AutismKB 2.0

Evidence Details for MFSD7


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Basic Information Top
Gene Symbol:MFSD7 ( FLJ22269 )
Gene Full Name: major facilitator superfamily domain containing 7
Band: 4p16.3
Quick LinksEntrez ID:84179; OMIM: NA; Uniprot ID:MFSD7_HUMAN; ENSEMBL ID: ENSG00000169026; HGNC ID: 26177
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MFSD7|84179|nucleotide
ATGGCGGGGCCGACGGAGGCCGAGACGGGGTTGGCCGAGCCCCGGGCCCTGTGCGCGCAGCGGGGCCACCGCACCTACGCGCGCCGCTGGGTGTTCCTGCTCGCG
ATCAGCCTGCTCAACTGCTCCAACGCCACGCTGTGGCTCAGCTTTGCACCTGTGGCTGACGTCATTGCTGAGGACTTGGTCCTGTCCATGGAGCAGATCAACTGG
CTGTCACTGGTCTACCTCGTGGTATCCACCCCATTTGGCGTGGCGGCCATCTGGATCCTGGACTCCGTCGGGCTCCGTGCGGCGACCATCCTGGGTGCGTGGCTG
AACTTTGCCGGGAGTGTGCTACGCATGGTGCCCTGCATGGTTGTTGGGACCCAAAACCCATTTGCCTTCCTCATGGGTGGCCAGAGCCTCTGTGCCCTTGCCCAG
AGCCTGGTCATCTTCTCTCCAGCCAAGCTGGCTGCCTTGTGGTTCCCAGAGCACCAGCGAGCCACGGCCAACATGCTCGCCACCATGTCGAACCCTCTGGGCGTC
CTTGTGGCCAATGTGCTGTCCCCTGTGCTGGTCAAGAAGGGTGAGGACATTCCGTTAATGCTCGGTGTCTATACCATCCCTGCTGGCGTCGTCTGCCTGCTGTCC
ACCATCTGCCTGTGGGAGAGTGTGCCCCCCACCCCGCCCTCTGCCGGGGCTGCCAGCTCCACCTCAGAGAAGTTCCTGGATGGGCTCAAGCTGCTCATGTGGAAC
AAGGCCTATGTCATCCTGGCTGTGTGCTTGGGGGGAATGATCGGGATCTCTGCCAGCTTCTCAGCCCTCCTGGAGCAGATCCTCTGTGCAAGCGGCCACTCCAGT
GGGTTTTCCGGCCTCTGTGGCGCTCTCTTCATCACGTTTGGGATCCTGGGGGCACTGGCTCTCGGCCCCTATGTGGACCGGACCAAGCACTTCACTGAGGCCACC
AAGATTGGCCTGTGCCTGTTCTCTCTGGCCTGCGTGCCCTTTGCCCTGGTGTCCCAGCTGCAGGGACAGACCCTTGCCCTGGCTGCCACCTGCTCGCTGCTCGGG
CTGTTTGGCTTCTCGGTGGGCCCCGTGGCCATGGAGTTGGCGGTCGAGTGTTCCTTCCCCGTGGGGGAGGGGGCTGCCACAGGCATGATCTTTGTGCTGGGGCAG
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>MFSD7|84179|protein
MAGPTEAETGLAEPRALCAQRGHRTYARRWVFLLAISLLNCSNATLWLSFAPVADVIAEDLVLSMEQINWLSLVYLVVSTPFGVAAIWILDSVGLRAATILGAWL
NFAGSVLRMVPCMVVGTQNPFAFLMGGQSLCALAQSLVIFSPAKLAALWFPEHQRATANMLATMSNPLGVLVANVLSPVLVKKGEDIPLMLGVYTIPAGVVCLLS
TICLWESVPPTPPSAGAASSTSEKFLDGLKLLMWNKAYVILAVCLGGMIGISASFSALLEQILCASGHSSGFSGLCGALFITFGILGALALGPYVDRTKHFTEAT
KIGLCLFSLACVPFALVSQLQGQTLALAATCSLLGLFGFSVGPVAMELAVECSFPVGEGAATGMIFVLGQAEGILIMLAMTALTVRRSEPSLSTCQQGEDPLDWT
VSLLLMAGLCTFFSCILAVFFHTPYRRLQAESGEPPSTRNAVGGADSGPGVDRGGAGRAGVLGPSTATPECTARGASLEDPRGPGSPHPACHRATPRAQGPAATD
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018