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
Show »
ATGACGTGTGTTGAACAAGACAAGCTGGGTCAAGCATTTGAAGATGCTTTTGAGGTTCTGAGGCAACATTCAACTGGAGATCTTCAGTACTCGCCAGATTACAGA
AATTACCTGGCTTTAATCAACCATCGTCCTCATGTCAAAGGAAATTCCAGCTGCTATGGAGTGTTGCCTACAGAGGAGCCTGTCTATAATTGGAGAACGGTAATT
AACAGTGCTGCGGACTTCTATTTTGAAGGAAATATTCATCAATCTCTGCAGAACATAACTGAAAACCAGCTGGTACAACCCACTCTTCTCCAGCAAAAGGGGGGA
AAAGGCAGGAAGAAGCTCCGACTGTTTGAATACCTTCACGAATCCCTGTATAATCCGGAGATGGCATCTTGTATTCAGTGGGTAGATAAAACCAAAGGCATCTTT
CAGTTTGTATCAAAAAACAAAGAAAAACTTGCCGAGCTTTGGGGGAAAAGAAAAGGCAACAGGAAGACCATGACTTACCAGAAAATGGCCAGGGCACTCAGAAAT
TACGGAAGAAGTGGGGAAATTACCAAAATCCGGAGGAAGCTGACTTACCAGTTCAGTGAGGCCATTCTCCAAAGACTCTCTCCATCCTATTTCCTGGGGAAAGAG
ATCTTCTATTCACAGTGTGTTCAACCTGATCAAGAATATCTCAGTTTAAATAACTGGAATGCAAATTATAATTATACATATGCCAATTACCATGAGCTAAATCAC
CATGATTGCTAA
Show »
>SPIC|121599|protein
MTCVEQDKLGQAFEDAFEVLRQHSTGDLQYSPDYRNYLALINHRPHVKGNSSCYGVLPTEEPVYNWRTVINSAADFYFEGNIHQSLQNITENQLVQPTLLQQKGG
KGRKKLRLFEYLHESLYNPEMASCIQWVDKTKGIFQFVSKNKEKLAELWGKRKGNRKTMTYQKMARALRNYGRSGEITKIRRKLTYQFSEAILQRLSPSYFLGKE
IFYSQCVQPDQEYLSLNNWNANYNYTYANYHELNHHDC
Show »
MTCVEQDKLGQAFEDAFEVLRQHSTGDLQYSPDYRNYLALINHRPHVKGNSSCYGVLPTEEPVYNWRTVINSAADFYFEGNIHQSLQNITENQLVQPTLLQQKGG
KGRKKLRLFEYLHESLYNPEMASCIQWVDKTKGIFQFVSKNKEKLAELWGKRKGNRKTMTYQKMARALRNYGRSGEITKIRRKLTYQFSEAILQRLSPSYFLGKE
IFYSQCVQPDQEYLSLNNWNANYNYTYANYHELNHHDC
Show »
Evidence summary Top
Click 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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV 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 Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS 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 Top
NGS Other Studies Top
Low Scale Gene Studies Top
Contact 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.