AutismKB 2.0

Evidence Details for CMPK2


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Basic Information Top
Gene Symbol:CMPK2 ( TMPK2,TYKi,UMP-CMPK2 )
Gene Full Name: cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial
Band: 2p25.2
Quick LinksEntrez ID:129607; OMIM: 611787; Uniprot ID:CMPK2_HUMAN; ENSEMBL ID: ENSG00000134326; HGNC ID: 27015
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CMPK2|129607|nucleotide
ATGGCCTTCGCCCGCCGGCTCCTGCGCGGGCCACTGTCGGGGCCGCTGCTCGGGCGGCGCGGGGTCTGCGCTGGGGCCATGGCTCCGCCGCGCCGCTTCGTCCTG
GAGCTTCCCGACTGCACCCTGGCTCACTTCGCCCTAGGCGCCGACGCCCCCGGCGACGCAGACGCCCCCGACCCCCGCCTGGCGGCGCTGCTGGGGCCCCCGGAG
CGCAGCTACTCGCTGTGCGTGCCCGTGACCCCGGACGCCGGCTGCGGGGCCCGGGTCCGGGCGGCGCGGCTGCACCAGCGCCTGCTGCACCAGCTGCGCCGCGGC
CCCTTCCAGCGGTGCCAGCTGCTCAGGCTGCTCTGCTACTGCCCGGGCGGCCAGGCCGGCGGCGCACAGCAAGGCTTCCTGCTGCGCGACCCCCTGGATGACCCT
GACACCCGGCAAGCGCTGCTCGAGCTGCTGGGCGCCTGTCAGGAGGCACCACGCCCGCACTTGGGCGAGTTCGAGGCCGACCCGCGCGGCCAGCTGTGGCAGCGC
CTCTGGGAGGTGCAAGACGGCAGGCGGCTGCAGGTGGGCTGCGCACAGGTCGTGCCCGTCCCGGAGCCCCCGCTGCACCCGGTGGTGCCAGACTTGCCCAGTTCC
GTGGTCTTCCCGGACCGGGAAGCCGCCCGGGCCGTTTTGGAGGAGTGTACCTCCTTTATTCCTGAAGCCCGGGCAGTGCTTGACCTGGTCGACCAGTGCCCAAAA
CAGATCCAGAAAGGAAAGTTCCAGGTTGTTGCCATCGAAGGACTGGATGCCACGGGTAAAACCACGGTGACCCAGTCAGTGGCAGATTCACTTAAGGCTGTCCTC
TTAAAGTCACCACCCTCTTGCATTGGCCAGTGGAGGAAGATCTTTGATGATGAACCAACTATCATTAGAAGAGCTTTTTACTCTTTGGGCAATTATATTGTGGCC
TCCGAAATAGCTAAAGAATCTGCCAAATCTCCTGTGATTGTAGACAGGTACTGGCACAGCACGGCCACCTATGCCATAGCCACTGAGGTGAGTGGGGGTCTCCAG
CACCTGCCCCCAGCCCATCACCCTGTGTACCAGTGGCCAGAGGACCTGCTCAAACCTGACCTTATCCTGCTGCTCACTGTGAGTCCTGAGGAGAGGTTGCAGAGG
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>CMPK2|129607|protein
MAFARRLLRGPLSGPLLGRRGVCAGAMAPPRRFVLELPDCTLAHFALGADAPGDADAPDPRLAALLGPPERSYSLCVPVTPDAGCGARVRAARLHQRLLHQLRRG
PFQRCQLLRLLCYCPGGQAGGAQQGFLLRDPLDDPDTRQALLELLGACQEAPRPHLGEFEADPRGQLWQRLWEVQDGRRLQVGCAQVVPVPEPPLHPVVPDLPSS
VVFPDREAARAVLEECTSFIPEARAVLDLVDQCPKQIQKGKFQVVAIEGLDATGKTTVTQSVADSLKAVLLKSPPSCIGQWRKIFDDEPTIIRRAFYSLGNYIVA
SEIAKESAKSPVIVDRYWHSTATYAIATEVSGGLQHLPPAHHPVYQWPEDLLKPDLILLLTVSPEERLQRLQGRGMEKTREEAELEANSVFRQKVEMSYQRMENP
GCHVVDASPSREKVLQTVLSLIQNSFSEP
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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 (1) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top