AutismKB 2.0

Evidence Details for ASPHD2


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Basic Information Top
Gene Symbol:ASPHD2 ( FLJ39838 )
Gene Full Name: aspartate beta-hydroxylase domain containing 2
Band: 22q12.1
Quick LinksEntrez ID:57168; OMIM: NA; Uniprot ID:ASPH2_HUMAN; ENSEMBL ID: ENSG00000128203; HGNC ID: 30437
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASPHD2|57168|nucleotide
ATGGTGTGGGCGCCCTTGGGACCCCCGAGGACTGATTGTCTGACCTTGCTTCACACGCCCAGTAAGGACTCCCCCAAGATGTCGCTCGAGTGGCTGGTGGCCTGG
AGCTGGTCGCTGGATGGCCTGAGGGACTGCATCGCCACCGGCATCCAGTCCGTGCGGGACTGCGACACCACCGCTGTCATCACTGTGGCCTGCCTCCTGGTCCTC
TTCGTGTGGTACTGTTATCACGTGGGCAGGGAGCAGCCCCGGCCCTACGTCTCCGTCAACTCCCTCATGCAGGCTGCCGATGCCAACGGGCTGCAGAATGGCTAC
GTGTACTGCCAGTCCCCTGAGTGCGTGCGCTGCACCCACAACGAGGGCCTCAACCAGAAGCTGTACCACAACCTGCAGGAGTACGCCAAGCGCTACTCCTGGTCC
GGCATGGGCCGCATCCACAAGGGCATCCGCGAGCAGGGCCGGTACCTCAACAGCCGGCCCTCCATCCAGAAGCCCGAGGTCTTCTTCCTGCCCGACCTGCCCACC
ACGCCCTATTTCTCCCGGGACGCACAGAAACATGATGTGGAAGTGCTGGAACGGAACTTCCAGACCATCCTGTGTGAGTTTGAGACCCTCTACAAAGCTTTCTCA
AACTGCAGCCTCCCGCAAGGATGGAAAATGAACAGCACCCCCAGCGGGGAGTGGTTCACCTTTTACTTGGTCAATCAGGGGGTTTGTGTTCCCAGGAACTGTAGG
AAGTGCCCACGGACGTACCGCTTGCTCGGAAGCCTTCGGACCTGTATTGGGAACAATGTTTTTGGGAACGCGTGCATCTCTGTGCTGAGCCCTGGGACTGTGATA
ACGGAGCACTATGGACCCACCAACATCCGCATCCGATGCCATTTAGGTCTGAAAACTCCAAATGGCTGTGAGCTGGTGGTGGGGGGAGAGCCCCAGTGCTGGGCA
GAAGGGCGCTGCCTTCTCTTTGATGACTCTTTCCTGCATGCTGCGTTCCATGAAGGTTCAGCAGAGGATGGCCCACGGGTGGTTTTCATGGTGGATTTGTGGCAT
CCAAACGTCGCAGCGGCCGAACGGCAGGCTCTTGATTTCATCTTTGCTCCGGGACGATGA
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>ASPHD2|57168|protein
MVWAPLGPPRTDCLTLLHTPSKDSPKMSLEWLVAWSWSLDGLRDCIATGIQSVRDCDTTAVITVACLLVLFVWYCYHVGREQPRPYVSVNSLMQAADANGLQNGY
VYCQSPECVRCTHNEGLNQKLYHNLQEYAKRYSWSGMGRIHKGIREQGRYLNSRPSIQKPEVFFLPDLPTTPYFSRDAQKHDVEVLERNFQTILCEFETLYKAFS
NCSLPQGWKMNSTPSGEWFTFYLVNQGVCVPRNCRKCPRTYRLLGSLRTCIGNNVFGNACISVLSPGTVITEHYGPTNIRIRCHLGLKTPNGCELVVGGEPQCWA
EGRCLLFDDSFLHAAFHEGSAEDGPRVVFMVDLWHPNVAAAERQALDFIFAPGR

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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top