AutismKB 2.0

Annotation Detail for SLC20A1


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Basic Information Top
Gene Symbol:SLC20A1 ( DKFZp686J2397,FLJ41426,GLVR1,Glvr-1,PIT1,PiT-1 )
Gene Full Name: solute carrier family 20 (phosphate transporter), member 1
Band: 2q14.1
Quick LinksEntrez ID:6574; OMIM: 137570; Uniprot ID:S20A1_HUMAN; ENSEMBL ID: ENSG00000144136; HGNC ID: 10946
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
265Phosphoserine.
267Phosphoserine.
269Phosphoserine.
Location(AA) Modifications Resource
265Phosphoserine (By similarity).Swiss-Prot 53.0
269Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7O-linkedHMM predict
8O-linkedHMM predict
9O-linkedHMM predict
12O-linkedHMM predict
15O-linkedHMM predict
96N-linkedHMM predict
277Phosphoserine(PKA)HMM predict
277Phosphoserine(PKG)HMM predict
343Phosphoserine(CK1)HMM predict
343Phosphoserine(IKK)HMM predict
363Phosphoserine(ATM)HMM predict
371N-linkedHMM predict
415N-linkedHMM predict
416N-linkedHMM predict
417Phosphoserine(PKG)HMM predict
476Phosphoserine(CK1)HMM predict
478Phosphoserine(CAMK2)HMM predict
497N-linkedHMM predict
527Phosphoserine(CDK)HMM predict
674Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005415
  • Location:chr2 113119997-113137868
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 113100593 113100965 372 19219
CTCF CD4SISSRdata 113100593 113100965 372 19219
CTCF HelaGSE12889 113100539 113100888 349 19284
CTCF JurkatGSE12889 113100478 113100920 442 19299
CTCF G2GSE9613 113099835 113100215 380 19973
CTCF G2GSE9613 113100558 113101136 578 19151
CTCF G2GSE9613 113105008 113105353 345 14817
CTCF G2GSE9613 113108273 113108621 348 11551
CTCF G2GSE9613 113115462 113115739 277 4397
CTCF G2GSE9613 113119240 113120468 1228 144
Fos K562GSE19551 113114744 113115367 623 4942
H3ac HepG2E 113118441 113119456 1015 1049
HIF1 HypoHepG2 113119240 113119633 393 561
Oct1 H2O2-HelaGSE14283 113108854 113108881 27 11130
PHF8 HeLaGSE20725 113118790 113120656 1866 275
TAF HelaGSE8489 113118694 113119240 546 1031
TFAP2C MCF7GSE21234 113119084 113119813 729 549
USF1 HepG2E 113117686 113119536 1850 1387
USF2 HepG2E 113116670 113119536 2866 1895
hScc1 BcellGSE12603 113100558 113101211 653 19113
hScc1 BcellGSE12603 113119346 113120407 1061 121
hScc1 CdLSGSE12603 113100558 113101100 542 19169
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARA MCF7GSE15244 113154822 113155253 431 17169
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 113120727 113121719 992 0
H3K4me3 colorectalcancer 113122481 113122919 438 0
H3ac HepG2E 113120905 113122006 1101 0
PolII HeLaGSE12783 113118330 113130431 12101 0
TAF HelaGSE8489 113120800 113122198 1398 0
TAF k562GSE8489 113120833 113122198 1365 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-138 hsa-mir-138-2 16 21079996
hsa-miR-138 hsa-mir-138-1 3 21079996
hsa-miR-138-1* hsa-mir-138-1 3 21079996
hsa-miR-138-2* hsa-mir-138-2 16 21079996
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