AutismKB 2.0

Evidence Details for DENND2D


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Basic Information Top
Gene Symbol:DENND2D ( FLJ22457,RP5-1180E21.2 )
Gene Full Name: DENN/MADD domain containing 2D
Band: 1p13.3-p13.2
Quick LinksEntrez ID:79961; OMIM: NA; Uniprot ID:DEN2D_HUMAN; ENSEMBL ID: ENSG00000162777; HGNC ID: 26192
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DENND2D|79961|nucleotide
ATGGAAGGACAAGTGGTAGGCCGGGTGTTCAGGCTCTTCCAACGCCGACTGCTTCAACTCCGAGCAGGACCACCCCAGGACAATTCAGGGGAAGCTTTAAAGGAA
CCAGAAAGGGCCCAGGAGCACTCTTTGCCCAACTTTGCTGGGGGGCAGCACTTCTTTGAATACCTTCTTGTGGTTTCTCTCAAAAAGAAGCGTTCAGAGGATGAT
TACGAGCCTATAATCACCTACCAATTTCCCAAGCGGGAGAACCTGCTTCGGGGTCAGCAGGAGGAGGAGGAGCGGCTGCTCAAAGCTATCCCCTTGTTCTGCTTC
CCAGATGGGAATGAGTGGGCATCACTCACCGAGTATCCCAGGGAGACCTTCTCCTTCGTTCTGACCAATGTGGATGGGAGCAGAAAGATTGGATACTGCAGGCGC
CTCTTGCCTGCCGGCCCTGGCCCTCGCCTTCCCAAAGTGTACTGCATCATCAGCTGCATCGGCTGCTTCGGCTTGTTCTCCAAGATCCTGGATGAAGTGGAGAAG
AGACATCAGATCTCCATGGCTGTCATCTACCCGTTCATGCAGGGCCTCCGAGAGGCAGCCTTCCCTGCTCCTGGGAAGACTGTCACTCTCAAGAGCTTCATCCCC
GACTCAGGCACTGAGTTCATTTCACTGACACGGCCCCTGGACTCCCACCTAGAACATGTGGATTTTAGTTCTCTATTGCACTGTCTCAGTTTTGAACAGATACTT
CAGATCTTTGCCTCTGCCGTGCTGGAGAGAAAAATCATCTTCCTGGCGGAAGGTCTCAGCACCTTGTCTCAGTGCATCCATGCTGCTGCCGCACTGCTCTACCCC
TTCAGCTGGGCGCACACCTACATCCCTGTTGTCCCTGAGAGCCTTCTGGCCACCGTCTGCTGCCCCACCCCCTTCATGGTTGGAGTACAAATGCGCTTCCAGCAG
GAGGTCATGGACAGCCCTATGGAAGAGGTCCTGCTGGTCAATCTTTGTGAAGGAACCTTCTTAATGTCGGTTGGTGATGAAAAAGACATCCTGCCACCGAAGCTT
CAGGATGACATCTTAGACTCTCTTGGTCAGGGGATCAATGAGTTAAAGACTGCAGAACAAATCAACGAGCATGTTTCAGGCCCCTTTGTGCAGTTCTTTGTCAAG
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>DENND2D|79961|protein
MEGQVVGRVFRLFQRRLLQLRAGPPQDNSGEALKEPERAQEHSLPNFAGGQHFFEYLLVVSLKKKRSEDDYEPIITYQFPKRENLLRGQQEEEERLLKAIPLFCF
PDGNEWASLTEYPRETFSFVLTNVDGSRKIGYCRRLLPAGPGPRLPKVYCIISCIGCFGLFSKILDEVEKRHQISMAVIYPFMQGLREAAFPAPGKTVTLKSFIP
DSGTEFISLTRPLDSHLEHVDFSSLLHCLSFEQILQIFASAVLERKIIFLAEGLSTLSQCIHAAAALLYPFSWAHTYIPVVPESLLATVCCPTPFMVGVQMRFQQ
EVMDSPMEEVLLVNLCEGTFLMSVGDEKDILPPKLQDDILDSLGQGINELKTAEQINEHVSGPFVQFFVKIVGHYASYIKREANGQGHFQERSFCKALTSKTNRR
FVKKFVKTQLFSLFIQEAEKSKNPPAGYFQQKILEYEEQKKQKKPREKTVK
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top