818 | ENSG00000176208.4 | ENST00000585133.1,ENST00000321990.4,ENST00000578295.1 |
| exon_skip_150588 | 17 | 29196513:29196664:29203391:29203568:29204433:29204567 | 29203391:29203568 | ENSG00000176208.4 | ENST00000321990.4 |
| exon_skip_150589 | 17 | 29205020:29205114:29206440:29206505:29214209:29214390 | 29206440:29206505 | ENSG00000176208.4 | ENST00000321990.4 |
| exon_skip_150590 | 17 | 29206440:29206505:29214209:29214390:29219624:29219806 | 29214209:29214390 | ENSG00000176208.4 | ENST00000321990.4 |
| exon_skip_150591 | 17 | 29219624:29219806:29220311:29221168:29221581:29221740 | 29220311:29221168 | ENSG00000176208.4 | ENST00000321990.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATAD5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150583 | 17 | 29170930:29171057:29171852:29171934:29182160:29182345 | 29171852:29171934 | ENSG00000176208.4 | ENST00000578295.1,ENST00000321990.4,ENST00000585133.1 |
| exon_skip_150586 | 17 | 29185178:29185341:29187450:29187630:29192721:29192818 | 29187450:29187630 | ENSG00000176208.4 | ENST00000578295.1,ENST00000321990.4,ENST00000585133.1 |
| exon_skip_150587 | 17 | 29187450:29187630:29192721:29192818:29195350:29195430 | 29192721:29192818 | ENSG00000176208.4 | ENST00000578295.1,ENST00000321990.4,ENST00000585133.1 |
| exon_skip_150588 | 17 | 29196513:29196664:29203391:29203568:29204433:29204567 | 29203391:29203568 | ENSG00000176208.4 | ENST00000321990.4 |
| exon_skip_150589 | 17 | 29205020:29205114:29206440:29206505:29214209:29214390 | 29206440:29206505 | ENSG00000176208.4 | ENST00000321990.4 |
| exon_skip_150590 | 17 | 29206440:29206505:29214209:29214390:29219624:29219806 | 29214209:29214390 | ENSG00000176208.4 | ENST00000321990.4 |
| exon_skip_150591 | 17 | 29219624:29219806:29220311:29221168:29221581:29221740 | 29220311:29221168 | ENSG00000176208.4 | ENST00000321990.4 |
| 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 ATAD5 |
| 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 |
| ENST00000321990 | 29171852 | 29171934 | Frame-shift |
| ENST00000321990 | 29192721 | 29192818 | Frame-shift |
| ENST00000321990 | 29206440 | 29206505 | Frame-shift |
| ENST00000321990 | 29214209 | 29214390 | Frame-shift |
| ENST00000321990 | 29220311 | 29221168 | Frame-shift |
| ENST00000321990 | 29187450 | 29187630 | In-frame |
| ENST00000321990 | 29203391 | 29203568 | 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 |
| ENST00000321990 | 29171852 | 29171934 | Frame-shift |
| ENST00000321990 | 29192721 | 29192818 | Frame-shift |
| ENST00000321990 | 29206440 | 29206505 | Frame-shift |
| ENST00000321990 | 29214209 | 29214390 | Frame-shift |
| ENST00000321990 | 29220311 | 29221168 | Frame-shift |
| ENST00000321990 | 29187450 | 29187630 | In-frame |
| ENST00000321990 | 29203391 | 29203568 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATAD5 |
| 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 |
| ENST00000321990 | 6886 | 1844 | 29187450 | 29187630 | 3335 | 3514 | 985 | 1045 |
| ENST00000321990 | 6886 | 1844 | 29203391 | 29203568 | 3986 | 4162 | 1202 | 1261 |
| 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 |
| ENST00000321990 | 6886 | 1844 | 29187450 | 29187630 | 3335 | 3514 | 985 | 1045 |
| ENST00000321990 | 6886 | 1844 | 29203391 | 29203568 | 3986 | 4162 | 1202 | 1261 |
| 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 |
