AutismKB 2.0

Evidence Details for SLC4A5


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Basic Information Top
Gene Symbol:SLC4A5 ( MGC129662,NBC4 )
Gene Full Name: solute carrier family 4, sodium bicarbonate cotransporter, member 5
Band: 2p13.1
Quick LinksEntrez ID:57835; OMIM: 606757; Uniprot ID:S4A5_HUMAN; ENSEMBL ID: ENSG00000188687; HGNC ID: 18168
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC4A5|57835|nucleotide
ATGAAGGTGAAGGAGGAGAAGGCTGGGGTAGGAAAGCTGGACCACACTAACCACAGGAGGAGATTTCCGGATCAGAAAGAATGCCCTCCTATCCACATTGGGCTT
CCAGTACCCACTTACCCTCAAAGAAAAACTGACCAGAAGGGACATCTTTCAGGCCTGCAAAAAGTCCACTGGGGCCTGCGGCCAGACCAGCCACAGCAGGAACTG
ACTGGCCCAGGGAGTGGGGCAAGCAGCCAGGACAGCAGCATGGATCTTATCAGCAGGACTCGGTCCCCAGCTGCTGAGCAGCTCCAGGACATCCTGGGGGAGGAA
GATGAGGCTCCCAACCCCACCCTCTTTACAGAGATGGATACTCTGCAGCATGACGGAGACCAGATGGAGTGGAAGGAGTCAGCCAGGTGGATAAAGTTTGAAGAA
AAGGTAGAGGAAGGCGGCGAACGCTGGAGCAAGCCCCACGTGTCCACACTATCCCTGCACAGCCTCTTCGAGCTCCGTACCTGCCTGCAGACGGGGACGGTGCTG
CTGGATTTGGACAGTGGCTCCTTACCACAGATCATAGATGATGTCATTGAGAAGCAGATTGAGGATGGTCTCCTGCGGCCAGAGCTCCGGGAGAGGGTCAGTTAC
GTCCTCCTGAGGAGGCACCGCCACCAAACCAAGAAGCCCATCCACCGCTCCTTAGCTGACATTGGGAAGTCAGTCTCCACCACAAATCGCAGTCCTGCCCGGAGC
CCTGGTGCTGGCCCGAGTCTACACCACTCCACGGAAGACCTGCGGATGCGGCAGAGTGCAAATTACGGACGTCTGTGTCATGCCCAGAGCAGAAGCATGAATGAC
ATTTCTCTCACCCCAAACACAGACCAGCGGAAAAACAAATTCATGAAGAAGATCCCCAAGGACTCAGAAGCGTCCAACGTGCTCGTGGGCGAGGTGGACTTCCTA
GACCAGCCATTCATCGCGTTCGTGCGCCTCATCCAGTCGGCCATGCTGGGAGGAGTGACCGAGGTGCCTGTCCCCACCAGATTTCTGTTTATACTACTGGGACCT
TCTGGGAGAGCAAAATCCTACAATGAAATTGGCCGTGCCATTGCAACCCTCATGGTAGATGATCTCTTCAGTGACGTGGCCTACAAAGCCCGCAATCGGGAAGAT
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>SLC4A5|57835|protein
MKVKEEKAGVGKLDHTNHRRRFPDQKECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWGLRPDQPQQELTGPGSGASSQDSSMDLISRTRSPAAEQLQDILGEE
DEAPNPTLFTEMDTLQHDGDQMEWKESARWIKFEEKVEEGGERWSKPHVSTLSLHSLFELRTCLQTGTVLLDLDSGSLPQIIDDVIEKQIEDGLLRPELRERVSY
VLLRRHRHQTKKPIHRSLADIGKSVSTTNRSPARSPGAGPSLHHSTEDLRMRQSANYGRLCHAQSRSMNDISLTPNTDQRKNKFMKKIPKDSEASNVLVGEVDFL
DQPFIAFVRLIQSAMLGGVTEVPVPTRFLFILLGPSGRAKSYNEIGRAIATLMVDDLFSDVAYKARNREDLIAGIDEFLDEVIVLPPGEWDPNIRIEPPKKVPSA
DKRKSVFSLAELGQMNGSVGGGGGAPGGGNGGGGGGGSGGGAGSGGAGGTSSGDDGEMPAMHEIGEELIWTGRFFGGLCLDIKRKLPWFPSDFYDGFHIQSISAI
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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 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top