AutismKB 2.0

Evidence Details for PAM


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Basic Information Top
Gene Symbol:PAM ( PAL,PHM )
Gene Full Name: peptidylglycine alpha-amidating monooxygenase
Band: 5q21.1
Quick LinksEntrez ID:5066; OMIM: 170270; Uniprot ID:AMD_HUMAN; ENSEMBL ID: ENSG00000145730; HGNC ID: 8596
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAM|5066|nucleotide
ATGGCTGGCCGCGTCCCTAGCCTGCTAGTTCTCCTTGTTTTTCCAAGCAGCTGTTTGGCTTTCCGAAGCCCACTTTCTGTCTTTAAGAGGTTTAAAGAAACTACC
AGACCATTTTCCAATGAATGTCTTGGTACCACCAGACCCGTAGTTCCTATTGATTCATCAGATTTTGCATTGGATATTCGCATGCCTGGGGTTACACCTAAACAG
TCCGATACATACTTCTGCATGTCTATGCGAATACCAGTGGATGAGGAAGCCTTCGTGATTGACTTCAAGCCTCGAGCCAGCATGGATACTGTCCATCACATGTTA
CTTTTTGGATGCAATATGCCTTCATCCACTGGAAGTTACTGGTTTTGTGATGAAGGAACCTGTACAGATAAAGCCAATATTCTGTATGCCTGGGCGAGAAATGCT
CCCCCTACCCGGCTCCCCAAAGGTGTTGGATTCAGAGTTGGAGGAGAGACTGGAAGTAAATACTTTGTACTACAGGTACACTATGGGGATATTAGTGCTTTTAGA
GATAATAACAAGGACTGTTCTGGTGTGTCCTTACACCTCACACGTCTGCCACAGCCTTTAATTGCTGGCATGTACCTTATGATGTCTGTTGACACTGTTATCCCA
GCAGGAGAAAAAGTGGTGAATTCTGACATTTCATGCCATTATAAAAATTATCCAATGCATGTCTTTGCCTATAGAGTTCACACTCACCATTTAGGTAAGGTAGTA
AGTGGATACAGAGTAAGAAATGGACAGTGGACACTGATTGGACGGCAGAGCCCTCAGCTGCCACAGGCTTTCTACCCTGTGGGGCATCCAGTTGATGTAAGTTTT
GGTGACCTACTGGCTGCAAGATGTGTATTCACTGGTGAAGGAAGGACAGAAGCCACACACATTGGTGGCACGTCTAGTGATGAAATGTGCAACTTATACATTATG
TATTACATGGAAGCCAAGCATGCAGTTTCTTTCATGACCTGTACCCAGAATGTAGCTCCAGATATGTTCAGAACCATACCACCAGAGGCCAACATTCCAATTCCC
GTGAAGTCTGATATGGTTATGATGCATGAACATCATAAAGAAACAGAATATAAAGATAAGATTCCTTTACTACAGCAGCCAAAACGAGAAGAAGAAGAAGTGTTA
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>PAM|5066|protein
MAGRVPSLLVLLVFPSSCLAFRSPLSVFKRFKETTRPFSNECLGTTRPVVPIDSSDFALDIRMPGVTPKQSDTYFCMSMRIPVDEEAFVIDFKPRASMDTVHHML
LFGCNMPSSTGSYWFCDEGTCTDKANILYAWARNAPPTRLPKGVGFRVGGETGSKYFVLQVHYGDISAFRDNNKDCSGVSLHLTRLPQPLIAGMYLMMSVDTVIP
AGEKVVNSDISCHYKNYPMHVFAYRVHTHHLGKVVSGYRVRNGQWTLIGRQSPQLPQAFYPVGHPVDVSFGDLLAARCVFTGEGRTEATHIGGTSSDEMCNLYIM
YYMEAKHAVSFMTCTQNVAPDMFRTIPPEANIPIPVKSDMVMMHEHHKETEYKDKIPLLQQPKREEEEVLDQGDFYSLLSKLLGEREDVVHVHKYNPTEKAESES
DLVAEIANVVQKKDLGRSDAREGAEHERGNAILVRDRIHKFHRLVSTLRPPESRVFSLQQPPPGEGTWEPEHTGDFHMEEALDWPGVYLLPGQVSGVALDPKNNL
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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) 0 (0) 0 (0) 3 (3) 0 (0) 1 (1) 0 (0) 0 (0) 4 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top