| Q96QE3 | 985 | 1045 | 1 | 1844 | Chain | ID=PRO_0000317618;Note=ATPase family AAA domain-containing protein 5 |
| Q96QE3 | 1202 | 1261 | 1205 | 1844 | Alternative sequence | ID=VSP_031097;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96QE3 | 1202 | 1261 | 1 | 1844 | Chain | ID=PRO_0000317618;Note=ATPase family AAA domain-containing protein 5 |
| Q96QE3 | 1202 | 1261 | 1203 | 1203 | Sequence conflict | Note=K->S;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 |
| Q96QE3 | 985 | 1045 | 1 | 1844 | Chain | ID=PRO_0000317618;Note=ATPase family AAA domain-containing protein 5 |
| Q96QE3 | 1202 | 1261 | 1205 | 1844 | Alternative sequence | ID=VSP_031097;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96QE3 | 1202 | 1261 | 1 | 1844 | Chain | ID=PRO_0000317618;Note=ATPase family AAA domain-containing protein 5 |
| Q96QE3 | 1202 | 1261 | 1203 | 1203 | Sequence conflict | Note=K->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for ATAD5 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_150583 | 29171853 | 29171934 | 29171920 | 29171920 | Frame_Shift_Del | T | - | p.S812fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_150586 | 29187451 | 29187630 | 29187483 | 29187483 | Frame_Shift_Del | A | - | p.K997fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_150586 | 29187451 | 29187630 | 29187545 | 29187545 | Frame_Shift_Del | A | - | p.S1017fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_150586 | 29187451 | 29187630 | 29187570 | 29187570 | Frame_Shift_Del | A | - | p.K1026fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_150587 | 29192722 | 29192818 | 29192804 | 29192804 | Frame_Shift_Del | A | - | p.I1073fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_150588 | 29203392 | 29203568 | 29203453 | 29203453 | Frame_Shift_Del | A | - | p.P1223fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_150591 | 29220312 | 29221168 | 29220315 | 29220315 | Frame_Shift_Del | A | - | p.K1482fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_150591 | 29220312 | 29221168 | 29220386 | 29220386 | Frame_Shift_Del | T | - | p.D1505fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_150591 | 29220312 | 29221168 | 29220494 | 29220494 | Frame_Shift_Del | A | - | p.T1541fs |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_150591 | 29220312 | 29221168 | 29220513 | 29220513 | Frame_Shift_Del | G | - | p.A1548fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_150591 | 29220312 | 29221168 | 29220717 | 29220721 | Frame_Shift_Del | AAAGG | - | p.KG1616fs |
| LGG | TCGA-P5-A77X-01 | exon_skip_150591 | 29220312 | 29221168 | 29220737 | 29220740 | Frame_Shift_Del | AAAG | - | p.TK1622fs |
| COAD | TCGA-AA-3663-01 | exon_skip_150591 | 29220312 | 29221168 | 29220776 | 29220776 | Frame_Shift_Del | A | - | p.G1635fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_150591 | 29220312 | 29221168 | 29220776 | 29220776 | Frame_Shift_Del | A | - | p.G1635fs |
| SKCM | TCGA-EE-A29N-06 | exon_skip_150591 | 29220312 | 29221168 | 29220806 | 29220806 | Frame_Shift_Del | T | - | p.C1645fs |
| HNSC | TCGA-BB-A5HY-01 | exon_skip_150587 | 29192722 | 29192818 | 29192759 | 29192760 | Frame_Shift_Ins | - | CAAC | p.*T1058fs |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_150591 | 29220312 | 29221168 | 29220775 | 29220776 | Frame_Shift_Ins | - | A | p.E1635fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_150591 | 29220312 | 29221168 | 29220775 | 29220776 | Frame_Shift_Ins | - | A | p.E1635fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_150591 | 29220312 | 29221168 | 29220775 | 29220776 | Frame_Shift_Ins | - | A | p.G1635fs |
