AutismKB 2.0

Evidence Details for EXOC2


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Basic Information Top
Gene Symbol:EXOC2 ( FLJ11026,SEC5,SEC5L1,Sec5p )
Gene Full Name: exocyst complex component 2
Band: 6p25.3
Quick LinksEntrez ID:55770; OMIM: NA; Uniprot ID:EXOC2_HUMAN; ENSEMBL ID: ENSG00000112685; HGNC ID: 24968
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EXOC2|55770|nucleotide
ATGTCTCGATCACGACAACCCCCCCTTGTGACCGGCATCTCTCCAAATGAAGGGATACCATGGACGAAGGTCACAATCAGGGGAGAAAATCTGGGGACTGGCCCC
ACCGACCTCATAGGCTTGACCATTTGTGGACATAATTGCCTCCTGACGGCAGAATGGATGTCTGCAAGTAAAATAGTATGTCGAGTGGGACAAGCCAAAAATGAC
AAAGGAGACATTATTGTCACCACTAAGTCAGGTGGCAGAGGAACCTCAACAGTCTCTTTCAAGCTACTCAAACCTGAGAAAATAGGCATTTTGGATCAGTCTGCT
GTGTGGGTTGATGAAATGAATTATTATGATATGCGCACTGACAGGAACAAAGGAATTCCGCCCTTGTCCTTACGTCCTGCTAACCCGCTTGGCATTGAGATTGAA
AAAAGTAAATTTTCGCAGAAGGACTTAGAAATGCTATTCCATGGAATGAGTGCTGATTTTACAAGTGAGAATTTCTCAGCAGCCTGGTATCTTATAGAGAATCAC
TCAAACACCAGTTTTGAGCAGCTCAAAATGGCAGTCACCAACCTAAAGAGACAGGCTAACAAGAAGAGTGAGGGCAGCCTGGCCTATGTGAAAGGCGGTCTCAGT
ACATTCTTCGAAGCACAGGATGCCCTCTCAGCCATCCATCAAAAACTAGAAGCAGATGGAACGGAAAAAGTAGAAGGATCCATGACGCAGAAACTGGAGAATGTT
CTGAACAGAGCAAGTAATACTGCAGACACATTGTTTCAAGAAGTATTAGGTCGGAAAGACAAGGCAGATTCCACTAGAAATGCACTCAATGTGCTTCAGCGATTT
AAGTTTCTTTTCAACCTTCCTCTAAATATTGAAAGGAATATTCAAAAGGGTGATTATGATGTGGTTATTAATGATTATGAAAAGGCCAAGTCACTTTTTGGGAAA
ACGGAGGTGCAAGTTTTCAAGAAATATTATGCTGAAGTAGAAACAAGGATTGAAGCTTTAAGAGAATTACTTCTGGATAAATTGCTTGAGACACCATCAACTTTA
CATGACCAAAAACGTTACATAAGGTACCTGTCTGACCTTCATGCGTCTGGTGACCCTGCTTGGCAATGCATTGGAGCCCAACACAAGTGGATCCTTCAGCTCATG
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>EXOC2|55770|protein
MSRSRQPPLVTGISPNEGIPWTKVTIRGENLGTGPTDLIGLTICGHNCLLTAEWMSASKIVCRVGQAKNDKGDIIVTTKSGGRGTSTVSFKLLKPEKIGILDQSA
VWVDEMNYYDMRTDRNKGIPPLSLRPANPLGIEIEKSKFSQKDLEMLFHGMSADFTSENFSAAWYLIENHSNTSFEQLKMAVTNLKRQANKKSEGSLAYVKGGLS
TFFEAQDALSAIHQKLEADGTEKVEGSMTQKLENVLNRASNTADTLFQEVLGRKDKADSTRNALNVLQRFKFLFNLPLNIERNIQKGDYDVVINDYEKAKSLFGK
TEVQVFKKYYAEVETRIEALRELLLDKLLETPSTLHDQKRYIRYLSDLHASGDPAWQCIGAQHKWILQLMHSCKEGYVKDLKGNPGLHSPMLDLDNDTRPSVLGH
LSQTASLKRGSSFQSGRDDTWRYKTPHRVAFVEKLTKLVLSQLPNFWKLWISYVNGSLFSETAEKSGQIERSKNVRQRQNDFKKMIQEVMHSLVKLTRGALLPLS
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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) 0 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top