AutismKB 2.0

Evidence Details for TGM2


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Basic Information Top
Gene Symbol:TGM2 ( G-ALPHA-h,GNAH,TG2,TGC )
Gene Full Name: transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)
Band: 20q11.23
Quick LinksEntrez ID:7052; OMIM: 190196; Uniprot ID:TGM2_HUMAN; ENSEMBL ID: ENSG00000198959; HGNC ID: 11778
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TGM2|7052|nucleotide
ATGGCCGAGGAGCTGGTCTTAGAGAGGTGTGATCTGGAGCTGGAGACCAATGGCCGAGACCACCACACGGCCGACCTGTGCCGGGAGAAGCTGGTGGTGCGACGG
GGCCAGCCCTTCTGGCTGACCCTGCACTTTGAGGGCCGCAACTACGAGGCCAGTGTAGACAGTCTCACCTTCAGTGTCGTGACCGGCCCAGCCCCTAGCCAGGAG
GCCGGGACCAAGGCCCGTTTTCCACTAAGAGATGCTGTGGAGGAGGGTGACTGGACAGCCACCGTGGTGGACCAGCAAGACTGCACCCTCTCGCTGCAGCTCACC
ACCCCGGCCAACGCCCCCATCGGCCTGTATCGCCTCAGCCTGGAGGCCTCCACTGGCTACCAGGGATCCAGCTTTGTGCTGGGCCACTTCATTTTGCTCTTCAAC
GCCTGGTGCCCAGCGGATGCTGTGTACCTGGACTCGGAAGAGGAGCGGCAGGAGTATGTCCTCACCCAGCAGGGCTTTATCTACCAGGGCTCGGCCAAGTTCATC
AAGAACATACCTTGGAATTTTGGGCAGTTTGAAGATGGGATCCTAGACATCTGCCTGATCCTTCTAGATGTCAACCCCAAGTTCCTGAAGAACGCCGGCCGTGAC
TGCTCCCGCCGCAGCAGCCCCGTCTACGTGGGCCGGGTGGTGAGTGGCATGGTCAACTGCAACGATGACCAGGGTGTGCTGCTGGGACGCTGGGACAACAACTAC
GGGGACGGCGTCAGCCCCATGTCCTGGATCGGCAGCGTGGACATCCTGCGGCGCTGGAAGAACCACGGCTGCCAGCGCGTCAAGTATGGCCAGTGCTGGGTCTTC
GCCGCCGTGGCCTGCACAGTGCTGAGGTGCCTGGGCATCCCTACCCGCGTCGTGACCAACTACAACTCGGCCCATGACCAGAACAGCAACCTTCTCATCGAGTAC
TTCCGCAATGAGTTTGGGGAGATCCAGGGTGACAAGAGCGAGATGATCTGGAACTTCCACTGCTGGGTGGAGTCGTGGATGACCAGGCCGGACCTGCAGCCGGGG
TACGAGGGCTGGCAGGCCCTGGACCCAACGCCCCAGGAGAAGAGCGAAGGGACGTACTGCTGTGGCCCAGTTCCAGTTCGTGCCATCAAGGAGGGCGACCTGAGC
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>TGM2|7052|protein
MAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLHFEGRNYEASVDSLTFSVVTGPAPSQEAGTKARFPLRDAVEEGDWTATVVDQQDCTLSLQLT
TPANAPIGLYRLSLEASTGYQGSSFVLGHFILLFNAWCPADAVYLDSEEERQEYVLTQQGFIYQGSAKFIKNIPWNFGQFEDGILDICLILLDVNPKFLKNAGRD
CSRRSSPVYVGRVVSGMVNCNDDQGVLLGRWDNNYGDGVSPMSWIGSVDILRRWKNHGCQRVKYGQCWVFAAVACTVLRCLGIPTRVVTNYNSAHDQNSNLLIEY
FRNEFGEIQGDKSEMIWNFHCWVESWMTRPDLQPGYEGWQALDPTPQEKSEGTYCCGPVPVRAIKEGDLSTKYDAPFVFAEVNADVVDWIQQDDGSVHKSINRSL
IVGLKISTKSVGRDEREDITHTYKYPEGSSEEREAFTRANHLNKLAEKEETGMAMRIRVGQSMNMGSDFDVFAHITNNTAEEYVCRLLLCARTVSYNGILGPECG
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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) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top