AutismKB 2.0

Annotation Detail for FMR1


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Basic Information Top
Gene Symbol:FMR1 ( FMRP,FRAXA,MGC87458,POF,POF1 )
Gene Full Name: fragile X mental retardation 1
Band: Xq27.3
Quick LinksEntrez ID:2332; OMIM: 309550; Uniprot ID:FMR1_HUMAN; ENSEMBL ID: ENSG00000102081; HGNC ID: 3775
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
500Phosphoserine.
544Omega-N-methylated arginine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
60N-linkedHMM predict
78S-palmitoylHMM predict
160O-linkedHMM predict
341N-linkedHMM predict
342N-linkedHMM predict
361N-linkedHMM predict
366Phosphoserine(ATM)HMM predict
369N-linkedHMM predict
412N-linkedHMM predict
423Phosphotyrosine(Jak)HMM predict
453N-linkedHMM predict
494Phosphoserine(IKK)HMM predict
498N-linkedHMM predict
500Phosphoserine(CK1)HMM predict
504Phosphoserine(CK1)HMM predict
514Phosphoserine(IKK)HMM predict
544MethylarginineHMM predict
546MethylarginineHMM predict
559Phosphothreonine(CDK)HMM predict
597N-linkedHMM predict
607Phosphothreonine(PKC)HMM predict
620Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002024
  • Location:chrX 146801200-146840302
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 146800951 146801434 483 8
TFAP2C MCF7GSE21234 146788847 146789221 374 12167
USF1 HepG2E 146799351 146800851 1500 1100
hScc1 BcellGSE12603 146800685 146801489 804 114
hScc1 G2GSE9613 146800951 146801160 209 145
p130 shRbSenescentGSE19898 146800656 146801105 449 320
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 146849468 146849500 32 9182
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 146801834 146802199 365 0
H3K4me3 colorectalcancer 146802440 146803094 654 0
H3ac HepG2E 146801916 146803962 2046 0
Oct1 HelaGSE14283 146803520 146803569 49 0
Oct1 HelaGSE14283 146825540 146825576 36 0
Oct1 HelaGSE14283 146838567 146838643 76 0
Oct1 HelaGSE14283 146839752 146839791 39 0
p130 QuiescentGSE19898 146817013 146817204 191 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 17167072
hsa-let-7a hsa-let-7a-2 11 17167072
hsa-let-7a hsa-let-7a-3 22 17167072
hsa-let-7a hsa-let-7a-1 9 17167072
hsa-let-7a hsa-let-7a-2 11 17167072
hsa-let-7a hsa-let-7a-3 22 17167072
hsa-let-7a* hsa-let-7a-1 9 17167072
hsa-let-7a* hsa-let-7a-3 22 17167072
hsa-let-7a* hsa-let-7a-1 9 17167072
hsa-let-7a* hsa-let-7a-3 22 17167072
hsa-let-7b hsa-let-7b 22 17167072
hsa-let-7b hsa-let-7b 22 17167072
hsa-let-7b* hsa-let-7b 22 17167072
hsa-let-7b* hsa-let-7b 22 17167072
hsa-let-7c hsa-let-7c 21 17167072
hsa-let-7c hsa-let-7c 21 17167072
hsa-let-7c* hsa-let-7c 21 17167072
hsa-let-7c* hsa-let-7c 21 17167072
hsa-let-7d hsa-let-7d 9 17167072
hsa-let-7d hsa-let-7d 9 17167072
hsa-let-7d* hsa-let-7d 9 17167072
hsa-let-7d* hsa-let-7d 9 17167072
hsa-let-7e hsa-let-7e 19 17167072
hsa-let-7e hsa-let-7e 19 17167072
hsa-let-7e* hsa-let-7e 19 17167072
hsa-let-7e* hsa-let-7e 19 17167072
hsa-let-7f hsa-let-7f-1 9 17167072
hsa-let-7f hsa-let-7f-2 X 17167072
hsa-let-7f hsa-let-7f-1 9 17167072
hsa-let-7f hsa-let-7f-2 X 17167072
hsa-let-7f-1* hsa-let-7f-1 9 17167072
hsa-let-7f-1* hsa-let-7f-1 9 17167072
hsa-let-7f-2* hsa-let-7f-2 X 17167072
hsa-let-7f-2* hsa-let-7f-2 X 17167072
