AutismKB 2.0

Evidence Details for AQP4


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Basic Information Top
Gene Symbol:AQP4 ( HMIWC2,MGC22454,MIWC )
Gene Full Name: aquaporin 4
Band: 18q11.2
Quick LinksEntrez ID:361; OMIM: 600308; Uniprot ID:AQP4_HUMAN; ENSEMBL ID: ENSG00000171885; HGNC ID: 637
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AQP4|361|nucleotide
ATGAGTGACAGACCCACAGCAAGGCGGTGGGGTAAGTGTGGACCTTTGTGTACCAGAGAGAACATCATGGTGGCTTTCAAAGGGGTCTGGACTCAAGCTTTCTGG
AAAGCAGTCACAGCGGAATTTCTGGCCATGCTTATTTTTGTTCTCCTCAGCCTGGGATCCACCATCAACTGGGGTGGAACAGAAAAGCCTTTACCGGTCGACATG
GTTCTCATCTCCCTTTGCTTTGGACTCAGCATTGCAACCATGGTGCAGTGCTTTGGCCATATCAGCGGTGGCCACATCAACCCTGCAGTGACTGTGGCCATGGTG
TGCACCAGGAAGATCAGCATCGCCAAGTCTGTCTTCTACATCGCAGCCCAGTGCCTGGGGGCCATCATTGGAGCAGGAATCCTCTATCTGGTCACACCTCCCAGT
GTGGTGGGAGGCCTGGGAGTCACCATGGTTCATGGAAATCTTACCGCTGGTCATGGTCTCCTGGTTGAGTTGATAATCACATTTCAATTGGTGTTTACTATCTTT
GCCAGCTGTGATTCCAAACGGACTGATGTCACTGGCTCAATAGCTTTAGCAATTGGATTTTCTGTTGCAATTGGACATTTATTTGCAATCAATTATACTGGTGCC
AGCATGAATCCCGCCCGATCCTTTGGACCTGCAGTTATCATGGGAAATTGGGAAAACCATTGGATATATTGGGTTGGGCCCATCATAGGAGCTGTCCTCGCTGGT
GGCCTTTATGAGTATGTCTTCTGTCCAGATGTTGAATTCAAACGTCGTTTTAAAGAAGCCTTCAGCAAAGCTGCCCAGCAAACAAAAGGAAGCTACATGGAGGTG
GAGGACAACAGGAGTCAGGTAGAGACGGATGACCTGATTCTAAAACCTGGAGTGGTGCATGTGATTGACGTTGACCGGGGAGAGGAGAAGAAGGGGAAAGACCAA
TCTGGAGAGGTATTGTCTTCAGTATGA

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>AQP4|361|protein
MSDRPTARRWGKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQCFGHISGGHINPAVTVAMV
CTRKISIAKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFASCDSKRTDVTGSIALAIGFSVAIGHLFAINYTGA
SMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFSKAAQQTKGSYMEVEDNRSQVETDDLILKPGVVHVIDVDRGEEKKGKDQ
SGEVLSSV

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