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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 GHITM |
 Gene summary |
| Gene information | Gene symbol | GHITM | Gene ID | 27069 |
| Gene name | growth hormone inducible transmembrane protein | |
| Synonyms | DERP2|HSPC282|MICS1|My021|PTD010|TMBIM5 | |
| Cytomap | 10q23.1 | |
| Type of gene | protein-coding | |
| Description | growth hormone-inducible transmembrane proteindermal papilla-derived protein 2mitochondrial morphology and cristae structure 1transmembrane BAX inhibitor motif containing 5transmembrane BAX inhibitor motif-containing protein 5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H3K2 | |
| Context | PubMed: GHITM [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 GHITM 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 GHITM |
| 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 GHITM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43439 | 10 | 85903750:85903862:85904630:85904772:85908485:85908594 | 85904630:85904772 | ENSG00000165678.15 | ENST00000372134.3 |
| exon_skip_43443 | 10 | 85908485:85908594:85909810:85909999:85910464:85910636 | 85909810:85909999 | ENSG00000165678.15 | ENST00000372134.3 |
| exon_skip_43445 | 10 | 85909810:85909999:85910464:85910636:85912019:85913001 | 85910464:85910636 | ENSG00000165678.15 | ENST00000372134.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GHITM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43439 | 10 | 85903750:85903862:85904630:85904772:85908485:85908594 | 85904630:85904772 | ENSG00000165678.15 | ENST00000372134.3 |
| exon_skip_43443 | 10 | 85908485:85908594:85909810:85909999:85910464:85910636 | 85909810:85909999 | ENSG00000165678.15 | ENST00000372134.3 |
| exon_skip_43445 | 10 | 85909810:85909999:85910464:85910636:85912019:85913001 | 85910464:85910636 | ENSG00000165678.15 | ENST00000372134.3 |
| 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 GHITM |
| 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 |
| ENST00000372134 | 85904630 | 85904772 | Frame-shift |
| ENST00000372134 | 85910464 | 85910636 | Frame-shift |
| ENST00000372134 | 85909810 | 85909999 | 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 |
| ENST00000372134 | 85904630 | 85904772 | Frame-shift |
| ENST00000372134 | 85910464 | 85910636 | Frame-shift |
| ENST00000372134 | 85909810 | 85909999 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GHITM |
| 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 |
| ENST00000372134 | 2145 | 345 | 85909810 | 85909999 | 786 | 974 | 197 | 260 |
| 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 |
| ENST00000372134 | 2145 | 345 | 85909810 | 85909999 | 786 | 974 | 197 | 260 |
| 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 |
| Q9H3K2 | 197 | 260 | 46 | 345 | Chain | ID=PRO_0000179119;Note=Growth hormone-inducible transmembrane protein |
| Q9H3K2 | 197 | 260 | 212 | 213 | Topological domain | Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 235 | 244 | Topological domain | Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 191 | 211 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 214 | 234 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 245 | 265 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9H3K2 | 197 | 260 | 46 | 345 | Chain | ID=PRO_0000179119;Note=Growth hormone-inducible transmembrane protein |
| Q9H3K2 | 197 | 260 | 212 | 213 | Topological domain | Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 235 | 244 | Topological domain | Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 191 | 211 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 214 | 234 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H3K2 | 197 | 260 | 245 | 265 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for GHITM |
| - 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. |
GHITM_KIRC_exon_skip_43443_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_43443 | 85909811 | 85909999 | 85909849 | 85909849 | Frame_Shift_Del | G | - | p.G212fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_43443 | 85909811 | 85909999 | 85909957 | 85909957 | Frame_Shift_Del | C | - | p.P247fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_43445 | 85910465 | 85910636 | 85910626 | 85910626 | Frame_Shift_Del | C | - | p.P315fs |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_43439 | 85904631 | 85904772 | 85904637 | 85904637 | Nonsense_Mutation | G | A | p.W116* |
| THYM | TCGA-XM-A8RI-01 | exon_skip_43439 | 85904631 | 85904772 | 85904630 | 85904630 | Splice_Site | G | T | . |
| KIRC | TCGA-B0-5077-01 | exon_skip_43443 | 85909811 | 85909999 | 85910001 | 85910008 | Splice_Site | TAAGCTGC | - | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-B0-5077-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_43443 | |
| Skipped exon start: 85909811 | |
| Skipped exon end: 85909999 | |
| Mutation start: 85910001 | |
| Mutation end: 85910008 | |
| Mutation type: Splice_Site | |
| Reference seq: TAAGCTGC | |
| Mutation seq: - | |
| AAchange: . | |
exon_skip_43443_KIRC_TCGA-B0-5077-01.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 |
| LB373EBV_MATCHED_NORMAL_TISSUE | 85909811 | 85909999 | 85909861 | 85909863 | In_Frame_Del | CTC | - | p.L215del |
| LB373MELD_SKIN | 85909811 | 85909999 | 85909861 | 85909863 | In_Frame_Del | CTC | - | p.L215del |
| NCIH838_LUNG | 85904631 | 85904772 | 85904637 | 85904637 | Missense_Mutation | G | T | p.W116C |
| OVK18_OVARY | 85904631 | 85904772 | 85904669 | 85904669 | Missense_Mutation | C | T | p.T127I |
| PA1_OVARY | 85904631 | 85904772 | 85904747 | 85904747 | Missense_Mutation | A | C | p.N153T |
| BIN67_OVARY | 85910465 | 85910636 | 85910593 | 85910593 | Missense_Mutation | G | T | p.V304L |
| HEC251_ENDOMETRIUM | 85910465 | 85910636 | 85910636 | 85910636 | Splice_Site | C | T | p.S318L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GHITM |
| 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 GHITM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GHITM |
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RelatedDrugs for GHITM |
| 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 GHITM |
| 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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