| LIHC | TCGA-ZS-A9CE-01 | exon_skip_150586 | 29187451 | 29187630 | 29187555 | 29187555 | Nonsense_Mutation | G | T | p.E1021X |
| BLCA | TCGA-DK-AA75-01 | exon_skip_150586 | 29187451 | 29187630 | 29187576 | 29187576 | Nonsense_Mutation | G | T | p.E1028* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_150586 | 29187451 | 29187630 | 29187579 | 29187579 | Nonsense_Mutation | G | T | p.E1029* |
| LUSC | TCGA-66-2794-01 | exon_skip_150587 | 29192722 | 29192818 | 29192760 | 29192760 | Nonsense_Mutation | C | T | p.Q1059* |
| LUSC | TCGA-66-2794-01 | exon_skip_150587 | 29192722 | 29192818 | 29192766 | 29192766 | Nonsense_Mutation | C | T | p.Q1061* |
| UCEC | TCGA-B5-A11N-01 | exon_skip_150588 | 29203392 | 29203568 | 29203538 | 29203538 | Nonsense_Mutation | G | T | p.E1252* |
| UCEC | TCGA-B5-A11Y-01 | exon_skip_150590 | 29214210 | 29214390 | 29214372 | 29214372 | Nonsense_Mutation | C | T | p.R1414* |
| STAD | TCGA-BR-7703-01 | exon_skip_150591 | 29220312 | 29221168 | 29220338 | 29220338 | Nonsense_Mutation | G | A | p.W1489* |
| STAD | TCGA-BR-7703-01 | exon_skip_150591 | 29220312 | 29221168 | 29220338 | 29220338 | Nonsense_Mutation | G | A | p.W1489X |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_150591 | 29220312 | 29221168 | 29220519 | 29220519 | Nonsense_Mutation | A | T | p.K1550* |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_150591 | 29220312 | 29221168 | 29220519 | 29220519 | Nonsense_Mutation | A | T | p.K1550X |
| CHOL | TCGA-W5-AA39-01 | exon_skip_150591 | 29220312 | 29221168 | 29220580 | 29220580 | Nonsense_Mutation | T | A | p.L1570* |
| CHOL | TCGA-W5-AA39-01 | exon_skip_150591 | 29220312 | 29221168 | 29220580 | 29220580 | Nonsense_Mutation | T | A | p.L1570X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_150591 | 29220312 | 29221168 | 29221045 | 29221045 | Nonsense_Mutation | C | A | p.S1725* |
| COAD | TCGA-AZ-4615-01 | exon_skip_150590 | 29214210 | 29214390 | 29214208 | 29214208 | Splice_Site | A | G | . |
| ESCA | TCGA-R6-A6XQ-01 | exon_skip_150590 | 29214210 | 29214390 | 29214209 | 29214209 | Splice_Site | G | T | . |
| ESCA | TCGA-R6-A6XQ-01 | exon_skip_150590 | 29214210 | 29214390 | 29214209 | 29214209 | Splice_Site | G | T | e19-1 |
| UCEC | TCGA-B5-A11E-01 | exon_skip_150590 | 29214210 | 29214390 | 29214209 | 29214209 | Splice_Site | G | T | e19-1 |
| BLCA | TCGA-GD-A3OP-01 | exon_skip_150591 | 29220312 | 29221168 | 29220310 | 29220310 | Splice_Site | A | T | p.H1481_splice |
| - 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 |
| HEC265_ENDOMETRIUM | 29220312 | 29221168 | 29220546 | 29220546 | Frame_Shift_Del | A | - | p.K1560fs |
| MFE319_ENDOMETRIUM | 29220312 | 29221168 | 29220546 | 29220546 | Frame_Shift_Del | A | - | p.K1560fs |
| JHUEM1_ENDOMETRIUM | 29220312 | 29221168 | 29220911 | 29220911 | Frame_Shift_Del | A | - | p.T1680fs |
| 22RV1_PROSTATE | 29187451 | 29187630 | 29187544 | 29187545 | Frame_Shift_Ins | - | A | p.SK1017fs |
| CW2_LARGE_INTESTINE | 29220312 | 29221168 | 29220775 | 29220776 | Frame_Shift_Ins | - | A | p.GK1635fs |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29171853 | 29171934 | 29171864 | 29171864 | Missense_Mutation | G | A | p.V794I |
