AutismKB 2.0

Evidence Details for SLC4A4


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Basic Information Top
Gene Symbol:SLC4A4 ( DKFZp781H1314,HNBC1,KNBC,NBC1,NBC2,SLC4A5,hhNMC,pNBC )
Gene Full Name: solute carrier family 4, sodium bicarbonate cotransporter, member 4
Band: 4q13.3
Quick LinksEntrez ID:8671; OMIM: 603345; Uniprot ID:S4A4_HUMAN; ENSEMBL ID: ENSG00000080493; HGNC ID: 11030
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC4A4|8671|nucleotide
ATGGAGGATGAAGCTGTCCTGGACAGAGGGGCTTCCTTCCTCAAGCATGTGTGTGATGAAGAAGAAGTAGAAGGCCACCATACCATTTACATCGGAGTCCATGTG
CCGAAGAGTTACAGGAGAAGGAGACGTCACAAGAGAAAGACAGGGCACAAAGAAAAGAAGGAAAAGGAGAGAATCTCTGAGAACTACTCTGACAAATCAGATATT
GAAAATGCTGATGAATCCAGCAGCAGCATCCTAAAACCTCTCATCTCTCCTGCTGCAGAACGCATCCGATTCATCTTGGGAGAGGAGGATGACAGCCCAGCTCCC
CCTCAGCTCTTCACGGAACTGGATGAGCTGCTGGCCGTGGATGGGCAGGAGATGGAGTGGAAGGAAACAGCCAGGTGGATCAAGTTTGAAGAAAAAGTGGAACAG
GGTGGGGAAAGATGGAGCAAGCCCCATGTGGCCACATTGTCCCTTCATAGTTTATTTGAGCTGAGGACATGTATGGAGAAAGGATCCATCATGCTTGATCGGGAG
GCTTCTTCTCTCCCACAGTTGGTGGAGATGATTGTTGACCATCAGATTGAGACAGGCCTATTGAAACCTGAACTTAAGGATAAGGTGACCTATACTTTGCTCCGG
AAGCACCGGCATCAAACCAAGAAATCCAACCTTCGGTCCCTGGCTGACATTGGGAAGACAGTCTCCAGTGCAAGTAGGATGTTTACCAACCCTGATAATGGTAGC
CCAGCCATGACCCATAGGAATCTGACTTCCTCCAGTCTGAATGACATTTCTGATAAACCGGAGAAGGACCAGCTGAAGAATAAGTTCATGAAAAAATTGCCACGT
GATGCAGAAGCTTCCAACGTGCTTGTTGGGGAGGTTGACTTTTTGGATACTCCTTTCATTGCCTTTGTTAGGCTACAGCAGGCTGTCATGCTGGGTGCCCTGACT
GAAGTTCCTGTGCCCACAAGGTTCTTGTTCATTCTCTTAGGTCCTAAGGGGAAAGCCAAGTCCTACCACGAGATTGGCAGAGCCATTGCCACCCTGATGTCTGAT
GAGGTGTTCCATGACATTGCTTATAAAGCAAAAGACAGGCACGACCTGATTGCTGGTATTGATGAGTTCCTAGATGAAGTCATCGTCCTTCCACCTGGGGAATGG
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>SLC4A4|8671|protein
MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERISENYSDKSDIENADESSSSILKPLISPAAERIRFILGEEDDSPAP
PQLFTELDELLAVDGQEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLPQLVEMIVDHQIETGLLKPELKDKVTYTLLR
KHRHQTKKSNLRSLADIGKTVSSASRMFTNPDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFIAFVRLQQAVMLGALT
EVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTP
HDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLATVTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTI
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top