AutismKB 2.0

Evidence Details for MAP7D2


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Basic Information Top
Gene Symbol:MAP7D2 ( FLJ14503,MGC104944 )
Gene Full Name: MAP7 domain containing 2
Band: Xp22.12
Quick LinksEntrez ID:256714; OMIM: NA; Uniprot ID:MA7D2_HUMAN; ENSEMBL ID: ENSG00000184368; HGNC ID: 25899
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAP7D2|256714|nucleotide
ATGGAGCGCGGCGGCGGCGGCTCCGGGACGGGATCCCGGCCTGAGGGGACTGCGCGGGGAACCTCTCTCCCAGGGAAGATCGCAGAACCGGGCGCGGTGCGGACC
TCTCAGCCCAACTACCGGCCTCAAGGCATGGAGGGATTTTTGAAATCAGATGAGAGGCAGAGATTGGCCAAAGAAAGACGAGAAGAAAGAGAAAAATGTCTGGCT
GCTCGGGAGCAACAGATCCTGGAGAAACAGAAAAGAGCCAGGCTGCAGTACGAAAAGCAAATGGAGGAGCGATGGCGAAAACTGGAAGAGCAGCGGCAGCGGGAG
GACCAAAAGAGAGCTGCTGTGGAAGAGAAAAGGAAACAGAAGCTCCGGGAGGAGGAGGAACGGCTGGAGGCGATGATGCGCCGGTCCCTGGAGCGCACACAGCAG
CTGGAGCTGAAAAAGAAGTATTCGTGGGGAGCACCACTGGCCATTGGACCCGGAGGACATGATGCATGTGACAAACTTTCAACATCAACTATGAGTTTGCCAAAG
CCAACGGAGCCTCCCATGAATAAACGCCTGTCTTCATCCACCGTGGCAATATCCTATTCCCCAGACCGAGCTCATCACATGCACCTTAGTCCAATGGAAGCCATT
CTTGTTTCGCGACTGTTGACACCCACACAGTCTTCTTTAGCCAGAAGCAGAGCTTCAGTCATGCTCTCTGGGCAGGCCAATGATTCAGTATTCCATGTCTGTCCT
CGTTTAGCTCCTCTTGGCCCTCTTAACCCTTCTTACAAGTCTTCACCCACTCGAAACATTGAGAAGAAGAAAGCTACATCTACGTCTACATCTGGTGCAGGAGAT
GTTGGGAAAGAAGCCCTTTCAGGAGGAGAGGCCTCTCTGGTGGAGAAGGTGAAGCGGGGGCAACGAACAGCAACTTCTCTTCCTGTTGTGAACTTCGGGTCCCCT
CTGAGAAGATGTGAGTTTTCTGGAGGCATTCCTAAGAGACCATCTTCTCCTGTGATATCCAAGACAGCTACTAAAGCTTATCCACAGTCTCCAAAGACAACGAAA
CCTCCCTACCCAGGGTCTCCTGTGAAGTACCGCTTACCTGCCCTTTCTGGCCAAGACATGCCCAAGAGGAAAGCGGAGAAAGAGAAGAGCAACAAGGAAAGGGAA
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>MAP7D2|256714|protein
MERGGGGSGTGSRPEGTARGTSLPGKIAEPGAVRTSQPNYRPQGMEGFLKSDERQRLAKERREEREKCLAAREQQILEKQKRARLQYEKQMEERWRKLEEQRQRE
DQKRAAVEEKRKQKLREEEERLEAMMRRSLERTQQLELKKKYSWGAPLAIGPGGHDACDKLSTSTMSLPKPTEPPMNKRLSSSTVAISYSPDRAHHMHLSPMEAI
LVSRLLTPTQSSLARSRASVMLSGQANDSVFHVCPRLAPLGPLNPSYKSSPTRNIEKKKATSTSTSGAGDVGKEALSGGEASLVEKVKRGQRTATSLPVVNFGSP
LRRCEFSGGIPKRPSSPVISKTATKAYPQSPKTTKPPYPGSPVKYRLPALSGQDMPKRKAEKEKSNKEREGTLAQQAAGPQGEEALEKHVVDKHASEKHAAAAGG
KAENSAALGKPTAGTTDAGEAAKILAEKRRQARLQKEQEEQERLEKEEQDRLEREELKRKAEEERLRLEEEARKQEEERKRQEEEKKKQEGEEKRKAGEEAKRKA
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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) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 3 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top