AutismKB 2.0

Evidence Details for MFHAS1


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Basic Information Top
Gene Symbol:MFHAS1 ( FLJ23354,LRRC65,MASL1 )
Gene Full Name: malignant fibrous histiocytoma amplified sequence 1
Band: 8p23.1
Quick LinksEntrez ID:9258; OMIM: 605352; Uniprot ID:MFHA1_HUMAN; ENSEMBL ID: ENSG00000147324; HGNC ID: 16982
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MFHAS1|9258|nucleotide
ATGGCTGGGATGGACAGTGGCAACCTGAAGACCGCGAGGCTGTGGCGGGACGCCGCCCTGCGTGCCAGGAAGCTGCGGAGCAACCTGCGCCAGCTCACGCTTACC
GCCGCCGGGGCCTGCCCCGGGGCCGGGGCCGACGCGCTCGAGTCCCCCGCCTCCCCCCAGCTCGTGCTGCCGGCCAACCTCGGGGACATTGAGGCACTGAACCTG
GGGAACAACGGCCTGGAGGAGGTACCCGAGGGGCTGGGGTCGGCGCTGGGCAGCCTGCGCGTCCTGGTCCTGCGCAGGAACCGCTTCGCCCGGCTGCCCCCGGCG
GTGGCCGAGCTCGGCCACCACCTCACCGAGCTGGACGTGAGCCACAACCGGCTGACCGCCCTGGGCGCGGAGGTGGTGAGTGCTCTGAGGGAGCTGCGGAAGCTC
AACCTCAGCCACAACCAGCTGCCCGCCCTGCCCGCCCAGCTGGGCGCTCTCGCTCACCTGGAGGAGCTGGATGTCAGCTTTAACCGGCTGGCGCACCTGCCTGAC
TCCCTCTCCTGCCTCTCCCGCCTGCGCACCCTGGACGTGGATCACAACCAGCTCACTGCCTTCCCCCGGCAGCTGCTGCAGCTGGTGGCCCTGGAGGAGCTGGAC
GTGTCCAGCAACCGGCTGCGGGGCCTGCCTGAGGATATCAGTGCCCTGCGTGCCCTCAAGATCCTCTGGCTGAGTGGGGCCGAGCTTGGCACGCTGCCCGCCGGC
TTCTGCGAGCTGGCCAGTTTGGAGAGCCTCATGCTAGACAACAACGGGCTGCAGGCTCTGCCCGCCCAGTTCAGCTGCCTGCAGCGGCTCAAAATGCTCAACCTC
TCCTCCAACCTCTTCGAGGAGTTCCCTGCCGCGCTGCTGCCCCTGGCTGGTCTGGAGGAGCTCTACCTTAGTCGCAACCAGCTCACCTCGGTGCCATCCCTTATC
TCGGGCCTGGGCCGGCTTCTCACCTTGTGGCTGGATAATAACCGCATCCGCTACCTGCCGGACTCCATCGTGGAGCTGACCGGCCTGGAGGAGCTCGTGCTGCAG
GGGAACCAGATCGCGGTGCTGCCCGACCACTTTGGCCAGCTCTCCCGGGTGGGTTTGTGGAAGATCAAAGACAACCCACTGATCCAGCCCCCCTACGAGGTCTGC
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>MFHAS1|9258|protein
MAGMDSGNLKTARLWRDAALRARKLRSNLRQLTLTAAGACPGAGADALESPASPQLVLPANLGDIEALNLGNNGLEEVPEGLGSALGSLRVLVLRRNRFARLPPA
VAELGHHLTELDVSHNRLTALGAEVVSALRELRKLNLSHNQLPALPAQLGALAHLEELDVSFNRLAHLPDSLSCLSRLRTLDVDHNQLTAFPRQLLQLVALEELD
VSSNRLRGLPEDISALRALKILWLSGAELGTLPAGFCELASLESLMLDNNGLQALPAQFSCLQRLKMLNLSSNLFEEFPAALLPLAGLEELYLSRNQLTSVPSLI
SGLGRLLTLWLDNNRIRYLPDSIVELTGLEELVLQGNQIAVLPDHFGQLSRVGLWKIKDNPLIQPPYEVCMKGIPYIAAYQKELAHSQPAVQPRLKLLLMGHKAA
GKTLLRHCLTEERVEGCPGGGDKEKCYPPSPPPVSKGIEVTSWTADASRGLRFIVYDLAGDESYEVIQPFFLSPGALYVLVVNLATYEPRHFPTTVGSFLHRVGA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Linkage Studies Top