Evidence Details for GNAI1
Basic Information Top
| Gene Symbol: | GNAI1 ( Gi ) |
|---|---|
| Gene Full Name: | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 |
| Band: | 7q21.11 |
| Quick Links | Entrez ID:2770; OMIM: 139310; Uniprot ID:GNAI1_HUMAN; ENSEMBL ID: ENSG00000127955; HGNC ID: 4384 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GNAI1|2770|nucleotide
ATGGGCTGCACGCTGAGCGCCGAGGACAAGGCGGCGGTGGAGCGGAGTAAGATGATCGACCGCAACCTCCGTGAGGACGGCGAGAAGGCGGCGCGCGAGGTCAAG
CTGCTGCTGCTCGGTGCTGGTGAATCTGGTAAAAGTACAATTGTGAAGCAGATGAAAATTATCCATGAAGCTGGTTATTCAGAAGAGGAGTGTAAACAATACAAA
GCAGTGGTCTACAGTAACACCATCCAGTCAATTATTGCTATCATTAGGGCTATGGGGAGGTTGAAGATAGACTTTGGTGACTCAGCCCGGGCGGATGATGCACGC
CAACTCTTTGTGCTAGCTGGAGCTGCTGAAGAAGGCTTTATGACTGCAGAACTTGCTGGAGTTATAAAGAGATTGTGGAAAGATAGTGGTGTACAAGCCTGTTTC
AACAGATCCCGAGAGTACCAGCTTAATGATTCTGCAGCATACTATTTGAATGACTTGGACAGAATAGCTCAACCAAATTACATCCCGACTCAACAAGATGTTCTC
AGAACTAGAGTGAAAACTACAGGAATTGTTGAAACCCATTTTACTTTCAAAGATCTTCATTTTAAAATGTTTGATGTGGGAGGTCAGAGATCTGAGCGGAAGAAG
TGGATTCATTGCTTCGAAGGAGTGACGGCGATCATCTTCTGTGTAGCACTGAGTGACTACGACCTGGTTCTAGCTGAAGATGAAGAAATGAACCGAATGCATGAA
AGCATGAAATTGTTTGACAGCATATGTAACAACAAGTGGTTTACAGATACATCCATTATACTTTTTCTAAACAAGAAGGATCTCTTTGAAGAAAAAATCAAAAAG
AGCCCTCTCACTATATGCTATCCAGAATATGCAGGATCAAACACATATGAAGAGGCAGCTGCATATATTCAATGTCAGTTTGAAGACCTCAATAAAAGAAAGGAC
ACAAAGGAAATATACACCCACTTCACATGTGCCACAGATACTAAGAATGTGCAGTTTGTTTTTGATGCTGTAACAGATGTCATCATAAAAAATAATCTAAAAGAT
TGTGGTCTCTTTTAA
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ATGGGCTGCACGCTGAGCGCCGAGGACAAGGCGGCGGTGGAGCGGAGTAAGATGATCGACCGCAACCTCCGTGAGGACGGCGAGAAGGCGGCGCGCGAGGTCAAG
CTGCTGCTGCTCGGTGCTGGTGAATCTGGTAAAAGTACAATTGTGAAGCAGATGAAAATTATCCATGAAGCTGGTTATTCAGAAGAGGAGTGTAAACAATACAAA
GCAGTGGTCTACAGTAACACCATCCAGTCAATTATTGCTATCATTAGGGCTATGGGGAGGTTGAAGATAGACTTTGGTGACTCAGCCCGGGCGGATGATGCACGC
CAACTCTTTGTGCTAGCTGGAGCTGCTGAAGAAGGCTTTATGACTGCAGAACTTGCTGGAGTTATAAAGAGATTGTGGAAAGATAGTGGTGTACAAGCCTGTTTC
AACAGATCCCGAGAGTACCAGCTTAATGATTCTGCAGCATACTATTTGAATGACTTGGACAGAATAGCTCAACCAAATTACATCCCGACTCAACAAGATGTTCTC
AGAACTAGAGTGAAAACTACAGGAATTGTTGAAACCCATTTTACTTTCAAAGATCTTCATTTTAAAATGTTTGATGTGGGAGGTCAGAGATCTGAGCGGAAGAAG
TGGATTCATTGCTTCGAAGGAGTGACGGCGATCATCTTCTGTGTAGCACTGAGTGACTACGACCTGGTTCTAGCTGAAGATGAAGAAATGAACCGAATGCATGAA
AGCATGAAATTGTTTGACAGCATATGTAACAACAAGTGGTTTACAGATACATCCATTATACTTTTTCTAAACAAGAAGGATCTCTTTGAAGAAAAAATCAAAAAG
AGCCCTCTCACTATATGCTATCCAGAATATGCAGGATCAAACACATATGAAGAGGCAGCTGCATATATTCAATGTCAGTTTGAAGACCTCAATAAAAGAAAGGAC
ACAAAGGAAATATACACCCACTTCACATGTGCCACAGATACTAAGAATGTGCAGTTTGTTTTTGATGCTGTAACAGATGTCATCATAAAAAATAATCTAAAAGAT
TGTGGTCTCTTTTAA
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>GNAI1|2770|protein
MGCTLSAEDKAAVERSKMIDRNLREDGEKAAREVKLLLLGAGESGKSTIVKQMKIIHEAGYSEEECKQYKAVVYSNTIQSIIAIIRAMGRLKIDFGDSARADDAR
QLFVLAGAAEEGFMTAELAGVIKRLWKDSGVQACFNRSREYQLNDSAAYYLNDLDRIAQPNYIPTQQDVLRTRVKTTGIVETHFTFKDLHFKMFDVGGQRSERKK
WIHCFEGVTAIIFCVALSDYDLVLAEDEEMNRMHESMKLFDSICNNKWFTDTSIILFLNKKDLFEEKIKKSPLTICYPEYAGSNTYEEAAAYIQCQFEDLNKRKD
TKEIYTHFTCATDTKNVQFVFDAVTDVIIKNNLKDCGLF
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MGCTLSAEDKAAVERSKMIDRNLREDGEKAAREVKLLLLGAGESGKSTIVKQMKIIHEAGYSEEECKQYKAVVYSNTIQSIIAIIRAMGRLKIDFGDSARADDAR
QLFVLAGAAEEGFMTAELAGVIKRLWKDSGVQACFNRSREYQLNDSAAYYLNDLDRIAQPNYIPTQQDVLRTRVKTTGIVETHFTFKDLHFKMFDVGGQRSERKK
WIHCFEGVTAIIFCVALSDYDLVLAEDEEMNRMHESMKLFDSICNNKWFTDTSIILFLNKKDLFEEKIKKSPLTICYPEYAGSNTYEEAAAYIQCQFEDLNKRKD
TKEIYTHFTCATDTKNVQFVFDAVTDVIIKNNLKDCGLF
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 22 (3) |
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 | ||||||
| Zwaag, 2009 | - | SNP microarray | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 |
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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Turner TN, 2016 | 53 | - | 27 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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