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Fusion gene ID: 36165 |
FusionGeneSummary for SSH2_SLC6A4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SSH2_SLC6A4 | Fusion gene ID: 36165 | Hgene | Tgene | Gene symbol | SSH2 | SLC6A4 | Gene ID | 85464 | 6532 |
| Gene name | slingshot protein phosphatase 2 | solute carrier family 6 member 4 | |
| Synonyms | SSH-2|SSH-2L | 5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT | |
| Cytomap | 17q11.2 | 17q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein phosphatase Slingshot homolog 2SSH-like protein 2 | sodium-dependent serotonin transporter5-hydroxytryptamine (serotonin) transporter5HT transporterNa+/Cl- dependent serotonin transporterserotonin transporter 1solute carrier family 6 (neurotransmitter transporter), member 4solute carrier family 6 (ne | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q76I76 | P31645 | |
| Ensembl transtripts involved in fusion gene | ENST00000269033, ENST00000540801, ENST00000324677, ENST00000582084, ENST00000590153, ENST00000579954, | ENST00000401766, ENST00000261707, | |
| Fusion gene scores | * DoF score | 24 X 11 X 6=1584 | 4 X 2 X 4=32 |
| # samples | 24 | 4 | |
| ** MAII score | log2(24/1584*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SSH2 [Title/Abstract] AND SLC6A4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | SLC6A4 | GO:0006837 | serotonin transport | 19270731 |
| Tgene | SLC6A4 | GO:0009636 | response to toxic substance | 17575980 |
| Tgene | SLC6A4 | GO:0015844 | monoamine transport | 16024787 |
| Tgene | SLC6A4 | GO:0051610 | serotonin uptake | 8987735|16870614|17506858|18227069|19270731 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | STAD | TCGA-VQ-A925-01A | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000269033 | ENST00000401766 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| 5CDS-5UTR | ENST00000269033 | ENST00000261707 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| 5CDS-intron | ENST00000540801 | ENST00000401766 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| 5CDS-5UTR | ENST00000540801 | ENST00000261707 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-intron | ENST00000324677 | ENST00000401766 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-5UTR | ENST00000324677 | ENST00000261707 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-intron | ENST00000582084 | ENST00000401766 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-5UTR | ENST00000582084 | ENST00000261707 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-intron | ENST00000590153 | ENST00000401766 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-5UTR | ENST00000590153 | ENST00000261707 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-intron | ENST00000579954 | ENST00000401766 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
| intron-5UTR | ENST00000579954 | ENST00000261707 | SSH2 | chr17 | 28120912 | - | SLC6A4 | chr17 | 28549933 | - |
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FusionProtFeatures for SSH2_SLC6A4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SSH2 | SLC6A4 |
| Protein phosphatase which regulates actin filamentdynamics. Dephosphorylates and activates the actinbinding/depolymerizing factor cofilin, which subsequently binds toactin filaments and stimulates their disassembly. Inhibitoryphosphorylation of cofilin is mediated by LIMK1, which may also bedephosphorylated and inactivated by this protein.{ECO:0000269|PubMed:11832213}. | Serotonin transporter whose primary function in thecentral nervous system involves the regulation of serotonergicsignaling via transport of serotonin molecules from the synapticcleft back into the pre-synaptic terminal for re-utilization.Plays a key role in mediating regulation of the availability ofserotonin to other receptors of serotonergic systems. Terminatesthe action of serotonin and recycles it in a sodium-dependentmanner. {ECO:0000269|PubMed:17506858, ECO:0000269|PubMed:18227069,ECO:0000269|PubMed:19270731, ECO:0000269|PubMed:27049939}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SSH2_SLC6A4 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SSH2_SLC6A4 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SSH2 | ACTB, ELAVL1, BAG3, XPO1, CAPZA2, DBN1, FLNA, MYH9, PPP1CB, IQGAP1, KIF3A, SYNPO, LIMA1, ANLN, MYO19, MYO18A, GAN, FBXW7, MYO1D, TRIM25 | SLC6A4 | STX1A, CANX, CALR, SNCA, SNCG, HSPA1A, HSPA8, HSP90AB1, STIP1, STUB1, PTGES3 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SSH2_SLC6A4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | SLC6A4 | P31645 | DB00215 | Citalopram | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00285 | Venlafaxine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00289 | Atomoxetine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00321 | Amitriptyline | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00344 | Protriptyline | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00370 | Mirtazapine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00408 | Loxapine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00454 | Pethidine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00458 | Imipramine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00476 | Duloxetine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00514 | Dextromethorphan | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00540 | Nortriptyline | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00543 | Amoxapine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00661 | Verapamil | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00726 | Trimipramine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00805 | Minaprine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00852 | Pseudoephedrine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00988 | Dopamine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB01104 | Sertraline | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB01114 | Chlorphenamine | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB06204 | Tapentadol | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB09016 | Butriptyline | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB09167 | Dosulepin | Sodium-dependent serotonin transporter | small molecule | approved |