| MSTO211H_PLEURA | 29171853 | 29171934 | 29171895 | 29171895 | Missense_Mutation | A | G | p.Q804R |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29187451 | 29187630 | 29187541 | 29187541 | Missense_Mutation | A | G | p.Y1016C |
| SKMEL31_SKIN | 29192722 | 29192818 | 29192725 | 29192725 | Missense_Mutation | C | T | p.S1047F |
| A431_SKIN | 29203392 | 29203568 | 29203425 | 29203425 | Missense_Mutation | C | T | p.S1214L |
| JAR_PLACENTA | 29203392 | 29203568 | 29203451 | 29203451 | Missense_Mutation | C | T | p.P1223S |
| BICR16_UPPER_AERODIGESTIVE_TRACT | 29206441 | 29206505 | 29206479 | 29206479 | Missense_Mutation | G | C | p.E1351Q |
| KYSE270_OESOPHAGUS | 29206441 | 29206505 | 29206501 | 29206501 | Missense_Mutation | C | A | p.S1358Y |
| IM95_STOMACH | 29214210 | 29214390 | 29214373 | 29214373 | Missense_Mutation | G | A | p.R1414Q |
| HEC251_ENDOMETRIUM | 29220312 | 29221168 | 29220332 | 29220332 | Missense_Mutation | A | C | p.E1487D |
| SNU81_LARGE_INTESTINE | 29220312 | 29221168 | 29220357 | 29220357 | Missense_Mutation | C | T | p.L1496F |
| NCIH526_LUNG | 29220312 | 29221168 | 29220439 | 29220439 | Missense_Mutation | C | G | p.P1523R |
| A431_SKIN | 29220312 | 29221168 | 29220466 | 29220466 | Missense_Mutation | C | T | p.S1532L |
| HEC59_ENDOMETRIUM | 29220312 | 29221168 | 29220576 | 29220576 | Missense_Mutation | A | G | p.T1569A |
| SNU182_LIVER | 29220312 | 29221168 | 29220615 | 29220615 | Missense_Mutation | G | C | p.D1582H |
| IGROV1_OVARY | 29220312 | 29221168 | 29220708 | 29220708 | Missense_Mutation | G | A | p.A1613T |
| JHH4_LIVER | 29220312 | 29221168 | 29220793 | 29220793 | Missense_Mutation | T | C | p.L1641P |
| SNU81_LARGE_INTESTINE | 29220312 | 29221168 | 29220814 | 29220814 | Missense_Mutation | C | A | p.S1648Y |
| MDAMB415_BREAST | 29220312 | 29221168 | 29220892 | 29220892 | Missense_Mutation | G | A | p.R1674K |
| SW756_CERVIX | 29220312 | 29221168 | 29220944 | 29220944 | Missense_Mutation | G | C | p.E1691D |
| BT474_BREAST | 29220312 | 29221168 | 29220954 | 29220954 | Missense_Mutation | G | C | p.E1695Q |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29220312 | 29221168 | 29221018 | 29221018 | Missense_Mutation | G | T | p.S1716I |
| HCC44_LUNG | 29220312 | 29221168 | 29221087 | 29221087 | Missense_Mutation | G | C | p.R1739T |
| NCIBL2009_MATCHED_NORMAL_TISSUE | 29220312 | 29221168 | 29221087 | 29221087 | Missense_Mutation | G | C | p.R1739T |
| RCCFG2_KIDNEY | 29220312 | 29221168 | 29221114 | 29221114 | Missense_Mutation | A | G | p.Y1748C |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29220312 | 29221168 | 29221129 | 29221129 | Missense_Mutation | G | A | p.R1753H |
| FADU_UPPER_AERODIGESTIVE_TRACT | 29220312 | 29221168 | 29221129 | 29221129 | Missense_Mutation | G | A | p.R1753H |
| HEC251_ENDOMETRIUM | 29206441 | 29206505 | 29206479 | 29206479 | Nonsense_Mutation | G | T | p.E1351* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATAD5 |
| 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 ATAD5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATAD5 |
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RelatedDrugs for ATAD5 |
| 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 ATAD5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATAD5 | C0677886 | Epithelial ovarian cancer | 1 | CTD_human |
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