Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ovarian carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30365097 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ovarian carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30365097 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Attenuation of leptin and insulin signaling by SOCS proteins. | Howard JK and Flier JS, Trends Endocrinol Metab. 2006 Nov;17(9):365-71. Epub 2006 Sep 28. |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | Inhibitors of cytokine signal transduction. | Wormald S and Hilton DJ, J Biol Chem 2004 Jan 9;279(2):821-4. Epub 2003 Nov 7. |
PMID:9344857 | PMID:9419338 | PMID:10969179 | PMID:11837794 | PMID:12052866 | PMID:12076535 | PMID:12477932 | PMID:14644140 | PMID:14702039 | PMID:15242778 | PMID:15489334 | PMID:15677474 |
PMID:16127460 | PMID:16625196 | PMID:16751776 | PMID:17803907 | PMID:18029348 | PMID:20357037 | PMID:20433750 | PMID:20598684 | PMID:21145461 | PMID:21873635 | PMID:22213096 | PMID:22397880 |
PMID:23392170 | PMID:23535730 | PMID:23767996 | PMID:24046004 | PMID:24210661 | PMID:25162020 | PMID:25286386 | PMID:28514442 | PMID:31253590 | PMID:32268115 | PMID:32296183 | PMID:32978373 |
PMID:33961781 | PMID:34345210 | PMID:35042950 | PMID:35624501 | PMID:36169255 | PMID:36769102 |
SOCS7 (Homo sapiens - human) |
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Socs7 (Mus musculus - house mouse) |
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Socs7 (Rattus norvegicus - Norway rat) |
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Socs7 (Chinchilla lanigera - long-tailed chinchilla) |
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SOCS7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SOCS7 (Canis lupus familiaris - dog) |
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Socs7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SOCS7 (Sus scrofa - pig) |
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SOCS7 (Chlorocebus sabaeus - green monkey) |
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Socs7 (Heterocephalus glaber - naked mole-rat) |
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Variants in SOCS7
15 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 | copy number gain | See cases [RCV000050957] | Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
NM_014598.3(SOCS7):c.1026C>T (p.Phe342=) | single nucleotide variant | Malignant melanoma [RCV000063200] | Chr17:38365375 [GRCh38] Chr17:36521258 [GRCh37] Chr17:33774784 [NCBI36] Chr17:17q12 |
not provided |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 | copy number gain | See cases [RCV000137437] | Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
GRCh37/hg19 17q12(chr17:36474601-36552916)x3 | copy number gain | See cases [RCV000445960] | Chr17:36474601..36552916 [GRCh37] Chr17:17q12 |
likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 | copy number gain | not provided [RCV000846852] | Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2 |
pathogenic |
GRCh37/hg19 17q12(chr17:36353952-36680186)x3 | copy number gain | not provided [RCV000846603] | Chr17:36353952..36680186 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.803C>T (p.Pro268Leu) | single nucleotide variant | Inborn genetic diseases [RCV003291078] | Chr17:38352855 [GRCh38] Chr17:36508738 [GRCh37] Chr17:17q12 |
uncertain significance |
GRCh37/hg19 17q12(chr17:36473175-36567469)x3 | copy number gain | Short stature [RCV001250262] | Chr17:36473175..36567469 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.502G>C (p.Gly168Arg) | single nucleotide variant | Inborn genetic diseases [RCV002687425] | Chr17:38352554 [GRCh38] Chr17:36508437 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.1780G>A (p.Val594Ile) | single nucleotide variant | Inborn genetic diseases [RCV002888999] | Chr17:38395407 [GRCh38] Chr17:36551660 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.409G>A (p.Val137Ile) | single nucleotide variant | Inborn genetic diseases [RCV003006659] | Chr17:38352461 [GRCh38] Chr17:36508344 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.369G>C (p.Gln123His) | single nucleotide variant | Inborn genetic diseases [RCV002983730] | Chr17:38352421 [GRCh38] Chr17:36508304 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.784C>G (p.Leu262Val) | single nucleotide variant | Inborn genetic diseases [RCV002831468] | Chr17:38352836 [GRCh38] Chr17:36508719 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.1292C>T (p.Ser431Phe) | single nucleotide variant | Inborn genetic diseases [RCV002963648] | Chr17:38366326 [GRCh38] Chr17:36522209 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.1261C>T (p.Pro421Ser) | single nucleotide variant | Inborn genetic diseases [RCV002652376] | Chr17:38366295 [GRCh38] Chr17:36522178 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.653C>G (p.Pro218Arg) | single nucleotide variant | Inborn genetic diseases [RCV003207936] | Chr17:38352705 [GRCh38] Chr17:36508588 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.236T>C (p.Val79Ala) | single nucleotide variant | Inborn genetic diseases [RCV003302457] | Chr17:38352288 [GRCh38] Chr17:36508171 [GRCh37] Chr17:17q12 |
likely benign |
NM_014598.4(SOCS7):c.252G>T (p.Glu84Asp) | single nucleotide variant | Inborn genetic diseases [RCV003302458] | Chr17:38352304 [GRCh38] Chr17:36508187 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.391C>A (p.Gln131Lys) | single nucleotide variant | Inborn genetic diseases [RCV003365136] | Chr17:38352443 [GRCh38] Chr17:36508326 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.1085G>A (p.Arg362Gln) | single nucleotide variant | Inborn genetic diseases [RCV003370660] | Chr17:38364791 [GRCh38] Chr17:36520674 [GRCh37] Chr17:17q12 |
uncertain significance |
NM_014598.4(SOCS7):c.975G>A (p.Ala325=) | single nucleotide variant | not provided [RCV003413210] | Chr17:38353027 [GRCh38] Chr17:36508910 [GRCh37] Chr17:17q12 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
G20462 |
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A005S24 |
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D10S2448 |
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RH36905 |
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D8S2282 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 459 | 468 | 710 | 22 | 488 | 24 | 1668 | 390 | 2026 | 65 | 887 | 794 | 11 | 10 | 1199 | 3 |
Low | 1892 | 2390 | 774 | 411 | 1169 | 251 | 2650 | 1795 | 1638 | 117 | 373 | 669 | 160 | 1194 | 1589 | 1 |
Below cutoff | 126 | 118 | 8 |
