AutismKB 2.0

Annotation Detail for SLC9A3R1


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Basic Information Top
Gene Symbol:SLC9A3R1 ( EBP50,NHERF,NHERF1,NPHLOP2 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Band: 17q25.1
Quick LinksEntrez ID:9368; OMIM: 604990; Uniprot ID:NHRF1_HUMAN; ENSEMBL ID: ENSG00000109062; HGNC ID: 11075
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
46Phosphoserine.
280Phosphoserine.
288Phosphoserine (By similarity).
290Phosphoserine.
291Phosphoserine.
293Phosphothreonine.
294Phosphoserine (By similarity).
302Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004252
  • Location:chr17 70256378-70277088
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 70256069 70256508 439 90
VDR GM10855-UnstimGSE22484 70255704 70256893 1189 80
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70267228 70267658 430 0
CTCF CD4SISSRdata 70267228 70267658 430 0
CTCF G2GSE9613 70256039 70256967 928 0
CTCF G2GSE9613 70267078 70267436 358 0
ER Breast-CancerGSE22609 70268277 70269017 740 0
ER MCF7GSE19013 70265821 70266498 677 0
ER MCF7GSE19013 70268186 70269010 824 0
H3ac HepG2E 70257550 70259257 1707 0
H3ac HepG2E 70261228 70261511 283 0
NFkBII GM10847GSE19485 70255756 70257117 1361 0
NFkBII GM12892GSE19485 70255672 70257460 1788 0
NFkBII GM15510GSE19485 70255744 70257062 1318 0
RARA MCF7GSE15244 70258817 70259186 369 0
RARA MCF7GSE15244 70265319 70267112 1793 0
RARA MCF7GSE15244 70267679 70268905 1226 0
RARG MCF7GSE15244 70265921 70266444 523 0
RARG MCF7GSE15244 70267812 70268797 985 0
TFAP2C MCF7GSE21234 70264698 70267076 2378 0
TFAP2C MCF7GSE21234 70267263 70269116 1853 0
hScc1 BcellGSE12603 70256860 70257326 466 0
hScc1 BcellGSE12603 70266041 70266571 530 0
hScc1 BcellGSE12603 70266968 70267396 428 0
hScc1 BcellGSE12603 70268229 70268441 212 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-125a-3p hsa-mir-125a 19 20937217
hsa-miR-125a-5p hsa-mir-125a 19 20937217
hsa-miR-150 hsa-mir-150 19 20937217
hsa-miR-150* hsa-mir-150 19 20937217
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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