| Tgene | SLC6A4 | P31645 | DB00191 | Phentermine | Sodium-dependent serotonin transporter | small molecule | approved|illicit |
| Tgene | SLC6A4 | P31645 | DB00907 | Cocaine | Sodium-dependent serotonin transporter | small molecule | approved|illicit |
| Tgene | SLC6A4 | P31645 | DB01577 | Methamphetamine | Sodium-dependent serotonin transporter | small molecule | approved|illicit |
| Tgene | SLC6A4 | P31645 | DB00182 | Amphetamine | Sodium-dependent serotonin transporter | small molecule | approved|illicit|investigational |
| Tgene | SLC6A4 | P31645 | DB00574 | Fenfluramine | Sodium-dependent serotonin transporter | small molecule | approved|illicit|investigational|withdrawn |
| Tgene | SLC6A4 | P31645 | DB01105 | Sibutramine | Sodium-dependent serotonin transporter | small molecule | approved|illicit|investigational|withdrawn |
| Tgene | SLC6A4 | P31645 | DB01191 | Dexfenfluramine | Sodium-dependent serotonin transporter | small molecule | approved|illicit|investigational|withdrawn |
| Tgene | SLC6A4 | P31645 | DB00176 | Fluvoxamine | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB00193 | Tramadol | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB00422 | Methylphenidate | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB00579 | Mazindol | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB00656 | Trazodone | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB00715 | Paroxetine | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB01142 | Doxepin | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB01151 | Desipramine | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB01175 | Escitalopram | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB04896 | Milnacipran | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB06148 | Mianserin | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB06700 | Desvenlafaxine | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB06701 | Dexmethylphenidate | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB09068 | Vortioxetine | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB09289 | Tianeptine | Sodium-dependent serotonin transporter | small molecule | approved|investigational |
| Tgene | SLC6A4 | P31645 | DB01242 | Clomipramine | Sodium-dependent serotonin transporter | small molecule | approved|investigational|vet_approved |
| Tgene | SLC6A4 | P31645 | DB09225 | Zotepine | Sodium-dependent serotonin transporter | small molecule | approved|investigational|withdrawn |
| Tgene | SLC6A4 | P31645 | DB00472 | Fluoxetine | Sodium-dependent serotonin transporter | small molecule | approved|vet_approved |
| Tgene | SLC6A4 | P31645 | DB01149 | Nefazodone | Sodium-dependent serotonin transporter | small molecule | approved|withdrawn |
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RelatedDiseases for SSH2_SLC6A4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC6A4 | C0011581 | Depressive disorder | 9 | CTD_human;PSYGENET |
| Tgene | SLC6A4 | C0001973 | Alcoholic Intoxication, Chronic | 7 | CTD_human;PSYGENET |
| Tgene | SLC6A4 | C0005586 | Bipolar Disorder | 7 | CTD_human;PSYGENET |
| Tgene | SLC6A4 | C0525045 | Mood Disorders | 6 | CTD_human;PSYGENET |
| Tgene | SLC6A4 | C1269683 | Major Depressive Disorder | 6 | CTD_human;PSYGENET |
| Tgene | SLC6A4 | C0004352 | Autistic Disorder | 5 | CTD_human |
| Tgene | SLC6A4 | C0011570 | Mental Depression | 5 | PSYGENET |
| Tgene | SLC6A4 | C0025193 | Melancholia | 5 | PSYGENET |
| Tgene | SLC6A4 | C0041696 | Unipolar Depression | 5 | PSYGENET |
| Tgene | SLC6A4 | C0085159 | Seasonal Affective Disorder | 5 | PSYGENET |
| Tgene | SLC6A4 | C0221074 | Depression, Postpartum | 5 | PSYGENET |
| Tgene | SLC6A4 | C0344315 | Depressed mood | 5 | PSYGENET |
| Tgene | SLC6A4 | C0581391 | Chronic depression | 4 | PSYGENET |
| Tgene | SLC6A4 | C0600427 | Cocaine Dependence | 4 | PSYGENET |
| Tgene | SLC6A4 | C0221480 | Recurrent depression | 3 | PSYGENET |
| Tgene | SLC6A4 | C0233477 | Dysphoric mood | 3 | PSYGENET |
| Tgene | SLC6A4 | C2063866 | Depressive Disorder, Treatment-Resistant | 3 | PSYGENET |
| Tgene | SLC6A4 | C0001723 | Affective Disorders, Psychotic | 2 | PSYGENET |
| Tgene | SLC6A4 | C0005587 | Depression, Bipolar | 2 | PSYGENET |
| Tgene | SLC6A4 | C0025261 | Memory Disorders | 2 | CTD_human |
| Tgene | SLC6A4 | C0085762 | Alcohol abuse | 2 | PSYGENET |
| Tgene | SLC6A4 | C0178417 | Anhedonia | 2 | PSYGENET |
| Tgene | SLC6A4 | C0338715 | Drug-induced depressive state | 2 | PSYGENET |
| Tgene | SLC6A4 | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| Tgene | SLC6A4 | C0003469 | Anxiety Disorders | 1 | CTD_human |
| Tgene | SLC6A4 | C0009241 | Cognition Disorders | 1 | CTD_human |
| Tgene | SLC6A4 | C0013415 | Dysthymic Disorder | 1 | PSYGENET |
| Tgene | SLC6A4 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| Tgene | SLC6A4 | C0024809 | Marijuana Abuse | 1 | PSYGENET |
| Tgene | SLC6A4 | C0028768 | Obsessive-Compulsive Disorder | 1 | CTD_human |
| Tgene | SLC6A4 | C0031212 | Personality Disorders | 1 | CTD_human |
| Tgene | SLC6A4 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | SLC6A4 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Tgene | SLC6A4 | C0038644 | Sudden infant death syndrome | 1 | CTD_human |
| Tgene | SLC6A4 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Tgene | SLC6A4 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Tgene | SLC6A4 | C0236792 | Asperger Syndrome | 1 | CTD_human |
| Tgene | SLC6A4 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | SLC6A4 | C0588008 | Severe depression | 1 | PSYGENET |
| Tgene | SLC6A4 | C3160814 | Cannabis use | 1 | PSYGENET |
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