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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 SSH1 |
 Gene summary |
| Gene information | Gene symbol | SSH1 | Gene ID | 54434 |
| Gene name | slingshot protein phosphatase 1 | |
| Synonyms | SSH1L | |
| Cytomap | 12q24.11 | |
| Type of gene | protein-coding | |
| Description | protein phosphatase Slingshot homolog 1SSH-like protein 1hSSH-1Lslingshot homolog 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WYL5 | |
| Context | PubMed: SSH1 [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 |
| SSH1 | GO:0032268 | regulation of cellular protein metabolic process | 19000834 |
| SSH1 | GO:0071318 | cellular response to ATP | 19000834 |
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Exon skipping events across known transcript of Ensembl for SSH1 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 SSH1 |
| 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 SSH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_96000 | 12 | 109178572:109183020:109186061:109186605:109192775:109192976 | 109186061:109186605 | ENSG00000084112.10 | ENST00000546433.1,ENST00000360239.3,ENST00000326495.5 |
| exon_skip_96003 | 12 | 109186196:109186605:109192775:109192976:109194555:109194702 | 109192775:109192976 | ENSG00000084112.10 | ENST00000546433.1,ENST00000360239.3,ENST00000551165.1,ENST00000326495.5,ENST00000326470.5 |
| exon_skip_96005 | 12 | 109194555:109194702:109196097:109196144:109198831:109198960 | 109196097:109196144 | ENSG00000084112.10 | ENST00000551165.1,ENST00000326495.5,ENST00000326470.5 |
| exon_skip_96007 | 12 | 109201568:109201603:109203468:109203534:109205035:109205104 | 109203468:109203534 | ENSG00000084112.10 | ENST00000548522.1,ENST00000360239.3,ENST00000547381.1,ENST00000551165.1,ENST00000326495.5,ENST00000326470.5 |
| exon_skip_96009 | 12 | 109203494:109203534:109205035:109205104:109210813:109210935 | 109205035:109205104 | ENSG00000084112.10 | ENST00000548522.1,ENST00000546697.1,ENST00000360239.3,ENST00000551165.1,ENST00000326495.5,ENST00000326470.5 |
| exon_skip_96014 | 12 | 109210813:109210935:109212024:109212089:109217033:109217137 | 109212024:109212089 | ENSG00000084112.10 | ENST00000546697.1,ENST00000360239.3,ENST00000551165.1,ENST00000326495.5,ENST00000326470.5 |
| exon_skip_96017 | 12 | 109212024:109212089:109217033:109217137:109246413:109246454 | 109217033:109217137 | ENSG00000084112.10 | ENST00000360239.3,ENST00000551165.1,ENST00000326495.5 |
| exon_skip_96018 | 12 | 109217033:109217137:109246413:109246454:109251203:109251289 | 109246413:109246454 | ENSG00000084112.10 | ENST00000551165.1,ENST00000326495.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SSH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_96000 | 12 | 109178572:109183020:109186061:109186605:109192775:109192976 | 109186061:109186605 | ENSG00000084112.10 | ENST00000360239.3,ENST00000326495.5,ENST00000546433.1 |
| exon_skip_96003 | 12 | 109186196:109186605:109192775:109192976:109194555:109194702 | 109192775:109192976 | ENSG00000084112.10 | ENST00000360239.3,ENST00000326495.5,ENST00000546433.1,ENST00000551165.1,ENST00000326470.5 |
| exon_skip_96005 | 12 | 109194555:109194702:109196097:109196144:109198831:109198960 | 109196097:109196144 | ENSG00000084112.10 | ENST00000326495.5,ENST00000551165.1,ENST00000326470.5 |
| exon_skip_96007 | 12 | 109201568:109201603:109203468:109203534:109205035:109205104 | 109203468:109203534 | ENSG00000084112.10 | ENST00000360239.3,ENST00000326495.5,ENST00000551165.1,ENST00000326470.5,ENST00000548522.1,ENST00000547381.1 |
| exon_skip_96009 | 12 | 109203494:109203534:109205035:109205104:109210813:109210935 | 109205035:109205104 | ENSG00000084112.10 | ENST00000360239.3,ENST00000326495.5,ENST00000551165.1,ENST00000326470.5,ENST00000548522.1,ENST00000546697.1 |
| exon_skip_96014 | 12 | 109210813:109210935:109212024:109212089:109217033:109217137 | 109212024:109212089 | ENSG00000084112.10 | ENST00000360239.3,ENST00000326495.5,ENST00000551165.1,ENST00000326470.5,ENST00000546697.1 |
| exon_skip_96017 | 12 | 109212024:109212089:109217033:109217137:109246413:109246454 | 109217033:109217137 | ENSG00000084112.10 | ENST00000360239.3,ENST00000326495.5,ENST00000551165.1 |
