AutismKB 2.0

Evidence Details for SP100


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Basic Information Top
Gene Symbol:SP100 ( DKFZp686E07254,FLJ00340,FLJ34579 )
Gene Full Name: SP100 nuclear antigen
Band: 2q37.1
Quick LinksEntrez ID:6672; OMIM: 604585; Uniprot ID:SP100_HUMAN; ENSEMBL ID: ENSG00000067066; HGNC ID: 11206
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SP100|6672|nucleotide
ATGGCAGGTGGGGGCGGCGACCTGAGCACCAGGAGGCTGAATGAATGTATTTCACCAGTAGCAAATGAGATGAACCATCTTCCTGCACACAGCCACGATTTGCAA
AGGATGTTCACGGAAGACCAGGGTGTAGATGACAGGCTGCTCTATGACATTGTATTCAAGCACTTCAAAAGAAATAAGGTGGAGATTTCAAATGCAATAAAAAAG
ACATTTCCATTCCTCGAGGGCCTCCGTGATCGTGATCTCATCACAAATAAAATGTTTGAAGATTCTCAAGATTCTTGTAGAAACCTGGTCCCTGTACAGAGAGTG
GTGTACAATGTTCTTAGTGAACTGGAGAAGACATTTAACCTGCCAGTTCTGGAAGCACTGTTCAGCGATGTCAACATGCAGGAATACCCCGATTTAATTCACATT
TATAAAGGCTTTGAAAATGTAATCCATGACAAATTGCCTCTCCAAGAAAGTGAAGAAGAAGAGAGGGAGGAGAGGTCTGGCCTCCAACTAAGTCTTGAACAAGGA
ACTGGTGAAAACTCTTTTCGAAGCCTGACTTGGCCACCTTCGGGTTCCCCATCTCATGCTGGTACAACCCCACCTGAAAATGGACTCTCAGAGCACCCCTGTGAA
ACAGAACAGATAAATGCAAAGAGAAAAGATACAACCAGTGACAAAGATGATTCGCTAGGAAGCCAACAAACAAATGAACAATGTGCTCAAAAGGCTGAGCCAACA
GAGTCCTGCGAACAAATTGCTGTCCAAGTGAATAATGGGGATGCTGGAAGGGAGATGCCCTGCCCGTTGCCCTGTGATGAAGAAAGCCCAGAGGCAGAGCTACAC
AACCATGGAATCCAAATTAATTCCTGTTCTGTGCGACTGGTGGATATAAAAAAGGAAAAGCCATTTTCTAATTCAAAAGTTGAGTGCCAAGCCCAAGCAAGAACT
CATCATAACCAGGCATCTGACATAATAGTCATCAGCAGTGAGGACTCTGAAGGATCCACTGACGTTGATGAGCCCTTAGAAGTCTTCATCTCAGCACCGAGAAGT
GAGCCTGTGATCAATAATGACAACCCTTTAGAATCAAATGATGAAAAGGAGGGCCAAGAAGCCACTTGCTCACGACCCCAGATTGTACCAGAGCCCATGGATTTC
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>SP100|6672|protein
MAGGGGDLSTRRLNECISPVANEMNHLPAHSHDLQRMFTEDQGVDDRLLYDIVFKHFKRNKVEISNAIKKTFPFLEGLRDRDLITNKMFEDSQDSCRNLVPVQRV
VYNVLSELEKTFNLPVLEALFSDVNMQEYPDLIHIYKGFENVIHDKLPLQESEEEEREERSGLQLSLEQGTGENSFRSLTWPPSGSPSHAGTTPPENGLSEHPCE
TEQINAKRKDTTSDKDDSLGSQQTNEQCAQKAEPTESCEQIAVQVNNGDAGREMPCPLPCDEESPEAELHNHGIQINSCSVRLVDIKKEKPFSNSKVECQAQART
HHNQASDIIVISSEDSEGSTDVDEPLEVFISAPRSEPVINNDNPLESNDEKEGQEATCSRPQIVPEPMDFRKLSTFRESFKKRVIGQDHDFSESSEEEAPAEASS
GALRSKHGEKAPMTSRSTSTWRIPSRKRRFSSSDFSDLSNGEELQETCSSSLRRGSGSQPQEPENKKCSCVMCFPKGVPRSQEARTESSQASDMMDTMDVENNST
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top