AutismKB 2.0

Annotation Detail for FBN1


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Basic Information Top
Gene Symbol:FBN1 ( FBN,MASS,MFS1,OCTD,SGS,SSKS,WMS )
Gene Full Name: fibrillin 1
Band: 15q21.1
Quick LinksEntrez ID:2200; OMIM: 134797; Uniprot ID:FBN1_HUMAN; ENSEMBL ID: ENSG00000166147; HGNC ID: 3603
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
448N-linked (GlcNAc...).
1067N-linked (GlcNAc...).
1103Phosphoserine (By similarity).
1149N-linked (GlcNAc...) (Potential).
1369N-linked (GlcNAc...) (Potential).
1484N-linked (GlcNAc...).
1581N-linked (GlcNAc...).
1669N-linked (GlcNAc...) (Potential).
1703N-linked (GlcNAc...) (Potential).
1713N-linked (GlcNAc...) (Potential).
1902N-linked (GlcNAc...) (Potential).
2071Phosphoserine (By similarity).
2077N-linked (GlcNAc...) (Potential).
2178N-linked (GlcNAc...) (Potential).
2734N-linked (GlcNAc...) (Potential).
2750N-linked (GlcNAc...) (Potential).
2767N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
448N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1067N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1149N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1369N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1484N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1581N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1669N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1703N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1713N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1902N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2077N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2734N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2750N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2767N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
150S-palmitoylHMM predict
152Phosphoserine(IKK)HMM predict
322Phosphoserine(CDC2)HMM predict
360S-palmitoylHMM predict
434Phosphotyrosine(Abl)HMM predict
448N-linkedHMM predict
713Phosphoserine(IKK)HMM predict
784Phosphothreonine(MAPK)HMM predict
990Phosphothreonine(PKC)HMM predict
1067N-linkedHMM predict
1149N-linkedHMM predict
1315O-linkedHMM predict
1369N-linkedHMM predict
1375Phosphoserine(ATM)HMM predict
1484N-linkedHMM predict
1489N-linkedHMM predict
1520N-linkedHMM predict
1563S-palmitoylHMM predict
1564S-palmitoylHMM predict
1581N-linkedHMM predict
1669N-linkedHMM predict
1678Phosphotyrosine(Abl)HMM predict
1700Phosphotyrosine(Syk)HMM predict
1703N-linkedHMM predict
1713N-linkedHMM predict
1721S-palmitoylHMM predict
1876S-palmitoylHMM predict
1902N-linkedHMM predict
1907N-linkedHMM predict
1962Phosphotyrosine(Syk)HMM predict
2072Phosphoserine(CDC2)HMM predict
2077N-linkedHMM predict
2084S-palmitoylHMM predict
2085S-palmitoylHMM predict
2178N-linkedHMM predict
2183N-linkedHMM predict
2365S-palmitoylHMM predict
2511S-palmitoylHMM predict
2563Phosphoserine(CK2)HMM predict
2694MethylarginineHMM predict
2733Phosphothreonine(PKA)HMM predict
2734N-linkedHMM predict
2739Phosphoserine(CK2)HMM predict
2740N-linkedHMM predict
2750N-linkedHMM predict
2767N-linkedHMM predict
2773N-linkedHMM predict
2849Phosphotyrosine(Syk)HMM predict
2853Phosphotyrosine(Jak)HMM predict
2853Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000138
  • Location:chr15 46487796-46725209
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 46725944 46727002 1058 1264
Oct1 H2O2-HelaGSE14283 46742388 46742419 31 17194
Pol2 GM12878GSE19551 46724849 46725801 952 116
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 46481609 46483302 1693 5341
NFkBII GM12892GSE19485 46482011 46483299 1288 5142
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46720955 46721127 172 0
CTCF G2GSE9613 46724093 46725760 1667 0
FoxA1 MCF7MACSdata 46494558 46494897 339 0
FoxA1 MCF7MACSdata 46497958 46498180 222 0
Gata2 K562GSE18868 46659573 46660194 621 0
H3K27me3 colorectalcancer 46722832 46724199 1367 0
H3K4me3 colorectalcancer 46723453 46724163 710 0
Nanog ESGSE20650 46646317 46646611 294 0
Oct1 H2O2-HelaGSE14283 46546518 46546547 29 0
Oct1 H2O2-HelaGSE14283 46572664 46572693 29 0
P300 T0-glioblastomaGSE21026 46661594 46662327 733 0
P300 T30-glioblastomaGSE21026 46661642 46663299 1657 0
P300 T30-glioblastomaGSE21026 46671656 46672346 690 0
Stat6 IL-4-hr4GSE17850 46520686 46521443 757 0
TFAP2C MCF7GSE21234 46504510 46504929 419 0
hScc1 BcellGSE12603 46720877 46721277 400 0
hScc1 BcellGSE12603 46724093 46725259 1166 0
hScc1 CdLSGSE12603 46720736 46721378 642 0
p130 shRbSenescentGSE19898 46512701 46512953 252 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-135a hsa-mir-135a-1 3 18723672
hsa-miR-135a hsa-mir-135a-2 12 18723672
hsa-miR-183 hsa-mir-183 7 19699278
hsa-miR-183* hsa-mir-183 7 19699278
hsa-miR-29a hsa-mir-29a 7 18723672
hsa-miR-29a* hsa-mir-29a 7 18723672
hsa-miR-29b hsa-mir-29b-1 7 19956414
hsa-miR-29b hsa-mir-29b-2 1 19956414
hsa-miR-29b hsa-mir-29b-1 7 18723672
hsa-miR-29b hsa-mir-29b-2 1 18723672
hsa-miR-29b-1* hsa-mir-29b-1 7 19956414
hsa-miR-96 hsa-mir-96 7 19699278
hsa-miR-96* hsa-mir-96 7 19699278
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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