AutismKB 2.0

Evidence Details for DNAH7


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Basic Information Top
Gene Symbol:DNAH7 ( DKFZp686C09101,FLJ37196,KIAA0944,MGC39580 )
Gene Full Name: dynein, axonemal, heavy chain 7
Band: 2q32.3
Quick LinksEntrez ID:56171; OMIM: 610061; Uniprot ID:DYH7_HUMAN; ENSEMBL ID: ENSG00000118997; HGNC ID: 18661
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAH7|56171|nucleotide
ATGAGCAGTGAGCAGGATAAATCGGCCAGCAAAGAAAAATCCAAGAAACCAGTAAGATTTCTACCACAGCTGTCTATGGAGAAATTAGCCAGCAAAGAAAAGTTC
AAGGCACCAGCAAGAGCTTTACCACAGCTGTCTATGGTGAGTACAAAGCCCCACTGGCAGCAGGCAGCTCCATCATTCCATTTGAGTGTAAAGCAGGATGATGAG
AGTCCAGAACCATTTAGTGTTAAAAATGAACAGTCCCATGCTGAATACATGGAACGTTTTGGAAAAAAGGGCAAATTACCCCACCAAGTTGATGATAGTTATGTT
GGACCATCTACTTCCAAATCAAAGGGCAAATCTCCACATAAAGAACGAGAAAACTTTAGAAGTACTCTTGTTAATGTCATTATGCAACAAGATGCTGACTTAGAC
TCAGCTGTCCCTGATGGAAGCACAATTCCAAAACCGACCGCTTCTGCTATAGAGAAAGACATCTTGAGATATTACTATTATATTCACCATGGAATTGATACAGAC
CATGTAGCCCCAATGGAAGATTCTTGGCTAGAACACGTACTGGATTTAGTTCCACAACATCTGAAAGTCTTCACTGACAGCATAGTTACATTATCTGATGAAATG
AGAGAGGATTATCTTCTTAGTGTAAGGAAATCCATAGTTGATTTTGTTTTAAAAGATCCTCGAGAGAAAGGAGATGATAAGAAGACAGATGAACTTCCAGCCCAT
CGTGCTGAAATGGAAATTCTGCCAAAACCTTGGAGGAAATCTTTTTTAGCTGCAAGCAGTTATATTAGGGATCACTTGAATGCAATGAACCCCACAATGCTGGCT
GTACTAGATTTGTGGCACACTAATTTTAAAAAATTACGTTTAGTTGATATCAAAGAATTTCATAATTGCCAGGATGCATTAGAGCTGTCAAGTTTTCAGAACATT
ATCATGAGACACATGGACTCTGCCAAAGAGACTCTACTTAAAATGTGGTTTCCAGAAGTGCAGAATATTTATTACCAAGGTAATAAAAAAAAGCAATTGCCAACT
GGTGACAGCAGTGCCAAATTGGAATCTTTTTTCAACTGTGCTGCTGCACTTATGACTTTACAGCTGCAGGACCTCACTTTAGTCTCCATGCAAGATTTCACGGAC
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>DNAH7|56171|protein
MSSEQDKSASKEKSKKPVRFLPQLSMEKLASKEKFKAPARALPQLSMVSTKPHWQQAAPSFHLSVKQDDESPEPFSVKNEQSHAEYMERFGKKGKLPHQVDDSYV
GPSTSKSKGKSPHKERENFRSTLVNVIMQQDADLDSAVPDGSTIPKPTASAIEKDILRYYYYIHHGIDTDHVAPMEDSWLEHVLDLVPQHLKVFTDSIVTLSDEM
REDYLLSVRKSIVDFVLKDPREKGDDKKTDELPAHRAEMEILPKPWRKSFLAASSYIRDHLNAMNPTMLAVLDLWHTNFKKLRLVDIKEFHNCQDALELSSFQNI
IMRHMDSAKETLLKMWFPEVQNIYYQGNKKKQLPTGDSSAKLESFFNCAAALMTLQLQDLTLVSMQDFTDLIAQPPDSVRAFEHPGFIMRLILDNDTIKFEPELS
DYIDIFLNVYDVMIKAVSFVPRVETKLYSKWESKSKPTTLKPIILNEIVDAHKEKIKEVIMKESVAPTEHLRLYDKYDFLITRKAERDVDNFLAENHSYEKIIDE
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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 (1) 0 (0) 0 (1) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 2 (5)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top