AutismKB 2.0

Evidence Details for SYTL2


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Basic Information Top
Gene Symbol:SYTL2 ( CHR11SYT,EXO4,FLJ21219,FLJ34802,FLJ42764,FLJ45597,KIAA1597,MGC102768,SGA72M,SLP2,SLP2A )
Gene Full Name: synaptotagmin-like 2
Band: 11q14.1
Quick LinksEntrez ID:54843; OMIM: 612880; Uniprot ID:SYTL2_HUMAN; ENSEMBL ID: ENSG00000137501; HGNC ID: 15585
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SYTL2|54843|nucleotide
ATGATTGACTTAAGCTTCCTGACTGAAGAGGAACAAGAGGCCATCATGAAGGTTTTGCAGCGGGATGCTGCTCTGAAGAGGGCCGAAGAAGAGAGAGTCAGACAT
TTGCCTGAAAAAATTAAGGATGACCAGCAGCTGAAGAATATGAGTGGCCAATGGTTTTATGAAGCCAAGGCAAAAAGGCACAGGGACAAAATCCATGGCGCAGAT
ATCATCAGAGCATCTATGAGAAAGAAGAGGCCCCAGATAGCAGCTGAGCAGAGTAAAGACAGAGAAAATGGGGCAAAGGAAAGCTGGGTGAATAATGTCAACAAA
GATGCTTTCCTTCCTCCAGAGCTGGCTGGCGTTGTAGAAGAGCCAGAAGAAGATGCAGCACCAGCAAGCCCGAGTTCCAGTGTGGTAAATCCAGCTTCCAGTGTG
ATTGATATGTCCCAGGAAAACACAAGGAAACCAAATGTGTCTCCAGAGAAGAGGAAGAATCCGTTTAATAGCTCCAAGTTGCCAGAAGGTCACTCATCACAACAA
ACTAAAAATGAACAGTCAAAAAATGGAAGAACTGGTTTATTTCAGACTTCAAAAGAGGATGAATTGTCAGAGTCAAAAGAAAAGTCAACTGTCGCAGATACTTCA
ATCCAAAAGTTAGAGAAATCAAAGCAGACTTTGCCAGGCCTTTCAAATGGGTCCCAAATCAAGGCTCCAATCCCCAAAGCCAGGAAGATGATCTACAAATCAACT
GATTTAAACAAAGATGATAACCAGTCTTTTCCTAGACAAAGGACAGACTCCCTGAAAGCGAGAGGGGCTCCGAGAGGGATCCTCAAGCGCAACTCCAGTTCCAGT
AGCACAGACTCAGAAACCCTTCGTTATAATCACAACTTTGAACCCAAAAGCAAAATTGTGTCACCTGGCCTAACCATCCATGAGAGAATTTCTGAGAAGGAGCAT
TCTTTAGAAGACAACTCTTCCCCAAACTCCCTGGAGCCATTAAAGCATGTGAGATTCTCTGCAGTGAAGGATGAGCTTCCACAGAGTCCTGGGCTAATCCATGGT
CGGGAAGTAGGAGAATTTAGTGTTTTAGAATCTGACAGATTGAAAAATGGAATGGAAGATGCAGGGGACACAGAAGAGTTTCAGAGTGACCCTAAGCCTTCTCAA
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>SYTL2|54843|protein
MIDLSFLTEEEQEAIMKVLQRDAALKRAEEERVRHLPEKIKDDQQLKNMSGQWFYEAKAKRHRDKIHGADIIRASMRKKRPQIAAEQSKDRENGAKESWVNNVNK
DAFLPPELAGVVEEPEEDAAPASPSSSVVNPASSVIDMSQENTRKPNVSPEKRKNPFNSSKLPEGHSSQQTKNEQSKNGRTGLFQTSKEDELSESKEKSTVADTS
IQKLEKSKQTLPGLSNGSQIKAPIPKARKMIYKSTDLNKDDNQSFPRQRTDSLKARGAPRGILKRNSSSSSTDSETLRYNHNFEPKSKIVSPGLTIHERISEKEH
SLEDNSSPNSLEPLKHVRFSAVKDELPQSPGLIHGREVGEFSVLESDRLKNGMEDAGDTEEFQSDPKPSQYRKPSLFHQSTSSPYVSKSETHQPMTSGSFPINGL
HSHSEVLTARPQSMENSPTINEPKDKSSELTRLESVLPRSPADELSHCVEPEPSQVPGGSSRDRQQGSEEEPSPVLKTLERSAARKMPSKSLEDISSDSSNQAKV
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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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.813 Up 0.0375
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 232914_s_at
  • RefSeq_ID/ EST: AB046817
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
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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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