AutismKB 2.0

Evidence Details for SREBF2


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Basic Information Top
Gene Symbol:SREBF2 ( SREBP2,bHLHd2 )
Gene Full Name: sterol regulatory element binding transcription factor 2
Band: 22q13.2
Quick LinksEntrez ID:6721; OMIM: 600481; Uniprot ID:SRBP2_HUMAN; ENSEMBL ID: ENSG00000198911; HGNC ID: 11290
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SREBF2|6721|nucleotide
ATGGACGACAGCGGCGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGAGATGCTGCAATTTGTC
AGTAATCAAGTGGGAGAGTTCCCTGACTTGTTTTCAGAACAGCTGTGTAGCTCCTTTCCTGGCAGTGGTGGTAGTGGTAGCAGCAGCGGCAGCAGTGGCAGCAGC
AGCAGCAGCAGCAATGGCAGGGGCAGCAGCAGCGGAGCTGTGGACCCTTCAGTGCAACGGTCATTCACCCAGGTCACATTACCTTCCTTCTCTCCCTCGGCGGCC
TCCCCACAGGCTCCAACTCTGCAAGTCAAGGTTTCTCCCACCTCAGTTCCCACCACACCCAGGGCAACTCCTATTCTTCAGCCCCGCCCCCAGCCCCAGCCTCAA
CCTCAAACTCAGCTGCAACAACAGACGGTAATGATCACGCCAACATTCAGCACCACTCCGCAGACGAGGATCATCCAGCAGCCTTTGATATACCAGAATGCAGCT
ACTAGCTTTCAAGTCCTTCAGCCTCAAGTCCAAAGCCTGGTGACATCCTCCCAGGTACAGCCGGTCACCATTCAGCAGCAGGTGCAGACAGTACAGGCCCAGCGG
GTGCTGACACAAACGGCCAATGGCACGCTGCAGACCCTTGCCCCGGCTACGGTGCAGACAGTTGCTGCGCCACAGGTGCAGCAGGTCCCGGTCCTGGTCCAGCCT
CAGATCATCAAGACAGATTCCCTTGTTTTGACCACACTGAAGACAGATGGCAGCCCTGTTATGGCTGCGGTCCAGAACCCGGCCCTCACCGCCCTCACCACCCCT
ATCCAGACGGCTGCCCTTCAAGTACCAACCCTGGTGGGCAGCAGTGGGACCATTCTGACCACAATGCCTGTAATGATGGGGCAAGAGAAAGTGCCCATTAAGCAG
GTACCTGGGGGAGTCAAGCAGCTTGAGCCCCCCAAAGAAGGAGAAAGGCGGACAACCCATAATATCATTGAGAAACGATATCGCTCCTCCATCAATGACAAAATC
ATCGAATTGAAAGACCTGGTCATGGGGACAGACGCCAAGATGCACAAGTCTGGCGTTCTGAGGAAGGCCATTGATTACATCAAATACTTGCAGCAGGTCAATCAT
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>SREBF2|6721|protein
MDDSGELGGLETMETLTELGDELTLGDIDEMLQFVSNQVGEFPDLFSEQLCSSFPGSGGSGSSSGSSGSSSSSSNGRGSSSGAVDPSVQRSFTQVTLPSFSPSAA
SPQAPTLQVKVSPTSVPTTPRATPILQPRPQPQPQPQTQLQQQTVMITPTFSTTPQTRIIQQPLIYQNAATSFQVLQPQVQSLVTSSQVQPVTIQQQVQTVQAQR
VLTQTANGTLQTLAPATVQTVAAPQVQQVPVLVQPQIIKTDSLVLTTLKTDGSPVMAAVQNPALTALTTPIQTAALQVPTLVGSSGTILTTMPVMMGQEKVPIKQ
VPGGVKQLEPPKEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKSGVLRKAIDYIKYLQQVNHKLRQENMVLKLANQKNKLLKGIDLGSLVDNEVDLK
IEDFNQNVLLMSPPASDSGSQAGFSPYSIDSEPGSPLLDDAKVKDEPDSPPVALGMVDRSRILLCVLTFLCLSFNPLTSLLQWGGAHDSDQHPHSGSGRSVLSFE
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (1) 0 (0) 2 (6)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top