Evidence Details for SPIC
Basic Information Top
| Gene Symbol: | SPIC ( MGC40611,SPI-C ) |
|---|---|
| Gene Full Name: | Spi-C transcription factor (Spi-1/PU.1 related) |
| Band: | 12q23.2 |
| Quick Links | Entrez ID:121599; OMIM: 612568; Uniprot ID:SPIC_HUMAN; ENSEMBL ID: ENSG00000166211; HGNC ID: 29549 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SPIC|121599|nucleotide
ATGACGTGTGTTGAACAAGACAAGCTGGGTCAAGCATTTGAAGATGCTTTTGAGGTTCTGAGGCAACATTCAACTGGAGATCTTCAGTACTCGCCAGATTACAGA
AATTACCTGGCTTTAATCAACCATCGTCCTCATGTCAAAGGAAATTCCAGCTGCTATGGAGTGTTGCCTACAGAGGAGCCTGTCTATAATTGGAGAACGGTAATT
AACAGTGCTGCGGACTTCTATTTTGAAGGAAATATTCATCAATCTCTGCAGAACATAACTGAAAACCAGCTGGTACAACCCACTCTTCTCCAGCAAAAGGGGGGA
AAAGGCAGGAAGAAGCTCCGACTGTTTGAATACCTTCACGAATCCCTGTATAATCCGGAGATGGCATCTTGTATTCAGTGGGTAGATAAAACCAAAGGCATCTTT
CAGTTTGTATCAAAAAACAAAGAAAAACTTGCCGAGCTTTGGGGGAAAAGAAAAGGCAACAGGAAGACCATGACTTACCAGAAAATGGCCAGGGCACTCAGAAAT
TACGGAAGAAGTGGGGAAATTACCAAAATCCGGAGGAAGCTGACTTACCAGTTCAGTGAGGCCATTCTCCAAAGACTCTCTCCATCCTATTTCCTGGGGAAAGAG
ATCTTCTATTCACAGTGTGTTCAACCTGATCAAGAATATCTCAGTTTAAATAACTGGAATGCAAATTATAATTATACATATGCCAATTACCATGAGCTAAATCAC
CATGATTGCTAA
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ATGACGTGTGTTGAACAAGACAAGCTGGGTCAAGCATTTGAAGATGCTTTTGAGGTTCTGAGGCAACATTCAACTGGAGATCTTCAGTACTCGCCAGATTACAGA
AATTACCTGGCTTTAATCAACCATCGTCCTCATGTCAAAGGAAATTCCAGCTGCTATGGAGTGTTGCCTACAGAGGAGCCTGTCTATAATTGGAGAACGGTAATT
AACAGTGCTGCGGACTTCTATTTTGAAGGAAATATTCATCAATCTCTGCAGAACATAACTGAAAACCAGCTGGTACAACCCACTCTTCTCCAGCAAAAGGGGGGA
AAAGGCAGGAAGAAGCTCCGACTGTTTGAATACCTTCACGAATCCCTGTATAATCCGGAGATGGCATCTTGTATTCAGTGGGTAGATAAAACCAAAGGCATCTTT
CAGTTTGTATCAAAAAACAAAGAAAAACTTGCCGAGCTTTGGGGGAAAAGAAAAGGCAACAGGAAGACCATGACTTACCAGAAAATGGCCAGGGCACTCAGAAAT
TACGGAAGAAGTGGGGAAATTACCAAAATCCGGAGGAAGCTGACTTACCAGTTCAGTGAGGCCATTCTCCAAAGACTCTCTCCATCCTATTTCCTGGGGAAAGAG
ATCTTCTATTCACAGTGTGTTCAACCTGATCAAGAATATCTCAGTTTAAATAACTGGAATGCAAATTATAATTATACATATGCCAATTACCATGAGCTAAATCAC
CATGATTGCTAA
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>SPIC|121599|protein
MTCVEQDKLGQAFEDAFEVLRQHSTGDLQYSPDYRNYLALINHRPHVKGNSSCYGVLPTEEPVYNWRTVINSAADFYFEGNIHQSLQNITENQLVQPTLLQQKGG
KGRKKLRLFEYLHESLYNPEMASCIQWVDKTKGIFQFVSKNKEKLAELWGKRKGNRKTMTYQKMARALRNYGRSGEITKIRRKLTYQFSEAILQRLSPSYFLGKE
IFYSQCVQPDQEYLSLNNWNANYNYTYANYHELNHHDC
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MTCVEQDKLGQAFEDAFEVLRQHSTGDLQYSPDYRNYLALINHRPHVKGNSSCYGVLPTEEPVYNWRTVINSAADFYFEGNIHQSLQNITENQLVQPTLLQQKGG
KGRKKLRLFEYLHESLYNPEMASCIQWVDKTKGIFQFVSKNKEKLAELWGKRKGNRKTMTYQKMARALRNYGRSGEITKIRRKLTYQFSEAILQRLSPSYFLGKE
IFYSQCVQPDQEYLSLNNWNANYNYTYANYHELNHHDC
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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) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.