| exon_skip_96018 | 12 | 109217033:109217137:109246413:109246454:109251203:109251289 | 109246413:109246454 | ENSG00000084112.10 | ENST00000326495.5,ENST00000551165.1 |
| 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 SSH1 |
| 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 |
| ENST00000326495 | 109186061 | 109186605 | Frame-shift |
| ENST00000326495 | 109196097 | 109196144 | Frame-shift |
| ENST00000326495 | 109212024 | 109212089 | Frame-shift |
| ENST00000326495 | 109217033 | 109217137 | Frame-shift |
| ENST00000326495 | 109246413 | 109246454 | Frame-shift |
| ENST00000326495 | 109192775 | 109192976 | In-frame |
| ENST00000326495 | 109203468 | 109203534 | In-frame |
| ENST00000326495 | 109205035 | 109205104 | 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 |
| ENST00000326495 | 109186061 | 109186605 | Frame-shift |
| ENST00000326495 | 109196097 | 109196144 | Frame-shift |
| ENST00000326495 | 109212024 | 109212089 | Frame-shift |
| ENST00000326495 | 109217033 | 109217137 | Frame-shift |
| ENST00000326495 | 109246413 | 109246454 | Frame-shift |
| ENST00000326495 | 109192775 | 109192976 | In-frame |
| ENST00000326495 | 109203468 | 109203534 | In-frame |
| ENST00000326495 | 109205035 | 109205104 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SSH1 |
| 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 |
| ENST00000326495 | 8555 | 1049 | 109205035 | 109205104 | 496 | 564 | 134 | 156 |
| ENST00000326495 | 8555 | 1049 | 109203468 | 109203534 | 565 | 630 | 157 | 178 |
| ENST00000326495 | 8555 | 1049 | 109192775 | 109192976 | 1243 | 1443 | 383 | 449 |
| 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 |
| ENST00000326495 | 8555 | 1049 | 109205035 | 109205104 | 496 | 564 | 134 | 156 |
| ENST00000326495 | 8555 | 1049 | 109203468 | 109203534 | 565 | 630 | 157 | 178 |
| ENST00000326495 | 8555 | 1049 | 109192775 | 109192976 | 1243 | 1443 | 383 | 449 |
| 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 |
| Q8WYL5 | 134 | 156 | 1 | 312 | Alternative sequence | ID=VSP_016311;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10718198;Dbxref=PMID:10718198 |
| Q8WYL5 | 134 | 156 | 135 | 157 | Alternative sequence | ID=VSP_016315;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11832213;Dbxref=PMID:11832213 |
| Q8WYL5 | 134 | 156 | 2 | 1049 | Chain | ID=PRO_0000094841;Note=Protein phosphatase Slingshot homolog 1 |
| Q8WYL5 | 157 | 178 | 1 | 312 | Alternative sequence | ID=VSP_016311;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10718198;Dbxref=PMID:10718198 |
| Q8WYL5 | 157 | 178 | 135 | 157 | Alternative sequence | ID=VSP_016315;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11832213;Dbxref=PMID:11832213 |
| Q8WYL5 | 157 | 178 | 2 | 1049 | Chain | ID=PRO_0000094841;Note=Protein phosphatase Slingshot homolog 1 |
| Q8WYL5 | 383 | 449 | 393 | 393 | Active site | Note=Phosphocysteine intermediate;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WYL5 | 383 | 449 | 245 | 1049 | Alternative sequence | ID=VSP_016316;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11832213;Dbxref=PMID:11832213 |
| Q8WYL5 | 383 | 449 | 2 | 1049 | Chain | ID=PRO_0000094841;Note=Protein phosphatase Slingshot homolog 1 |
| Q8WYL5 | 383 | 449 | 308 | 448 | Domain | Note=Tyrosine-protein phosphatase |
| Q8WYL5 | 383 | 449 | 393 | 393 | Mutagenesis | Note=Abrogates phosphatase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11832213,ECO:0000269|PubMed:12684437,ECO:0000269|PubMed:12807904,ECO:000026 |
| 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 |
| Q8WYL5 | 134 | 156 | 1 | 312 | Alternative sequence | ID=VSP_016311;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10718198;Dbxref=PMID:10718198 |
| Q8WYL5 | 134 | 156 | 135 | 157 | Alternative sequence | ID=VSP_016315;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11832213;Dbxref=PMID:11832213 |
| Q8WYL5 | 134 | 156 | 2 | 1049 | Chain | ID=PRO_0000094841;Note=Protein phosphatase Slingshot homolog 1 |
| Q8WYL5 | 157 | 178 | 1 | 312 | Alternative sequence | ID=VSP_016311;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10718198;Dbxref=PMID:10718198 |
| Q8WYL5 | 157 | 178 | 135 | 157 | Alternative sequence | ID=VSP_016315;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11832213;Dbxref=PMID:11832213 |
