Evidence Details for SORCS1
Basic Information Top
| Gene Symbol: | SORCS1 ( FLJ41758,FLJ43475,FLJ44957 ) |
|---|---|
| Gene Full Name: | sortilin-related VPS10 domain containing receptor 1 |
| Band: | 10q25.1 |
| Quick Links | Entrez ID:114815; OMIM: 606283; Uniprot ID:SORC1_HUMAN; ENSEMBL ID: ENSG00000108018; HGNC ID: 16697 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SORCS1|114815|nucleotide
ATGGGAAAAGTTGGCGCCGGCGGCGGCTCCCAAGCCCGGCTGAGCGCGCTCCTCGCCGGCGCGGGGCTCTTGATCCTCTGCGCCCCGGGCGTCTGCGGCGGCGGC
TCCTGCTGCCCCTCGCCGCACCCCAGCTCCGCTCCACGCTCGGCCTCGACCCCTAGGGGCTTTTCCCACCAGGGGCGGCCAGGCAGGGCTCCTGCCACGCCCCTG
CCCCTCGTAGTGCGTCCCCTGTTCTCAGTGGCCCCCGGGGACCGAGCGCTATCCCTGGAGCGGGCTCGGGGCACTGGGGCATCCATGGCGGTTGCTGCACGCTCC
GGCCGGAGGAGACGGAGCGGAGCGGATCAGGAGAAGGCAGAACGGGGAGAGGGCGCGAGTCGGAGCCCCCGGGGAGTGCTAAGAGATGGAGGGCAGCAGGAGCCT
GGGACTCGGGAGCGGGACCCGGACAAAGCCACCCGCTTCCGGATGGAGGAGCTGAGACTGACCAGCACCACGTTTGCGCTGACGGGAGACTCAGCACACAACCAA
GCCATGGTCCACTGGTCTGGCCACAACAGCAGCGTGATTCTCATTTTGACAAAGCTCTATGACTATAACCTGGGGAGCATCACAGAGAGCTCGCTTTGGAGGTCA
ACCGATTATGGAACAACCTATGAGAAGCTGAATGATAAAGTTGGTTTGAAAACCATTTTGAGCTATCTCTATGTGTGTCCTACCAACAAGCGTAAGATAATGTTA
CTCACAGACCCGGAGATTGAGAGCAGTTTATTGATCAGCTCAGATGAAGGGGCAACTTATCAAAAGTACCGGCTGAACTTCTACATTCAAAGCTTGCTTTTTCAC
CCCAAACAAGAAGACTGGATTCTGGCATACAGTCAAGACCAAAAGTTATACAGCTCTGCTGAATTTGGGAGAAGATGGCAGCTTATCCAAGAAGGGGTTGTACCA
AACAGGTTCTACTGGTCTGTGATGGGGTCAAATAAAGAACCAGACCTTGTGCATCTTGAGGCCAGAACTGTGGATGGTCATTCACATTATCTAACTTGCCGAATG
CAGAACTGTACAGAGGCCAACAGGAATCAGCCTTTTCCAGGCTACATTGACCCAGACTCTTTGATTGTTCAGGATCATTATGTGTTTGTTCAGCTGACATCAGGA
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ATGGGAAAAGTTGGCGCCGGCGGCGGCTCCCAAGCCCGGCTGAGCGCGCTCCTCGCCGGCGCGGGGCTCTTGATCCTCTGCGCCCCGGGCGTCTGCGGCGGCGGC
TCCTGCTGCCCCTCGCCGCACCCCAGCTCCGCTCCACGCTCGGCCTCGACCCCTAGGGGCTTTTCCCACCAGGGGCGGCCAGGCAGGGCTCCTGCCACGCCCCTG
CCCCTCGTAGTGCGTCCCCTGTTCTCAGTGGCCCCCGGGGACCGAGCGCTATCCCTGGAGCGGGCTCGGGGCACTGGGGCATCCATGGCGGTTGCTGCACGCTCC
GGCCGGAGGAGACGGAGCGGAGCGGATCAGGAGAAGGCAGAACGGGGAGAGGGCGCGAGTCGGAGCCCCCGGGGAGTGCTAAGAGATGGAGGGCAGCAGGAGCCT
GGGACTCGGGAGCGGGACCCGGACAAAGCCACCCGCTTCCGGATGGAGGAGCTGAGACTGACCAGCACCACGTTTGCGCTGACGGGAGACTCAGCACACAACCAA
