Evidence Details for C9orf82
Basic Information Top
| Gene Symbol: | C9orf82 ( FLJ13657,RP11-337A23.1 ) |
|---|---|
| Gene Full Name: | chromosome 9 open reading frame 82 |
| Band: | 9p21.2 |
| Quick Links | Entrez ID:79886; OMIM: NA; Uniprot ID:CI082_HUMAN; ENSEMBL ID: ENSG00000120159; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C9orf82|79886|nucleotide
ATGCTTCAGCAGTGCTTCTGTATTATAGGAGAGAAAAAGTTACAGAAGATGCTTCCTGATGTGTTAAAGAACTGTTCAATAGAAGAAATTAAAAAACTATGCCAG
GAACAGTTAGAGCTCCTGTCTGAAAAAAAAATTTTGAAGATTCTTGAGGGTGACAATGGAATGGACTCTGATATGGAAGAGGAAGCAGATGATGGTTCTAAGATG
GGATCTGATTTAGTCAGTCAGCAAGACATCTGTATAGATTCTGCTTCATCCGTGAGAGAGAATAAGCAACCTGAAGGTTTGGAATTAAAACAAGGAAAAGGGGAA
GATAGTGATGTACTCAGTATAAATGCAGATGCTTATGACAGCGACATAGAAGGCCCATGCAACGAAGAAGCAGCTGCTCCCGAGGCACCAGAAAATACAGTCCAA
AGTGAAGCTGGTCAGATAGATGACCTGGAGAAAGACATTGAGAAAAGTGTGAATGAGATTCTAGGACTGGCAGAGTCTAGCCCAAACGAACCCAAAGCAGCCACC
CTGGCTGTTCCTCCACCAGAAGATGTTCAACCTTCTGCACAGCAACTGGAGCTGCTAGAACTTGAGATGAGGGCAAGAGCGATTAAAGCCCTAATGAAAGCTGGT
GATATAAAAAAGCCAGCCTAG
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ATGCTTCAGCAGTGCTTCTGTATTATAGGAGAGAAAAAGTTACAGAAGATGCTTCCTGATGTGTTAAAGAACTGTTCAATAGAAGAAATTAAAAAACTATGCCAG
GAACAGTTAGAGCTCCTGTCTGAAAAAAAAATTTTGAAGATTCTTGAGGGTGACAATGGAATGGACTCTGATATGGAAGAGGAAGCAGATGATGGTTCTAAGATG
GGATCTGATTTAGTCAGTCAGCAAGACATCTGTATAGATTCTGCTTCATCCGTGAGAGAGAATAAGCAACCTGAAGGTTTGGAATTAAAACAAGGAAAAGGGGAA
GATAGTGATGTACTCAGTATAAATGCAGATGCTTATGACAGCGACATAGAAGGCCCATGCAACGAAGAAGCAGCTGCTCCCGAGGCACCAGAAAATACAGTCCAA
AGTGAAGCTGGTCAGATAGATGACCTGGAGAAAGACATTGAGAAAAGTGTGAATGAGATTCTAGGACTGGCAGAGTCTAGCCCAAACGAACCCAAAGCAGCCACC
CTGGCTGTTCCTCCACCAGAAGATGTTCAACCTTCTGCACAGCAACTGGAGCTGCTAGAACTTGAGATGAGGGCAAGAGCGATTAAAGCCCTAATGAAAGCTGGT
GATATAAAAAAGCCAGCCTAG
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>C9orf82|79886|protein
MLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELKQGKGE
DSDVLSINADAYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKALMKAG
DIKKPA
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MLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELKQGKGE
DSDVLSINADAYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKALMKAG
DIKKPA
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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 (1) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| 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 | - - |
- - | ||
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top