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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 HSH2D |
 Gene summary |
| Gene information | Gene symbol | HSH2D | Gene ID | 84941 |
| Gene name | hematopoietic SH2 domain containing | |
| Synonyms | ALX|HSH2 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | hematopoietic SH2 domain-containing proteinadaptor in lymphocytes of unknown function X | |
| Modification date | 20180523 | |
| UniProtAcc | Q96JZ2 | |
| Context | PubMed: HSH2D [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 HSH2D 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 HSH2D |
| 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 HSH2D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303170 | 19 | 16254545:16254584:16259533:16259610:16263361:16263451 | 16259533:16259610 | ENSG00000196684.8 | ENST00000593031.1 |
| exon_skip_303171 | 19 | 16254545:16254584:16259533:16259685:16262256:16262388 | 16259533:16259685 | ENSG00000196684.8 | ENST00000589463.1 |
| exon_skip_303173 | 19 | 16254545:16254584:16259533:16259685:16263361:16263451 | 16259533:16259685 | ENSG00000196684.8 | ENST00000593154.2,ENST00000586872.1,ENST00000253680.6,ENST00000588246.1,ENST00000587963.1 |
| exon_skip_303174 | 19 | 16254545:16254584:16262256:16262388:16263361:16263451 | 16262256:16262388 | ENSG00000196684.8 | ENST00000535834.1 |
| exon_skip_303178 | 19 | 16259533:16259685:16262256:16262388:16263361:16263413 | 16262256:16262388 | ENSG00000196684.8 | ENST00000589463.1 |
| exon_skip_303183 | 19 | 16265260:16265301:16266451:16266573:16268019:16268058 | 16266451:16266573 | ENSG00000196684.8 | ENST00000591154.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HSH2D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303170 | 19 | 16254545:16254584:16259533:16259610:16263361:16263451 | 16259533:16259610 | ENSG00000196684.8 | ENST00000593031.1 |
| exon_skip_303171 | 19 | 16254545:16254584:16259533:16259685:16262256:16262388 | 16259533:16259685 | ENSG00000196684.8 | ENST00000589463.1 |
| exon_skip_303173 | 19 | 16254545:16254584:16259533:16259685:16263361:16263451 | 16259533:16259685 | ENSG00000196684.8 | ENST00000593154.2,ENST00000253680.6,ENST00000586872.1,ENST00000588246.1,ENST00000587963.1 |
| exon_skip_303174 | 19 | 16254545:16254584:16262256:16262388:16263361:16263451 | 16262256:16262388 | ENSG00000196684.8 | ENST00000535834.1 |
| exon_skip_303178 | 19 | 16259533:16259685:16262256:16262388:16263361:16263413 | 16262256:16262388 | ENSG00000196684.8 | ENST00000589463.1 |
| exon_skip_303183 | 19 | 16265260:16265301:16266451:16266573:16268019:16268058 | 16266451:16266573 | ENSG00000196684.8 | ENST00000591154.1 |
| 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 HSH2D |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for HSH2D |
| 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 HSH2D |
| - 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 |
| HNSC | TCGA-QK-A8Z8-01 | exon_skip_303171 exon_skip_303173 | 16259534 | 16259685 | 16259679 | 16259679 | Nonsense_Mutation | C | A | p.S40* |
| - 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 |
| NCIH520_LUNG | 16259534 | 16259610 | 16259576 | 16259576 | Missense_Mutation | A | G | p.K6E |
| NCIH520_LUNG | 16259534 | 16259685 | 16259576 | 16259576 | Missense_Mutation | A | G | p.K6E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HSH2D |
| 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 HSH2D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSH2D |
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RelatedDrugs for HSH2D |
| 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 HSH2D |
| 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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