RefSeq Transcripts | NM_014598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017024551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017024552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054329283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054329284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001752503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007065295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008484813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008485631 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA233668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB005216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC115992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC124789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC183084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC244092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC244153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI223248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK094338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW613025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC121030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC121031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC128607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ593634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000612932 ⟹ ENSP00000482229 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000613678 ⟹ ENSP00000484381 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000617360 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000617765 ⟹ ENSP00000482278 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000665913 ⟹ ENSP00000499750 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_014598 ⟹ NP_055413 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017024551 ⟹ XP_016880040 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017024552 ⟹ XP_016880041 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054315892 ⟹ XP_054171867 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054315893 ⟹ XP_054171868 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007065295 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008484813 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_055413 | (Get FASTA) | NCBI Sequence Viewer |
XP_016880040 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016880041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171867 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171868 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054185258 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054185259 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI28608 | (Get FASTA) | NCBI Sequence Viewer |
BAA22432 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60512 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000480736.1 | ||
ENSP00000482229 | |||
ENSP00000482229.2 | |||
ENSP00000482278.1 | |||
ENSP00000484381 | |||
ENSP00000484381.2 | |||
ENSP00000487855.1 | |||
ENSP00000488601.1 | |||
ENSP00000499750.1 | |||
GenBank Protein | O14512 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055413 ⟸ NM_014598 |
- UniProtKB: | Q0IJ63 (UniProtKB/Swiss-Prot), O14512 (UniProtKB/Swiss-Prot), A2VCU2 (UniProtKB/Swiss-Prot), A0A5F9YLF9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016880040 ⟸ XM_017024551 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A087X1Q5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016880041 ⟸ XM_017024552 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A087X1Q5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000499750 ⟸ ENST00000665913 |
RefSeq Acc Id: | ENSP00000482229 ⟸ ENST00000612932 |
RefSeq Acc Id: | ENSP00000484381 ⟸ ENST00000613678 |
RefSeq Acc Id: | ENSP00000482278 ⟸ ENST00000617765 |
RefSeq Acc Id: | XP_054171867 ⟸ XM_054315892 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171868 ⟸ XM_054315893 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O14512-F1-model_v2 | AlphaFold | O14512 | 1-581 | view protein structure |
RGD ID: | 6794561 | ||||||||
Promoter ID: | HG_KWN:25935 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_014598, UC002HQB.1, UC010CVL.1 | ||||||||
Position: |
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RGD ID: | 7234765 | ||||||||
Promoter ID: | EPDNEW_H23128 | ||||||||
Type: | initiation region | ||||||||
Name: | SOCS7_1 | ||||||||
Description: | suppressor of cytokine signaling 7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:29846 | AgrOrtholog |
COSMIC | SOCS7 | COSMIC |
Ensembl Genes | ENSG00000274211 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSG00000274229 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000612932 | ENTREZGENE |
ENST00000612932.6 | UniProtKB/TrEMBL | |
ENST00000613678 | ENTREZGENE | |
ENST00000613678.5 | UniProtKB/TrEMBL | |
ENST00000615473.2 | UniProtKB/Swiss-Prot | |
ENST00000617765.1 | UniProtKB/TrEMBL | |
ENST00000631692.1 | UniProtKB/TrEMBL | |
ENST00000632687.1 | UniProtKB/TrEMBL | |
ENST00000665913.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.505.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000274211 | GTEx |
ENSG00000274229 | GTEx | |
HGNC ID | HGNC:29846 | ENTREZGENE |
Human Proteome Map | SOCS7 | Human Proteome Map |
InterPro | SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH2_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOCS7_SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOCS7_SOCS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOCS_box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOCS_box-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:30837 | UniProtKB/Swiss-Prot |
NCBI Gene | 30837 | ENTREZGENE |
OMIM | 608788 | OMIM |
PANTHER | PHOSPHATIDYLINOSITOL 3-KINASE REGULATORY SUBUNIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SUPPRESSOR OF CYTOKINE SIGNALING 7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SOCS_box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA164742488 | PharmGKB |
PROSITE | SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SOCS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SOCS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOCS_box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF158235 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF55550 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087WZ14_HUMAN | UniProtKB/TrEMBL |
A0A087X1Q5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A0J9YXY1_HUMAN | UniProtKB/TrEMBL | |
A0A5F9YLF9 | ENTREZGENE, UniProtKB/TrEMBL | |
A2VCU2 | ENTREZGENE | |
O14512 | ENTREZGENE | |
Q0IJ63 | ENTREZGENE | |
SOCS7_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A2VCU2 | UniProtKB/Swiss-Prot |
Q0IJ63 | UniProtKB/Swiss-Prot |