Evidence Details for FAM84A
Basic Information Top
Gene Symbol: | FAM84A ( FLJ35392,NSE1,PP11517 ) |
---|---|
Gene Full Name: | family with sequence similarity 84, member A |
Band: | 2p24.3 |
Quick Links | Entrez ID:151354; OMIM: 611234; Uniprot ID:FA84A_HUMAN; ENSEMBL ID: ENSG00000162981; HGNC ID: 20743 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>FAM84A|151354|nucleotide
ATGGGCAACCAACTGGACCGCATCACCCACCTCAACTACAGCGAGTTGCCCACAGGGGACCCGTCGGGGATTGAAAAGGACGAACTGCGGGTCGGGGTTGCCTAC
TTCTTCTCGGATGATGAGGAAGACCTGGACGAACGCGGGCAGCCCGACAAGTTTGGCGTGAAGGCCCCCCCGGGTTGCACCCCCTGCCCGGAGAGCCCCAGCCGC
CACCACCACCACCTGCTGCACCAGCTGGTCCTCAACGAGACTCAGTTTTCCGCCTTTCGGGGCCAGGAATGCATCTTTTCCAAAGTGAGCGGTGGCCCTCAGGGC
GCCGACCTAAGCGTCTACGCGGTCACCGCGCTGCCAGCGCTCTGCGAACCCGGCGACCTGCTGGAGCTGCTGTGGCTGCAGCCCGCGCCGGAGCCGCCCGCGCCC
GCCCCGCACTGGGCCGTCTACGTGGGCGGCGGGCAGATCATCCACCTGCACCAAGGCGAGATCCGCCAGGACAGCCTGTATGAGGCGGGCGCGGCCAACGTGGGC
CGGGTGGTGAATAGCTGGTACCGCTACCGCCCGCTGGTGGCCGAGCTGGTGGTGCAGAACGCCTGCGGCCACCTGGGCCTCAAGAGCGAGGAGATCTGCTGGACG
AACTCGGAGAGCTTCGCCGCCTGGTGCCGCTTTGGCAAGCGGGAGTTCAAGGCGGGAGGGGAGGTGCCGGCAGGCACGCAGCCCCCGCAGCAGCAGTACTATCTC
AAGGTGCACCTGGGAGAGAACAAGGTCCACACCGCCAGGTTTCACAGCCTGGAAGACCTCATCCGCGAGAAGCGCCGTATCGACGCCAGCGGCCGCCTGCGAGTG
CTCCAGGAGCTCGCCGACCTCGTGGACGACAAGGAGTAG
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ATGGGCAACCAACTGGACCGCATCACCCACCTCAACTACAGCGAGTTGCCCACAGGGGACCCGTCGGGGATTGAAAAGGACGAACTGCGGGTCGGGGTTGCCTAC
TTCTTCTCGGATGATGAGGAAGACCTGGACGAACGCGGGCAGCCCGACAAGTTTGGCGTGAAGGCCCCCCCGGGTTGCACCCCCTGCCCGGAGAGCCCCAGCCGC
CACCACCACCACCTGCTGCACCAGCTGGTCCTCAACGAGACTCAGTTTTCCGCCTTTCGGGGCCAGGAATGCATCTTTTCCAAAGTGAGCGGTGGCCCTCAGGGC
GCCGACCTAAGCGTCTACGCGGTCACCGCGCTGCCAGCGCTCTGCGAACCCGGCGACCTGCTGGAGCTGCTGTGGCTGCAGCCCGCGCCGGAGCCGCCCGCGCCC
GCCCCGCACTGGGCCGTCTACGTGGGCGGCGGGCAGATCATCCACCTGCACCAAGGCGAGATCCGCCAGGACAGCCTGTATGAGGCGGGCGCGGCCAACGTGGGC
CGGGTGGTGAATAGCTGGTACCGCTACCGCCCGCTGGTGGCCGAGCTGGTGGTGCAGAACGCCTGCGGCCACCTGGGCCTCAAGAGCGAGGAGATCTGCTGGACG
AACTCGGAGAGCTTCGCCGCCTGGTGCCGCTTTGGCAAGCGGGAGTTCAAGGCGGGAGGGGAGGTGCCGGCAGGCACGCAGCCCCCGCAGCAGCAGTACTATCTC
AAGGTGCACCTGGGAGAGAACAAGGTCCACACCGCCAGGTTTCACAGCCTGGAAGACCTCATCCGCGAGAAGCGCCGTATCGACGCCAGCGGCCGCCTGCGAGTG
CTCCAGGAGCTCGCCGACCTCGTGGACGACAAGGAGTAG
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>FAM84A|151354|protein
MGNQLDRITHLNYSELPTGDPSGIEKDELRVGVAYFFSDDEEDLDERGQPDKFGVKAPPGCTPCPESPSRHHHHLLHQLVLNETQFSAFRGQECIFSKVSGGPQG
ADLSVYAVTALPALCEPGDLLELLWLQPAPEPPAPAPHWAVYVGGGQIIHLHQGEIRQDSLYEAGAANVGRVVNSWYRYRPLVAELVVQNACGHLGLKSEEICWT
NSESFAAWCRFGKREFKAGGEVPAGTQPPQQQYYLKVHLGENKVHTARFHSLEDLIREKRRIDASGRLRVLQELADLVDDKE
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MGNQLDRITHLNYSELPTGDPSGIEKDELRVGVAYFFSDDEEDLDERGQPDKFGVKAPPGCTPCPESPSRHHHHLLHQLVLNETQFSAFRGQECIFSKVSGGPQG
ADLSVYAVTALPALCEPGDLLELLWLQPAPEPPAPAPHWAVYVGGGQIIHLHQGEIRQDSLYEAGAANVGRVVNSWYRYRPLVAELVVQNACGHLGLKSEEICWT
NSESFAAWCRFGKREFKAGGEVPAGTQPPQQQYYLKVHLGENKVHTARFHSLEDLIREKRRIDASGRLRVLQELADLVDDKE
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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 | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (2) |
Syndromic Autism Gene Top
Genome-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
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2010 | USA | SNP-based genomic screen | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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