AutismKB 2.0

Evidence Details for SPEF1


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Basic Information Top
Gene Symbol:SPEF1 ( C20orf28,CLAMP,DKFZp434I114,SPEF1A )
Gene Full Name: sperm flagellar 1
Band: 20p13
Quick LinksEntrez ID:25876; OMIM: 610674; Uniprot ID:SPEF1_HUMAN; ENSEMBL ID: ENSG00000101222; HGNC ID: 15874
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPEF1|25876|nucleotide
ATGGCGAGCAGCGTGGACGAGGAGGCGCTGCACCAGCTGTACCTGTGGGTAGACAACATCCCTCTGTCCCGGCCCAAGCGAAACCTCTCCCGGGACTTTAGCGAT
GGAGTCCTTGTTGCAGAGGTCATCAAGTTTTACTTCCCCAAGATGGTGGAGATGCACAATTATGTCCCCGCCAACTCTCTCCAGCAGAAGCTCAGCAACTGGGGT
CATCTGAACAGGAAGGTACTGAAGAGGCTGAACTTTTCAGTACCGGATGACGTGATGCGCAAGATCGCGCAGTGCGCCCCAGGCGTGGTGGAGCTGGTGCTCATC
CCGCTGAGGCAGCGCCTGGAGGAGAGGCAGAGGCGCAGGAAGCAGGGCGCCGGCTCCTTACAGGAGCTGGCTCCCCAGGATGGCAGTGGCTACATGGATGTGGGT
GTATCCCAGAAGGCCCGAGGTGAAGGTGTCCCGGACCCCCAGGGAGGGGGTCAGCTCAGCTGGGACCGGCCGCCGGCGCCTCGGCCTCCAGCGTATAACCGGGCG
TTGCAGGGCGACCCCAGCTTCGTCCTCCAGATCGCTGAAAAGGAGCAGGAGCTGTTGGCCTCTCAAGAGACCGTGCAGGTCCTGCAGATGAAGGTAAGGCGCCTG
GAGCACCTGCTCCAGCTCAAGAATGTGCGGATCGAAGACCTCTCCCGGCGGCTCCAGCAGGCGGAGCGTAAGCAGCGGTGA




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>SPEF1|25876|protein
MASSVDEEALHQLYLWVDNIPLSRPKRNLSRDFSDGVLVAEVIKFYFPKMVEMHNYVPANSLQQKLSNWGHLNRKVLKRLNFSVPDDVMRKIAQCAPGVVELVLI
PLRQRLEERQRRRKQGAGSLQELAPQDGSGYMDVGVSQKARGEGVPDPQGGGQLSWDRPPAPRPPAYNRALQGDPSFVLQIAEKEQELLASQETVQVLQMKVRRL
EHLLQLKNVRIEDLSRRLQQAERKQR


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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (3)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.987152 Down 65.7475
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1738418
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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