| Q8WYL5 | 157 | 178 | 2 | 1049 | Chain | ID=PRO_0000094841;Note=Protein phosphatase Slingshot homolog 1 |
| Q8WYL5 | 383 | 449 | 393 | 393 | Active site | Note=Phosphocysteine intermediate;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WYL5 | 383 | 449 | 245 | 1049 | Alternative sequence | ID=VSP_016316;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11832213;Dbxref=PMID:11832213 |
| Q8WYL5 | 383 | 449 | 2 | 1049 | Chain | ID=PRO_0000094841;Note=Protein phosphatase Slingshot homolog 1 |
| Q8WYL5 | 383 | 449 | 308 | 448 | Domain | Note=Tyrosine-protein phosphatase |
| Q8WYL5 | 383 | 449 | 393 | 393 | Mutagenesis | Note=Abrogates phosphatase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11832213,ECO:0000269|PubMed:12684437,ECO:0000269|PubMed:12807904,ECO:000026 |
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SNVs in the skipped exons for SSH1 |
| - 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 |
| STAD | TCGA-D7-A6EY-01 | exon_skip_96000 | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L518fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_96000 | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L507fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_96000 | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L518fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_96003 | 109192776 | 109192976 | 109192871 | 109192871 | Frame_Shift_Del | T | - | p.A419fs |
| BLCA | TCGA-FD-A5C1-01 | exon_skip_96017 | 109217034 | 109217137 | 109217075 | 109217075 | Frame_Shift_Del | G | - | p.P58fs |
| SKCM | TCGA-Z2-A8RT-06 | exon_skip_96000 | 109186062 | 109186605 | 109186457 | 109186457 | Nonsense_Mutation | G | A | p.Q500* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_96018 | 109246414 | 109246454 | 109246430 | 109246430 | Nonsense_Mutation | G | A | p.R32* |
| KIRP | TCGA-B9-A8YI-01 | exon_skip_96014 | 109212025 | 109212089 | 109212091 | 109212091 | Splice_Site | T | A | . |
| - 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 |
| SW626_OVARY | 109186062 | 109186605 | 109186262 | 109186263 | Frame_Shift_Del | CA | - | p.CE564fs |
| HEC151_ENDOMETRIUM | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L507fs |
| AN3CA_ENDOMETRIUM | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L507fs |
| EN_ENDOMETRIUM | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L507fs |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109186062 | 109186605 | 109186436 | 109186436 | Frame_Shift_Del | G | - | p.L507fs |
| LOVO_LARGE_INTESTINE | 109186062 | 109186605 | 109186341 | 109186341 | Missense_Mutation | C | A | p.E538D |
| HEC108_ENDOMETRIUM | 109186062 | 109186605 | 109186379 | 109186379 | Missense_Mutation | T | C | p.T526A |
| VAESBJ_SOFT_TISSUE | 109186062 | 109186605 | 109186462 | 109186462 | Missense_Mutation | G | A | p.A498V |
| SNU1040_LARGE_INTESTINE | 109186062 | 109186605 | 109186478 | 109186478 | Missense_Mutation | G | A | p.P493S |
| MM370_SKIN | 109186062 | 109186605 | 109186492 | 109186492 | Missense_Mutation | G | A | p.P488L |
| SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109192776 | 109192976 | 109192834 | 109192834 | Missense_Mutation | G | A | p.R431C |
| NCIH1648_LUNG | 109192776 | 109192976 | 109192888 | 109192888 | Missense_Mutation | C | T | p.G413S |
| DMS153_LUNG | 109192776 | 109192976 | 109192929 | 109192929 | Missense_Mutation | C | G | p.R399P |
| HEC251_ENDOMETRIUM | 109203469 | 109203534 | 109203496 | 109203496 | Missense_Mutation | A | C | p.F170C |
| LS411N_LARGE_INTESTINE | 109217034 | 109217137 | 109217106 | 109217106 | Missense_Mutation | C | T | p.A48T |
| TE12_OESOPHAGUS | 109205036 | 109205104 | 109205076 | 109205076 | Nonsense_Mutation | G | A | p.R144* |
| HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109192776 | 109192976 | 109192976 | 109192976 | Splice_Site | C | T | p.K383K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SSH1 |
| 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 SSH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SSH1 |
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RelatedDrugs for SSH1 |
| 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 SSH1 |
| 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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