AutismKB 2.0

Evidence Details for STAB2


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Basic Information Top
Gene Symbol:STAB2 ( DKFZp434E0321,FEEL2,FELE-2,FELL2,FEX2,HARE )
Gene Full Name: stabilin 2
Band: 12q23.3
Quick LinksEntrez ID:55576; OMIM: 608561; Uniprot ID:STAB2_HUMAN; ENSEMBL ID: ENSG00000136011; HGNC ID: 18629
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STAB2|55576|nucleotide
ATGATGCTACAACATTTAGTAATTTTTTGTCTTGGATTGGTTGTACAAAATTTCTGCTCCCCAGCTGAAACCACAGGGCAGGCAAGAAGATGTGATAGGAAGTCT
CTTCTTACAATTAGGACCGAGTGCCGATCCTGCGCTCTCAACCTTGGAGTCAAGTGCCCGGATGGTTACACCATGATTACCAGTGGCTCTGTAGGGGTTCGAGAT
TGCAGGTACACCTTTGAGGTCAGAACATACTCTCTGTCTCTCCCCGGATGCCGCCATATTTGTAGGAAGGACTATCTCCAACCTCGGTGTTGTCCTGGCCGCTGG
GGCCCAGACTGTATAGAGTGCCCAGGTGGAGCGGGGTCACCCTGCAATGGCAGAGGCAGTTGTGCTGAAGGCATGGAAGGAAATGGAACCTGCTCCTGCCAAGAA
GGGTTTGGTGGAACAGCCTGTGAAACCTGTGCTGACGACAACTTATTTGGACCCAGCTGTTCATCAGTGTGCAACTGTGTGCATGGGGTGTGCAACAGTGGACTA
GATGGCGATGGAACCTGTGAGTGCTACTCTGCGTACACTGGCCCCAAGTGTGACAAGCCCATCCCTGAATGTGCAGCCTTGCTCTGCCCAGAAAATTCCAGATGT
TCGCCTTCCACTGAAGATGAAAACAAACTGGAATGCAAATGCCTTCCCAATTACCGAGGCGATGGCAAATACTGCGACCCCATCAATCCATGTTTACGAAAAATC
TGCCACCCTCATGCTCATTGTACGTACCTGGGACCAAATCGGCACAGTTGTACATGCCAAGAAGGCTACCGTGGGGATGGCCAAGTGTGCTTGCCTGTGGACCCC
TGCCAAATTAACTTTGGAAACTGCCCTACAAAGTCTACAGTGTGCAAATATGATGGGCCTGGACAGTCTCACTGCGAGTGTAAGGAGCATTACCAGAATTTCGTA
CCTGGAGTGGGGTGCAGTATGACTGATATATGTAAATCAGATAACCCGTGTCATAGGAATGCAAATTGCACCACCGTCGCACCAGGCCGAACTGAATGCATTTGC
CAGAAAGGTTACGTGGGTGATGGCTTAACGTGTTATGGAAACATTATGGAGCGACTCAGAGAATTAAATACTGAACCCAGAGGAAAATGGCAAGGAAGGCTGACC
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>STAB2|55576|protein
MMLQHLVIFCLGLVVQNFCSPAETTGQARRCDRKSLLTIRTECRSCALNLGVKCPDGYTMITSGSVGVRDCRYTFEVRTYSLSLPGCRHICRKDYLQPRCCPGRW
GPDCIECPGGAGSPCNGRGSCAEGMEGNGTCSCQEGFGGTACETCADDNLFGPSCSSVCNCVHGVCNSGLDGDGTCECYSAYTGPKCDKPIPECAALLCPENSRC
SPSTEDENKLECKCLPNYRGDGKYCDPINPCLRKICHPHAHCTYLGPNRHSCTCQEGYRGDGQVCLPVDPCQINFGNCPTKSTVCKYDGPGQSHCECKEHYQNFV
PGVGCSMTDICKSDNPCHRNANCTTVAPGRTECICQKGYVGDGLTCYGNIMERLRELNTEPRGKWQGRLTSFISLLDKAYAWPLSKLGPFTVLLPTDKGLKGFNV
NELLVDNKAAQYFVKLHIIAGQMNIEYMNNTDMFYTLTGKSGEIFNSDKDNQIKLKLHGGKKKVKIIQGDIIASNGLLHILDRAMDKLEPTFESNNEQTIMTMLQ
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top