AutismKB 2.0

Evidence Details for MCF2L2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MCF2L2 ( ARHGEF22,DKFZp686K0690,FLJ42509,KIAA0861 )
Gene Full Name: MCF.2 cell line derived transforming sequence-like 2
Band: 3q27.1
Quick LinksEntrez ID:23101; OMIM: NA; Uniprot ID:MF2L2_HUMAN; ENSEMBL ID: ENSG00000053524; HGNC ID: 30319
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCF2L2|23101|nucleotide
ATGCTGTCTTGCTTAAAAGAAGAGATGCCTCCCCAGGAGCTCACCCGGCGACTGGCCACAGTGATCACTCATGTCGATGAAATTATGCAGCAGGAAGTCAGACCC
CTGATGGCGGTGGAGATAATAGAACAACTTCACAGACAATTTGCCATTCTTTCAGGAGGCCGAGGGGAGGATGGCGCCCCCATCATCACGTTCCCAGAGTTTTCG
GGGTTCAAACACATCCCAGATGAAGACTTCCTGAATGTCATGACCTACCTGACTAGCATCCCCAGTGTGGAGGCTGCCAGCATTGGATTCATTGTTGTTATCGAC
AGACGAAGAGACAAGTGGAGCTCCGTAAAGGCATCCTTGACACGAATAGCTGTGGCATTTCCAGGAAACTTACAGCTCATATTCATCCTTCGTCCATCTCGCTTT
ATCCAGAGGACATTCACTGACATTGGCATTAAATACTATCGAAATGAGTTTAAAACGAAAGTGCCGATCATCATGGTAAACTCTGTCTCTGACCTTCACGGCTAC
ATCGACAAAAGCCAACTGACCCGGGAATTAGGGGGGACTTTGGAATATCGCCACGGTCAGTGGGTAAATCACCGCACTGCCATCGAAAACTTTGCCTTGACCTTG
AAGACCACTGCCCAGATGCTGCAGACGTTTGGGTCCTGCCTGGCCACAGCAGAGCTGCCCAGAAGCATGCTATCCACGGAAGACCTTCTCATGTCCCACACAAGG
CAGCGGGACAAGCTGCAGGATGAGCTGAAATTACTTGGAAAGCAGGGGACCACATTGCTGTCATGCATCCAAGAACCAGCAACCAAATGTCCCAACAGCAAACTC
AATCTCAACCAACTTGAGAATGTAACTACCATGGAAAGGTTATTAGTTCAACTGGATGAAACAGAAAAAGCCTTTAGTCACTTTTGGTCTGAGCATCATCTGAAG
CTTAACCAGTGCCTACAACTACAGCATTTTGAGCACGATTTTTGTAAGGCTAAGCTTGCCCTGGATAATTTGCTGGAAGAGCAAGCAGAGTTTACAGGCATTGGA
GACAGCGTGATGCACGTGGAGCAGATTCTTAAGGAACACAAAAAACTGGAGGAAAAAAGCCAGGAGCCCCTGGAAAAGGCCCAGCTGCTGGCACTGGTTGGGGAC
Show »

>MCF2L2|23101|protein
MLSCLKEEMPPQELTRRLATVITHVDEIMQQEVRPLMAVEIIEQLHRQFAILSGGRGEDGAPIITFPEFSGFKHIPDEDFLNVMTYLTSIPSVEAASIGFIVVID
RRRDKWSSVKASLTRIAVAFPGNLQLIFILRPSRFIQRTFTDIGIKYYRNEFKTKVPIIMVNSVSDLHGYIDKSQLTRELGGTLEYRHGQWVNHRTAIENFALTL
KTTAQMLQTFGSCLATAELPRSMLSTEDLLMSHTRQRDKLQDELKLLGKQGTTLLSCIQEPATKCPNSKLNLNQLENVTTMERLLVQLDETEKAFSHFWSEHHLK
LNQCLQLQHFEHDFCKAKLALDNLLEEQAEFTGIGDSVMHVEQILKEHKKLEEKSQEPLEKAQLLALVGDQLIQSHHYAADAIRPRCVELRHLCDDFINGNKKKW
DILGKSLEFHRQLDKVSQWCEAGIYLLASQAVDKCQSREGVDIALNDIATFLGTVKEYPLLSPKEFYNEFELLLTLDAKAKAQKVLQRLDDVQEIFHKRQVSLMK
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top