AutismKB 2.0

Evidence Details for CPA3


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Basic Information Top
Gene Symbol:CPA3 ( MC-CPA )
Gene Full Name: carboxypeptidase A3 (mast cell)
Band: 3q24
Quick LinksEntrez ID:1359; OMIM: 114851; Uniprot ID:CBPA3_HUMAN; ENSEMBL ID: ENSG00000163751; HGNC ID: 2298
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPA3|1359|nucleotide
ATGAGGCTCATCCTGCCTGTGGGTTTGATTGCTACCACTCTTGCAATTGCTCCTGTCCGCTTTGACAGGGAGAAGGTGTTCCGCGTGAAGCCCCAGGATGAAAAA
CAAGCAGACATCATAAAGGACTTGGCCAAAACCAATGAGCTTGACTTCTGGTATCCAGGTGCCACCCACCACGTAGCTGCTAATATGATGGTGGATTTCCGAGTT
AGTGAGAAGGAATCCCAAGCCATCCAGTCTGCCTTGGATCAAAATAAAATGCACTATGAAATCTTGATTCATGATCTACAAGAAGAGATTGAGAAACAGTTTGAT
GTTAAAGAAGATATCCCAGGCAGGCACAGCTACGCAAAATACAATAATTGGGAAAAGATTGTGGCTTGGACTGAAAAGATGATGGATAAGTATCCTGAAATGGTC
TCTCGTATTAAAATTGGATCTACTGTTGAAGATAATCCACTATATGTTCTGAAGATTGGGGAAAAGAATGAAAGAAGAAAGGCTATTTTTACGGATTGTGGCATT
CACGCACGAGAATGGGTCTCCCCAGCATTCTGCCAGTGGTTTGTCTATCAGGCAACCAAAACTTATGGGAGAAACAAAATTATGACCAAACTCTTGGACCGAATG
AATTTTTACATTCTTCCTGTGTTCAATGTTGATGGATATATTTGGTCATGGACAAAGAACCGCATGTGGAGAAAAAATCGTTCCAAGAACCAAAACTCCAAATGC
ATCGGCACTGACCTCAACAGGAATTTTAATGCTTCATGGAACTCCATTCCTAACACCAATGACCCATGTGCAGATAACTATCGGGGCTCTGCACCAGAGTCCGAG
AAAGAGACGAAAGCTGTCACTAATTTCATTAGAAGCCACCTGAATGAAATCAAGGTTTACATCACCTTCCATTCCTACTCCCAGATGCTATTGTTTCCCTATGGA
TATACATCAAAACTGCCACCTAACCATGAGGACTTGGCCAAAGTTGCAAAGATTGGCACTGATGTTCTATCAACTCGATATGAAACCCGCTACATCTATGGCCCA
ATAGAATCAACAATTTACCCGATATCAGGTTCTTCTTTAGACTGGGCTTATGACCTGGGCATCAAACACACATTTGCCTTTGAGCTCCGAGATAAAGGCAAATTT
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>CPA3|1359|protein
MRLILPVGLIATTLAIAPVRFDREKVFRVKPQDEKQADIIKDLAKTNELDFWYPGATHHVAANMMVDFRVSEKESQAIQSALDQNKMHYEILIHDLQEEIEKQFD
VKEDIPGRHSYAKYNNWEKIVAWTEKMMDKYPEMVSRIKIGSTVEDNPLYVLKIGEKNERRKAIFTDCGIHAREWVSPAFCQWFVYQATKTYGRNKIMTKLLDRM
NFYILPVFNVDGYIWSWTKNRMWRKNRSKNQNSKCIGTDLNRNFNASWNSIPNTNDPCADNYRGSAPESEKETKAVTNFIRSHLNEIKVYITFHSYSQMLLFPYG
YTSKLPPNHEDLAKVAKIGTDVLSTRYETRYIYGPIESTIYPISGSSLDWAYDLGIKHTFAFELRDKGKFGFLLPESRIKPTCRETMLAVKFIAKYILKHTS

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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) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top