hsa-let-7g hsa-let-7g 3 17167072
hsa-let-7g hsa-let-7g 3 17167072
hsa-let-7g* hsa-let-7g 3 17167072
hsa-let-7g* hsa-let-7g 3 17167072
hsa-let-7i hsa-let-7i 12 17167072
hsa-let-7i hsa-let-7i 12 17167072
hsa-let-7i* hsa-let-7i 12 17167072
hsa-let-7i* hsa-let-7i 12 17167072
hsa-miR-124 hsa-mir-124-1 8 17167072
hsa-miR-124 hsa-mir-124-2 8 17167072
hsa-miR-124 hsa-mir-124-3 20 17167072
hsa-miR-124 hsa-mir-124-1 8 17167072
hsa-miR-124 hsa-mir-124-2 8 17167072
hsa-miR-124 hsa-mir-124-3 20 17167072
hsa-miR-125a-3p hsa-mir-125a 19 17167072
hsa-miR-125a-3p hsa-mir-125a 19 17167072
hsa-miR-125a-5p hsa-mir-125a 19 17167072
hsa-miR-125a-5p hsa-mir-125a 19 17167072
hsa-miR-125b hsa-mir-125b-1 11 20159450
hsa-miR-125b hsa-mir-125b-2 21 20159450
hsa-miR-125b hsa-mir-125b-1 11 17167072
hsa-miR-125b hsa-mir-125b-2 21 17167072
hsa-miR-125b hsa-mir-125b-1 11 20159450
hsa-miR-125b hsa-mir-125b-2 21 20159450
hsa-miR-125b hsa-mir-125b-1 11 17167072
hsa-miR-125b hsa-mir-125b-2 21 17167072
hsa-miR-125b-1* hsa-mir-125b-1 11 17167072
hsa-miR-125b-1* hsa-mir-125b-1 11 17167072
hsa-miR-125b-2* hsa-mir-125b-2 21 17167072
hsa-miR-125b-2* hsa-mir-125b-2 21 17167072
hsa-miR-128 hsa-mir-128-1 2 17167072
hsa-miR-128 hsa-mir-128-2 3 17167072
hsa-miR-128 hsa-mir-128-1 2 17167072
hsa-miR-128 hsa-mir-128-2 3 17167072
hsa-miR-130a hsa-mir-130a 11 20197067
hsa-miR-130a hsa-mir-130a 11 20197067
hsa-miR-130a* hsa-mir-130a 11 20197067
hsa-miR-130a* hsa-mir-130a 11 20197067
hsa-miR-132 hsa-mir-132 17 20159450
hsa-miR-132 hsa-mir-132 17 20159450
hsa-miR-132* hsa-mir-132 17 20159450
hsa-miR-132* hsa-mir-132 17 20159450
hsa-miR-142-3p hsa-mir-142 17 20435064
hsa-miR-142-3p hsa-mir-142 17 20435064
hsa-miR-142-5p hsa-mir-142 17 20435064
hsa-miR-142-5p hsa-mir-142 17 20435064
hsa-miR-196a hsa-mir-196a-1 17 20197067
hsa-miR-196a hsa-mir-196a-2 12 20197067
hsa-miR-196a hsa-mir-196a-1 17 20197067
hsa-miR-196a hsa-mir-196a-2 12 20197067
hsa-miR-19a hsa-mir-19a 13 20435064
hsa-miR-19a hsa-mir-19a 13 20435064
hsa-miR-19a* hsa-mir-19a 13 20435064
hsa-miR-19a* hsa-mir-19a 13 20435064
hsa-miR-19b hsa-mir-19b-1 13 20435064
hsa-miR-19b hsa-mir-19b-2 X 20435064
hsa-miR-19b hsa-mir-19b-1 13 20435064
hsa-miR-19b hsa-mir-19b-2 X 20435064
hsa-miR-200b hsa-mir-200b 1 20197067
hsa-miR-200b hsa-mir-200b 1 20197067
hsa-miR-200b* hsa-mir-200b 1 20197067
hsa-miR-200b* hsa-mir-200b 1 20197067
hsa-miR-302b* hsa-mir-302b 4 20435064
hsa-miR-302b* hsa-mir-302b 4 20435064
hsa-miR-32 hsa-mir-32 9 20519410
hsa-miR-32 hsa-mir-32 9 20519410
hsa-miR-32* hsa-mir-32 9 20519410
hsa-miR-32* hsa-mir-32 9 20519410
hsa-miR-323-3p hsa-mir-323 14 20435064
hsa-miR-323-3p hsa-mir-323 14 20435064
hsa-miR-363 hsa-mir-363 X 20519410
hsa-miR-363 hsa-mir-363 X 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-367* hsa-mir-367 4 20519410
hsa-miR-367* hsa-mir-367 4 20519410
hsa-miR-9 hsa-mir-9-1 1 17379214
hsa-miR-9 hsa-mir-9-2 5 17379214
hsa-miR-9 hsa-mir-9-3 15 17379214
hsa-miR-9 hsa-mir-9-1 1 17379214
hsa-miR-9 hsa-mir-9-2 5 17379214
hsa-miR-9 hsa-mir-9-3 15 17379214
hsa-miR-96 hsa-mir-96 7 20197067
hsa-miR-96 hsa-mir-96 7 20197067
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


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