AutismKB 2.0

Evidence Details for SEPT10


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SEPT10 ( FLJ11619 )
Gene Full Name: septin 10
Band: 2q13
Quick LinksEntrez ID:151011; OMIM: 611737; Uniprot ID:SEP10_HUMAN; ENSEMBL ID: ENSG00000186522; HGNC ID: 14349
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEPT10|151011|nucleotide
ATGGCCTCCTCCGAGGTGGCGCGGCACCTGCTCTTTCAGTCTCACATGGCAACGAAAACAACTTGTATGTCTTCACAAGGATCAGATGATGAACAGATAAAAAGA
GAAAACATTCGTTCGTTGACTATGTCTGGCCATGTTGGTTTTGAGAGTTTGCCTGATCAGCTGGTGAACAGATCCATTCAGCAAGGTTTCTGCTTTAATATTCTC
TGTGTGGGGGAAACTGGAATTGGAAAATCAACACTGATTGACACATTGTTTAATACTAATTTTGAAGACTATGAATCCTCACATTTTTGCCCAAATGTTAAACTT
AAAGCTCAGACATATGAACTCCAGGAAAGTAATGTTCAATTGAAATTGACCATTGTGAATACAGTGGGATTTGGTGACCAAATAAATAAAGAAGAGAGCTACCAA
CCAATAGTTGACTACATAGATGCTCAGTTTGAGGCCTATCTCCAAGAAGAACTGAAGATTAAGCGTTCTCTCTTTACCTACCATGATTCTCGCATCCATGTGTGT
CTCTACTTCATTTCACCGACAGGCCACTCTCTGAAGACACTTGATCTCTTAACCATGAAGAACCTTGACAGCAAGGTAAACATTATACCAGTGATTGCCAAAGCA
GATACGGTTTCTAAAACTGAATTACAGAAGTTTAAGATCAAGCTCATGAGTGAATTGGTCAGCAATGGCGTCCAGATATACCAGTTCCCAACGGATGATGACACT
ATTGCTAAGGTCAACGCTGCAATGAATGGACAGTTGCCGTTTGCTGTTGTGGGAAGTATGGATGAGGTAAAAGTCGGAAACAAGATGGTCAAAGCTCGCCAGTAC
CCTTGGGGTGTTGTACAAGTGGAAAATGAAAACCACTGTGACTTTGTAAAGCTGCGGGAAATGCTCATTTGTACAAATATGGAGGACCTGCGAGAGCAGACCCAT
ACCAGGCACTATGAGCTTTACAGGCGCTGCAAACTGGAGGAAATGGGCTTTACAGATGTGGGCCCAGAAAACAAGCCAGTCAGTGTTCAAGAGACCTATGAAGCC
AAAAGACATGAGTTCCATGGTGAACGTCAGAGGAAGGAAGAAGAAATGAAACAGATGTTTGTGCAGCGAGTAAAGGAGAAAGAAGCCATATTGAAAGAAGCTGAG
Show »

>SEPT10|151011|protein
MASSEVARHLLFQSHMATKTTCMSSQGSDDEQIKRENIRSLTMSGHVGFESLPDQLVNRSIQQGFCFNILCVGETGIGKSTLIDTLFNTNFEDYESSHFCPNVKL
KAQTYELQESNVQLKLTIVNTVGFGDQINKEESYQPIVDYIDAQFEAYLQEELKIKRSLFTYHDSRIHVCLYFISPTGHSLKTLDLLTMKNLDSKVNIIPVIAKA
DTVSKTELQKFKIKLMSELVSNGVQIYQFPTDDDTIAKVNAAMNGQLPFAVVGSMDEVKVGNKMVKARQYPWGVVQVENENHCDFVKLREMLICTNMEDLREQTH
TRHYELYRRCKLEEMGFTDVGPENKPVSVQETYEAKRHEFHGERQRKEEEMKQMFVQRVKEKEAILKEAERELQAKFEHLKRLHQEERMKLEEKRRLLEEEIIAF
SKKKATSEIFHSQSFLATGSNLRKDKDRKNSNFL
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 10 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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.

Simple Query:


  (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