AutismKB 2.0

Annotation Detail for FXR1


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Basic Information Top
Gene Symbol:FXR1 ( FXR1P )
Gene Full Name: fragile X mental retardation, autosomal homolog 1
Band: 3q26.33
Quick LinksEntrez ID:8087; OMIM: 600819; Uniprot ID:FXR1_HUMAN; ENSEMBL ID: ENSG00000114416; HGNC ID: 4023
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
68Phosphotyrosine (By similarity).
406Phosphoserine.
409Phosphoserine.
445Omega-N-methylated arginine.
477Phosphotyrosine.
524Phosphoserine.
528Phosphoserine.
585Phosphoserine (By similarity).
587Phosphoserine.
Location(AA) Modifications Resource
406Phosphoserine (By similarity).Swiss-Prot 53.0
406PhosphoserinePhospho.ELM 6.0
409Phosphoserine.Swiss-Prot 53.0
409PhosphoserinePhospho.ELM 6.0
445Omega-N-methylated arginine.Swiss-Prot 53.0
477Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
60Phosphoserine(CK2)HMM predict
118N-linkedHMM predict
124N-linkedHMM predict
177Phosphothreonine(PKC)HMM predict
265SulfotyrosineHMM predict
357Phosphotyrosine(Jak)HMM predict
388MethylarginineHMM predict
394N-linkedHMM predict
395Phosphotyrosine(INSR)HMM predict
399Phosphotyrosine(INSR)HMM predict
407N-linkedHMM predict
409Phosphoserine(CK1)HMM predict
438Phosphoserine(PKC)HMM predict
445MethylarginineHMM predict
453MethylarginineHMM predict
455MethylarginineHMM predict
459MethylarginineHMM predict
485Phosphoserine(CK2)HMM predict
511Phosphothreonine(PKA)HMM predict
528Phosphoserine(IKK)HMM predict
536Phosphothreonine(PKC)HMM predict
546Phosphoserine(CK1)HMM predict
546Phosphoserine(PKG)HMM predict
546Phosphoserine(IKK)HMM predict
597Phosphothreonine(MAPK)HMM predict
605Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001013438
  • Location:chr3 182113145-182177641
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 182112714 182113017 303 280
CTCF CD4SISSRdata 182112714 182113017 303 280
CTCF G2GSE9613 182112663 182113223 560 203
ER MCF7GSE19013 182112557 182113240 683 247
FOXA1 MCF7GSE15244 182112663 182113343 680 143
hScc1 BcellGSE12603 182112766 182113343 577 91
p130 shRbSenescentGSE19898 182112568 182113586 1018 69
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 182122924 182123721 797 0
H3K4me3 colorectalcancer 182113708 182114801 1093 0
H3ac HepG2E 182112342 182115265 2923 0
P300 T0-glioblastomaGSE21026 182112687 182113611 924 0
P300 T30-glioblastomaGSE21026 182112566 182113859 1293 0
PHF8 293TGSE20725 182112669 182113694 1025 0
PHF8 HeLaGSE20725 182112506 182113804 1298 0
Rb SenescentGSE19898 182112746 182113544 798 0
TAF k562GSE8489 182113810 182114946 1136 0
USF1 HepG2E 182114121 182114767 646 0
hScc1 CdLSGSE12603 182112663 182113734 1071 0
p130 QuiescentGSE19898 182113156 182113394 238 0
p130 SenescentGSE19898 182113011 182113788 777 0
p130 shRbQuiescentGSE19898 182113098 182113732 634 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 18048652
hsa-let-7a hsa-let-7a-2 11 18048652
hsa-let-7a hsa-let-7a-3 22 18048652
hsa-let-7a* hsa-let-7a-1 9 18048652
hsa-let-7a* hsa-let-7a-3 22 18048652
hsa-let-7b hsa-let-7b 22 18048652
hsa-let-7b* hsa-let-7b 22 18048652
hsa-let-7c hsa-let-7c 21 18048652
hsa-let-7c* hsa-let-7c 21 18048652
hsa-let-7d hsa-let-7d 9 18048652
hsa-let-7d* hsa-let-7d 9 18048652
hsa-let-7e hsa-let-7e 19 18048652
hsa-let-7e* hsa-let-7e 19 18048652
hsa-let-7f hsa-let-7f-1 9 18048652
hsa-let-7f hsa-let-7f-2 X 18048652
hsa-let-7f-1* hsa-let-7f-1 9 18048652
hsa-let-7f-2* hsa-let-7f-2 X 18048652
hsa-let-7g hsa-let-7g 3 18048652
hsa-let-7g* hsa-let-7g 3 18048652
hsa-let-7i hsa-let-7i 12 18048652
hsa-let-7i* hsa-let-7i 12 18048652
hsa-miR-130a hsa-mir-130a 11 20197067
hsa-miR-130a* hsa-mir-130a 11 20197067
hsa-miR-196a hsa-mir-196a-1 17 20197067
hsa-miR-196a hsa-mir-196a-2 12 20197067
hsa-miR-200b hsa-mir-200b 1 20197067
hsa-miR-200b* hsa-mir-200b 1 20197067
hsa-miR-32 hsa-mir-32 9 20519410
hsa-miR-32* hsa-mir-32 9 20519410
hsa-miR-363 hsa-mir-363 X 20519410
hsa-miR-363* hsa-mir-363 X 20519410
hsa-miR-367 hsa-mir-367 4 20519410
hsa-miR-367* hsa-mir-367 4 20519410
hsa-miR-369-3p hsa-mir-369 14 18048652
hsa-miR-369-5p hsa-mir-369 14 18048652
hsa-miR-96 hsa-mir-96 7 20197067
hsa-miR-96* hsa-mir-96 7 20197067
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