Evidence Details for SYTL2
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 Links | Entrez 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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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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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, qPCR | ASD | - | - | - | - | 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 | |||
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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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