AutismKB 2.0

Evidence Details for SUMF2


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Basic Information Top
Gene Symbol:SUMF2 ( DKFZp566I1024,DKFZp686I1024,DKFZp686L17160,DKFZp781L1035,MGC99485,pFGE )
Gene Full Name: sulfatase modifying factor 2
Band: 7p11.2
Quick LinksEntrez ID:25870; OMIM: 607940; Uniprot ID:SUMF2_HUMAN; ENSEMBL ID: ENSG00000129103; HGNC ID: 20415
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SUMF2|25870|nucleotide
ATGAGGGCGCATGCGCAGCGGGGCCGTGGGTGTACGCGGCGCAGCGCGGCAGTCCTGATGGCCCGGCATGGGTTACCGCTGCTGCCCCTGCTGTCGCTCCTGGTC
GGCGCGTGGCTCAAGCTAGGAAATGGACAGGCTACTAGCATGGTCCAACTGCAGGGTGGGAGATTCCTGATGGGAACAAATTCTCCAGACAGCAGAGATGGTGAA
GGGCCTGTGCGGGAGGCGACAGTGAAACCCTTTGCCATCGACATATTTCCTGTCACCAACAAAGATTTCAGGGATTTTGTCAGGGAGAAAAAGTATCGGACAGAA
GCTGAGATGTTTGGATGGAGCTTTGTCTTTGAGGACTTTGTCTCTGATGAGCTGAGAAACAAAGCCACCCAGCCAATGAAGCCTGCAGGTCCTGGCTCTGGCATC
CGAGAGAGACTGGAGCACCCAGTGTTACACGTGAGCTGGAATGACGCCCGTGCCTACTGTGCTTGGCGGGGAAAACGACTGCCCACGGAGGAAGAGTGGGAGTTT
GCCGCCCGAGGGGGCTTGAAGGGTCAAGTTTACCCATGGGGGAACTGGTTCCAGCCAAACCGCACCAACCTGTGGCAGGGAAAGTTCCCCAAGGGAGACAAAGCT
GAGGATGGCTTCCATGGAGTCTCCCCAGTGAATGCTTTCCCCGCCCAGAACAACTACGGGCTCTATGACCTCCTGGGGAACGTGTGGGAGTGGACAGCATCACCG
TACCAGGCTGCTGAGCAGGACATGCGCGTCCTCCGGGGGGCATCCTGGATCGACACAGCTGATGGCTCTGCCAATCACCGGGCCCGGGTCACCACCAGGATGGGC
AACACTCCAGATTCAGCCTCAGACAACCTCGGTTTCCGCTGTGCTGCAGACGCAGGCCGGCCGCCAGGGGAGCTGTAA


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>SUMF2|25870|protein
MRAHAQRGRGCTRRSAAVLMARHGLPLLPLLSLLVGAWLKLGNGQATSMVQLQGGRFLMGTNSPDSRDGEGPVREATVKPFAIDIFPVTNKDFRDFVREKKYRTE
AEMFGWSFVFEDFVSDELRNKATQPMKPAGPGSGIRERLEHPVLHVSWNDARAYCAWRGKRLPTEEEWEFAARGGLKGQVYPWGNWFQPNRTNLWQGKFPKGDKA
EDGFHGVSPVNAFPAQNNYGLYDLLGNVWEWTASPYQAAEQDMRVLRGASWIDTADGSANHRARVTTRMGNTPDSASDNLGFRCAADAGRPPGEL


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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top