AutismKB 2.0

Evidence Details for FLJ43860


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Basic Information Top
Gene Symbol:FLJ43860 ( - )
Gene Full Name: -
Band: 8q24.3
Quick LinksEntrez ID:389690; OMIM: NA; Uniprot ID:Q6ZMW9_HUMAN; ENSEMBL ID: ; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FLJ43860|389690|nucleotide
ATGGACAGGCAGTGTTCTGAAAGGCCATACAGCTGCACCCCGACGGGTAGAGTGTCGTCAGCCGTGTCCCAAAACTCCAGAATCTCCCCCCCTGTCTCCACATCC
ATGAAGGACTCATCTTGCATGAAGGTACACCAGGACTCTGCCCGCAGGGACAGATGGTCACACCCCACCACCATCCTGCTTCACAAGTCGCAGAGCAGCCAGGCC
ACACTGATGCTACAGGAGCACAGGATGTTCATGGGGGAAGCCTACAGTGCAGCCACCGGCTTCAAGATGCTGCAGGACATGAACAGTGCTGACCCCTTCCACTTG
AAGTACATCATCAAGAAGATCAAGAACATGGCTCATGGCTCCCCCAAGCTGGTGATGGAAACCATCCACGACTACTTCATAGACAACCCAGAGATCTCCAGCAGG
CACAAGTTCCGGCTGTTCCAGACCCTGGAGATGGTCATCGGGGCCAGTGACGTCCTGGAGGAGACCTGGGAGAAAACTTTCACACGGCTCGCTCTGGAGAACATG
ACCAAGGCCACGGAGCTGGAAGACATATACCAGGACGCGGCCAGCAACATGCTGGTGGCCATCTGCAGGCACTCGTGGCGGGTGGTGGCGCAGCATCTGGAGACG
GAGCTCCTGACGGGCGTCTTCCCACACAGAAGCCTCCTCTACGTGATGGGCGTCCTGTCCTCCAGCGAGGAGCTCTTCAGCCAGGAAGACAAGGCCTGCTGGGAA
GAGCAACTGATCCAGATGGCCATCAAGTCAGTCCCGTTCCTGAGCACGGATGTGTGGTCCAAGGAGCTGCTGTGGACACTCACCACGCCCAGCTGGACCCAACAG
GAGCAGTCCCCTGAGAAGGCCTTCCTGTTTACCTACTATGGGCTAATCCTTCAAGCTGAAAAAAACGGTGCCACGGTCAGGAGACACCTGCAAGCCCTCCTGGAA
ACATCCCACCAGTGGCCCAAGCAGAGGGAGGGCATGGCTCTGACCTTGGGGCTGGCGGCCACACGCCACCTGGATGACGTCTGGGCCGTCCTGGACCAGTTTGGC
AGGAGCAGGCCCATCAGATGGAGTCTCCCCAGCTCCTCCCCAAAGAACTCGGAGGACCTGCGCTGGAAATGGGCCAGCAGCACCATCCTCCTGGCATACGGCCAG
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>FLJ43860|389690|protein
MDRQCSERPYSCTPTGRVSSAVSQNSRISPPVSTSMKDSSCMKVHQDSARRDRWSHPTTILLHKSQSSQATLMLQEHRMFMGEAYSAATGFKMLQDMNSADPFHL
KYIIKKIKNMAHGSPKLVMETIHDYFIDNPEISSRHKFRLFQTLEMVIGASDVLEETWEKTFTRLALENMTKATELEDIYQDAASNMLVAICRHSWRVVAQHLET
ELLTGVFPHRSLLYVMGVLSSSEELFSQEDKACWEEQLIQMAIKSVPFLSTDVWSKELLWTLTTPSWTQQEQSPEKAFLFTYYGLILQAEKNGATVRRHLQALLE
TSHQWPKQREGMALTLGLAATRHLDDVWAVLDQFGRSRPIRWSLPSSSPKNSEDLRWKWASSTILLAYGQVAAKARAHILPWVDNIVSRMVFYFHYSSWDETLKQ
SFLTATLMLMGAVSRSEGAHSYEFFQTSELLQCLMVLMEKEPQDTLCTRSRQQAMHIASSLCKLRPPIDLERKSQLLSTCFRSVFALPLLDALEKHTCLFLEPPN
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Evidence summary Top

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top