GCCATGGTCCACTGGTCTGGCCACAACAGCAGCGTGATTCTCATTTTGACAAAGCTCTATGACTATAACCTGGGGAGCATCACAGAGAGCTCGCTTTGGAGGTCA
ACCGATTATGGAACAACCTATGAGAAGCTGAATGATAAAGTTGGTTTGAAAACCATTTTGAGCTATCTCTATGTGTGTCCTACCAACAAGCGTAAGATAATGTTA
CTCACAGACCCGGAGATTGAGAGCAGTTTATTGATCAGCTCAGATGAAGGGGCAACTTATCAAAAGTACCGGCTGAACTTCTACATTCAAAGCTTGCTTTTTCAC
CCCAAACAAGAAGACTGGATTCTGGCATACAGTCAAGACCAAAAGTTATACAGCTCTGCTGAATTTGGGAGAAGATGGCAGCTTATCCAAGAAGGGGTTGTACCA
AACAGGTTCTACTGGTCTGTGATGGGGTCAAATAAAGAACCAGACCTTGTGCATCTTGAGGCCAGAACTGTGGATGGTCATTCACATTATCTAACTTGCCGAATG
CAGAACTGTACAGAGGCCAACAGGAATCAGCCTTTTCCAGGCTACATTGACCCAGACTCTTTGATTGTTCAGGATCATTATGTGTTTGTTCAGCTGACATCAGGA
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>SORCS1|114815|protein
MGKVGAGGGSQARLSALLAGAGLLILCAPGVCGGGSCCPSPHPSSAPRSASTPRGFSHQGRPGRAPATPLPLVVRPLFSVAPGDRALSLERARGTGASMAVAARS
GRRRRSGADQEKAERGEGASRSPRGVLRDGGQQEPGTRERDPDKATRFRMEELRLTSTTFALTGDSAHNQAMVHWSGHNSSVILILTKLYDYNLGSITESSLWRS
TDYGTTYEKLNDKVGLKTILSYLYVCPTNKRKIMLLTDPEIESSLLISSDEGATYQKYRLNFYIQSLLFHPKQEDWILAYSQDQKLYSSAEFGRRWQLIQEGVVP
NRFYWSVMGSNKEPDLVHLEARTVDGHSHYLTCRMQNCTEANRNQPFPGYIDPDSLIVQDHYVFVQLTSGGRPHYYVSYRRNAFAQMKLPKYALPKDMHVISTDE
NQVFAAVQEWNQNDTYNLYISDTRGVYFTLALENVQSSRGPEGNIMIDLYEVAGIKGMFLANKKIDNQVKTFITYNKGRDWRLLQAPDTDLRGDPVHCLLPYCSL
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MGKVGAGGGSQARLSALLAGAGLLILCAPGVCGGGSCCPSPHPSSAPRSASTPRGFSHQGRPGRAPATPLPLVVRPLFSVAPGDRALSLERARGTGASMAVAARS
GRRRRSGADQEKAERGEGASRSPRGVLRDGGQQEPGTRERDPDKATRFRMEELRLTSTTFALTGDSAHNQAMVHWSGHNSSVILILTKLYDYNLGSITESSLWRS
TDYGTTYEKLNDKVGLKTILSYLYVCPTNKRKIMLLTDPEIESSLLISSDEGATYQKYRLNFYIQSLLFHPKQEDWILAYSQDQKLYSSAEFGRRWQLIQEGVVP
NRFYWSVMGSNKEPDLVHLEARTVDGHSHYLTCRMQNCTEANRNQPFPGYIDPDSLIVQDHYVFVQLTSGGRPHYYVSYRRNAFAQMKLPKYALPKDMHVISTDE
NQVFAAVQEWNQNDTYNLYISDTRGVYFTLALENVQSSRGPEGNIMIDLYEVAGIKGMFLANKKIDNQVKTFITYNKGRDWRLLQAPDTDLRGDPVHCLLPYCSL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 1 (2) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 15 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_1 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 1301 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.943195 | Down | 46.4662 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.