Evidence Details for SSR1
Basic Information Top
| Gene Symbol: | SSR1 ( DKFZp781N23103,FLJ14232,FLJ22100,FLJ23034,FLJ78242,FLJ93042,TRAPA ) |
|---|---|
| Gene Full Name: | signal sequence receptor, alpha |
| Band: | 6p24.3 |
| Quick Links | Entrez ID:6745; OMIM: 600868; Uniprot ID:SSRA_HUMAN; ENSEMBL ID: ENSG00000124783; HGNC ID: 11323 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SSR1|6745|nucleotide
ATGAGACTCCTCCCCCGCTTGCTGCTGCTTCTCTTACTCGTGTTCCCTGCCACTGTCTTGTTCCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATCTT
ACAGAGGATGAAGAAACAGTAGAAGATTCCATAATTGAGGATGAAGATGATGAAGCCGAGGTAGAAGAAGATGAACCCACAGATTTGGTAGAAGATAAAGAGGAA
GAAGATGTGTCTGGTGAACCTGAAGCTTCACCGAGTGCAGATACAACTATACTGTTTGTAAAAGGAGAAGATTTTCCAGCAAATAACATTGTGAAGTTCCTGGTA
GGCTTTACCAACAAGGGTACAGAAGATTTTATTGTTGAATCCTTAGATGCCTCATTCCGTTATCCTCAGGACTACCAGTTTTATATCCAGAATTTCACAGCTCTT
CCTCTGAACACTGTAGTGCCACCCCAGAGACAGGCAACTTTTGAGTACTCTTTCATTCCTGCAGAGCCCATGGGCGGACGACCATTTGGTTTGGTCATCAATCTG
AACTACAAAGATTTGAACGGCAATGTATTCCAAGATGCAGTCTTCAATCAAACAGTTACAGTTATTGAAAGAGAGGATGGGTTAGATGGAGAAACAATCTTTATG
TATATGTTCCTTGCTGGTCTTGGGCTTCTGGTTATTGTTGGCCTTCATCAACTCCTAGAATCTAGAAAGCGTAAGAGACCCATACAGAAAGTAGAAATGGGTACA
TCAAGTCAGAATGATGTTGACATGAGTTGGATTCCTCAGGAAACATTGAATCAAATCAATAAAGCTTCACCAAGAAGGTTGCCCAGGAAACGGGCACAGAAGAGA
TCAGTGGGATCTGATGAGTAA
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ATGAGACTCCTCCCCCGCTTGCTGCTGCTTCTCTTACTCGTGTTCCCTGCCACTGTCTTGTTCCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATCTT
ACAGAGGATGAAGAAACAGTAGAAGATTCCATAATTGAGGATGAAGATGATGAAGCCGAGGTAGAAGAAGATGAACCCACAGATTTGGTAGAAGATAAAGAGGAA
GAAGATGTGTCTGGTGAACCTGAAGCTTCACCGAGTGCAGATACAACTATACTGTTTGTAAAAGGAGAAGATTTTCCAGCAAATAACATTGTGAAGTTCCTGGTA
GGCTTTACCAACAAGGGTACAGAAGATTTTATTGTTGAATCCTTAGATGCCTCATTCCGTTATCCTCAGGACTACCAGTTTTATATCCAGAATTTCACAGCTCTT
CCTCTGAACACTGTAGTGCCACCCCAGAGACAGGCAACTTTTGAGTACTCTTTCATTCCTGCAGAGCCCATGGGCGGACGACCATTTGGTTTGGTCATCAATCTG
AACTACAAAGATTTGAACGGCAATGTATTCCAAGATGCAGTCTTCAATCAAACAGTTACAGTTATTGAAAGAGAGGATGGGTTAGATGGAGAAACAATCTTTATG
TATATGTTCCTTGCTGGTCTTGGGCTTCTGGTTATTGTTGGCCTTCATCAACTCCTAGAATCTAGAAAGCGTAAGAGACCCATACAGAAAGTAGAAATGGGTACA
TCAAGTCAGAATGATGTTGACATGAGTTGGATTCCTCAGGAAACATTGAATCAAATCAATAAAGCTTCACCAAGAAGGTTGCCCAGGAAACGGGCACAGAAGAGA
TCAGTGGGATCTGATGAGTAA
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>SSR1|6745|protein
MRLLPRLLLLLLLVFPATVLFRGGPRGLLAVAQDLTEDEETVEDSIIEDEDDEAEVEEDEPTDLVEDKEEEDVSGEPEASPSADTTILFVKGEDFPANNIVKFLV
GFTNKGTEDFIVESLDASFRYPQDYQFYIQNFTALPLNTVVPPQRQATFEYSFIPAEPMGGRPFGLVINLNYKDLNGNVFQDAVFNQTVTVIEREDGLDGETIFM
YMFLAGLGLLVIVGLHQLLESRKRKRPIQKVEMGTSSQNDVDMSWIPQETLNQINKASPRRLPRKRAQKRSVGSDE
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MRLLPRLLLLLLLVFPATVLFRGGPRGLLAVAQDLTEDEETVEDSIIEDEDDEAEVEEDEPTDLVEDKEEEDVSGEPEASPSADTTILFVKGEDFPANNIVKFLV
GFTNKGTEDFIVESLDASFRYPQDYQFYIQNFTALPLNTVVPPQRQATFEYSFIPAEPMGGRPFGLVINLNYKDLNGNVFQDAVFNQTVTVIEREDGLDGETIFM
YMFLAGLGLLVIVGLHQLLESRKRKRPIQKVEMGTSSQNDVDMSWIPQETLNQINKASPRRLPRKRAQKRSVGSDE
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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 | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top