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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 IAH1 |
 Gene summary |
| Gene information | Gene symbol | IAH1 | Gene ID | 285148 |
| Gene name | isoamyl acetate hydrolyzing esterase 1 (putative) | |
| Synonyms | - | |
| Cytomap | 2p25.1 | |
| Type of gene | protein-coding | |
| Description | isoamyl acetate-hydrolyzing esterase 1 homologtesticular tissue protein Li 92 | |
| Modification date | 20180519 | |
| UniProtAcc | Q2TAA2 | |
| Context | PubMed: IAH1 [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 IAH1 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 IAH1 |
| 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 IAH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323310 | 2 | 9613946:9614028:9616115:9616168:9618350:9618499 | 9616115:9616168 | ENSG00000134330.14 | ENST00000482918.1 |
| exon_skip_323317 | 2 | 9614706:9614776:9616115:9616168:9618350:9618395 | 9616115:9616168 | ENSG00000134330.14 | ENST00000497473.1 |
| exon_skip_323318 | 2 | 9614667:9614776:9616115:9616168:9618382:9618395 | 9616115:9616168 | ENSG00000134330.14 | ENST00000351760.7 |
| exon_skip_323323 | 2 | 9614706:9614776:9618350:9618499:9621414:9621576 | 9618350:9618499 | ENSG00000134330.14 | ENST00000470914.1,ENST00000545602.1,ENST00000495050.1,ENST00000481367.1 |
| exon_skip_323324 | 2 | 9614706:9614776:9618382:9618499:9621414:9621576 | 9618382:9618499 | ENSG00000134330.14 | ENST00000492223.1 |
| exon_skip_323326 | 2 | 9616115:9616168:9618350:9618499:9621414:9621576 | 9618350:9618499 | ENSG00000134330.14 | ENST00000495494.1,ENST00000497473.1,ENST00000482918.1,ENST00000489468.1,ENST00000481688.1 |
| exon_skip_323327 | 2 | 9616115:9616168:9618382:9618499:9621414:9621576 | 9618382:9618499 | ENSG00000134330.14 | ENST00000351760.7 |
| exon_skip_323329 | 2 | 9621414:9621576:9624560:9624679:9628275:9628366 | 9624560:9624679 | ENSG00000134330.14 | ENST00000497473.1,ENST00000484826.1,ENST00000482918.1,ENST00000470914.1,ENST00000492223.1,ENST00000481688.1,ENST00000545602.1,ENST00000351760.7,ENST00000481367.1,ENST00000487850.1 |
| exon_skip_323332 | 2 | 9624560:9624679:9627584:9627676:9628275:9628366 | 9627584:9627676 | ENSG00000134330.14 | ENST00000489468.1 |
| exon_skip_323335 | 2 | 9624560:9624679:9628275:9628521:9634830:9634989 | 9628275:9628521 | ENSG00000134330.14 | ENST00000545602.1,ENST00000481367.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IAH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323310 | 2 | 9613946:9614028:9616115:9616168:9618350:9618499 | 9616115:9616168 | ENSG00000134330.14 | ENST00000482918.1 |
| exon_skip_323317 | 2 | 9614706:9614776:9616115:9616168:9618350:9618395 | 9616115:9616168 | ENSG00000134330.14 | ENST00000497473.1 |
| exon_skip_323318 | 2 | 9614667:9614776:9616115:9616168:9618382:9618395 | 9616115:9616168 | ENSG00000134330.14 | ENST00000351760.7 |
| exon_skip_323323 | 2 | 9614706:9614776:9618350:9618499:9621414:9621576 | 9618350:9618499 | ENSG00000134330.14 | ENST00000470914.1,ENST00000495050.1,ENST00000481367.1,ENST00000545602.1 |
| exon_skip_323324 | 2 | 9614706:9614776:9618382:9618499:9621414:9621576 | 9618382:9618499 | ENSG00000134330.14 | ENST00000492223.1 |
| exon_skip_323326 | 2 | 9616115:9616168:9618350:9618499:9621414:9621576 | 9618350:9618499 | ENSG00000134330.14 | ENST00000482918.1,ENST00000497473.1,ENST00000481688.1,ENST00000489468.1,ENST00000495494.1 |
| exon_skip_323327 | 2 | 9616115:9616168:9618382:9618499:9621414:9621576 | 9618382:9618499 | ENSG00000134330.14 | ENST00000351760.7 |
| exon_skip_323329 | 2 | 9621414:9621576:9624560:9624679:9628275:9628366 | 9624560:9624679 | ENSG00000134330.14 | ENST00000482918.1,ENST00000497473.1,ENST00000470914.1,ENST00000492223.1,ENST00000481367.1,ENST00000545602.1,ENST00000351760.7,ENST00000481688.1,ENST00000487850.1,ENST00000484826.1 |
| exon_skip_323332 | 2 | 9624560:9624679:9627584:9627676:9628275:9628366 | 9627584:9627676 | ENSG00000134330.14 | ENST00000489468.1 |
| exon_skip_323335 | 2 | 9624560:9624679:9628275:9628521:9634830:9634989 | 9628275:9628521 | ENSG00000134330.14 | ENST00000481367.1,ENST00000545602.1 |
| 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 IAH1 |
| 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 |
| ENST00000497473 | 9616115 | 9616168 | Frame-shift |
| ENST00000497473 | 9618350 | 9618499 | Frame-shift |
| ENST00000497473 | 9624560 | 9624679 | Frame-shift |
| 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 |
| ENST00000497473 | 9616115 | 9616168 | Frame-shift |
| ENST00000497473 | 9618350 | 9618499 | Frame-shift |
| ENST00000497473 | 9624560 | 9624679 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IAH1 |
| 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 |
| 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 |
| 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 IAH1 |
| - 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_323335 | 9628276 | 9628521 | 9628363 | 9628363 | Frame_Shift_Del | A | - | p.K106fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_323335 | 9628276 | 9628521 | 9628363 | 9628363 | Frame_Shift_Del | A | - | p.E217fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_323335 | 9628276 | 9628521 | 9628363 | 9628363 | Frame_Shift_Del | A | - | p.K106fs |
| HNSC | TCGA-CV-7435-01 | exon_skip_323335 | 9628276 | 9628521 | 9628388 | 9628388 | Frame_Shift_Del | T | - | p.L114fs |
| HNSC | TCGA-CV-7435-01 | exon_skip_323335 | 9628276 | 9628521 | 9628388 | 9628388 | Frame_Shift_Del | T | - | p.L226fs |
| HNSC | TCGA-CX-7086-01 | exon_skip_323329 | 9624561 | 9624679 | 9624665 | 9624666 | Frame_Shift_Ins | - | T | p.A71fs |
| HNSC | TCGA-CX-7086-01 | exon_skip_323329 | 9624561 | 9624679 | 9624665 | 9624666 | Frame_Shift_Ins | - | T | p.M184fs |
| BLCA | TCGA-DK-A6B6-01 | exon_skip_323310 exon_skip_323317 exon_skip_323318 | 9616116 | 9616168 | 9616125 | 9616125 | Nonsense_Mutation | C | T | p.Q31* |
| ESCA | TCGA-2H-A9GO-01 | exon_skip_323326 exon_skip_323327 exon_skip_323324 exon_skip_323323 | 9618383 | 9618499 | 9618381 | 9618381 | Splice_Site | A | G | e2-2 |
| - 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 |
| A2058_SKIN | 9618351 | 9618499 | 9618446 | 9618447 | Frame_Shift_Del | AC | - | p.D77fs |
| A2058_SKIN | 9618383 | 9618499 | 9618446 | 9618447 | Frame_Shift_Del | AC | - | p.D77fs |
| A2058_SKIN | 9618351 | 9618499 | 9618439 | 9618440 | Frame_Shift_Ins | - | GTTTG | p.-76fs |
| A2058_SKIN | 9618383 | 9618499 | 9618439 | 9618440 | Frame_Shift_Ins | - | GTTTG | p.-76fs |
| A2058_SKIN | 9618351 | 9618499 | 9618447 | 9618448 | Frame_Shift_Ins | - | TTTGGTT | p.I78fs |
| A2058_SKIN | 9618383 | 9618499 | 9618447 | 9618448 | Frame_Shift_Ins | - | TTTGGTT | p.I78fs |
| JHOS2_OVARY | 9624561 | 9624679 | 9624586 | 9624588 | In_Frame_Del | TGT | - | p.V159del |
| TT_OESOPHAGUS | 9624561 | 9624679 | 9624586 | 9624588 | In_Frame_Del | TGT | - | p.V159del |
| MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9616116 | 9616168 | 9616126 | 9616126 | Missense_Mutation | A | G | p.Q31R |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 9616116 | 9616168 | 9616155 | 9616155 | Missense_Mutation | G | A | p.D41N |
| A2058_SKIN | 9618351 | 9618499 | 9618446 | 9618446 | Missense_Mutation | A | T | p.D77V |
| A2058_SKIN | 9618383 | 9618499 | 9618446 | 9618446 | Missense_Mutation | A | T | p.D77V |
| HCC2450_LUNG | 9618351 | 9618499 | 9618484 | 9618484 | Missense_Mutation | G | A | p.D90N |
| HCC2450_LUNG | 9618383 | 9618499 | 9618484 | 9618484 | Missense_Mutation | G | A | p.D90N |
| ES5_BONE | 9624561 | 9624679 | 9624644 | 9624644 | Missense_Mutation | G | A | p.V177I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IAH1 |
| 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 IAH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IAH1 |
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RelatedDrugs for IAH1 |
| 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 IAH1 |
| 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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