AutismKB 2.0

Annotation Detail for FBN2


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Basic Information Top
Gene Symbol:FBN2 ( CCA,DA9 )
Gene Full Name: fibrillin 2
Band: 5q23.3
Quick LinksEntrez ID:2201; OMIM: 612570; Uniprot ID:FBN2_HUMAN; ENSEMBL ID: ENSG00000138829; HGNC ID: 3604
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
492N-linked (GlcNAc...) (Potential).
1112N-linked (GlcNAc...).
1414N-linked (GlcNAc...) (Potential).
1529N-linked (GlcNAc...) (Potential).
1625N-linked (GlcNAc...) (Potential).
1714N-linked (GlcNAc...) (Potential).
1745N-linked (GlcNAc...) (Potential).
1756N-linked (GlcNAc...) (Potential).
1945N-linked (GlcNAc...) (Potential).
2120N-linked (GlcNAc...) (Potential).
2225N-linked (GlcNAc...) (Potential).
2808N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
491N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1111N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1413N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1528N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1624N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1713N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1744N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1755N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1944N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2119N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2224N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2807N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
18S-palmitoylHMM predict
97S-palmitoylHMM predict
98S-palmitoylHMM predict
143Phosphoserine(IKK)HMM predict
309Phosphoserine(CAMK2)HMM predict
334O-linkedHMM predict
389S-palmitoylHMM predict
431O-linkedHMM predict
432MethylarginineHMM predict
450Phosphotyrosine(INSR)HMM predict
467Phosphoserine(ATM)HMM predict
467O-linkedHMM predict
491N-linkedHMM predict
833O-linkedHMM predict
1024S-palmitoylHMM predict
1025S-palmitoylHMM predict
1111N-linkedHMM predict
1413N-linkedHMM predict
1528N-linkedHMM predict
1564N-linkedHMM predict
1605S-palmitoylHMM predict
1606S-palmitoylHMM predict
1607S-palmitoylHMM predict
1624N-linkedHMM predict
1713N-linkedHMM predict
1714Phosphotyrosine(INSR)HMM predict
1722Phosphotyrosine(Abl)HMM predict
1722Phosphotyrosine(SRC)HMM predict
1744N-linkedHMM predict
1750N-linkedHMM predict
1755N-linkedHMM predict
1780O-linkedHMM predict
1869Phosphoserine(MAPK)HMM predict
1918S-palmitoylHMM predict
1925Phosphoserine(ATM)HMM predict
1944N-linkedHMM predict
1949N-linkedHMM predict
2074Phosphothreonine(MAPK)HMM predict
2082S-palmitoylHMM predict
2119N-linkedHMM predict
2224N-linkedHMM predict
2229N-linkedHMM predict
2411S-palmitoylHMM predict
2495Phosphoserine(ATM)HMM predict
2557S-palmitoylHMM predict
2700Phosphoserine(CK1)HMM predict
2779Phosphoserine(PKG)HMM predict
2813Phosphoserine(CK1)HMM predict
2888Phosphoserine(CK2)HMM predict
2893Phosphotyrosine(INSR)HMM predict
2893SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001999
  • Location:chr5 127621500-127901633
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 127906222 127906294 72 4625
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 127605062 127605094 32 16423
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 127703212 127703409 197 0
CTCF G2GSE9613 127833753 127834001 248 0
CTCF G2GSE9613 127899923 127901819 1896 0
Fos K562GSE19551 127635588 127635979 391 0
FoxA1 MCF7MACSdata 127638067 127638394 327 0
H3K27me3 colorectalcancer 127899998 127900606 608 0
Jun K562GSE19551 127635647 127636020 373 0
KLF4 hESGSE17917 127719709 127719874 165 0
KLF4 hESGSE17917 127732261 127732421 160 0
Nanog hESGSE18292 127862749 127863316 567 0
Oct1 H2O2-HelaGSE14283 127635545 127635573 28 0
Oct1 H2O2-HelaGSE14283 127724848 127724882 34 0
Oct1 H2O2-HelaGSE14283 127899745 127899772 27 0
Oct1 HelaGSE14283 127635718 127635758 40 0
Oct1 HelaGSE14283 127704966 127704998 32 0
Oct1 HelaGSE14283 127724845 127724891 46 0
Oct1 HelaGSE14283 127731058 127731085 27 0
Oct1 HelaGSE14283 127809126 127809184 58 0
Oct1 HelaGSE14283 127899743 127899784 41 0
Oct4 ESGSE20650 127810894 127811109 215 0
RNAII Tamoxifen-MCF7GSE14664 127899741 127899779 38 0
STAT1 HeLaGSE12782 127653388 127654358 970 0
STAT1 HeLaGSE12783 127653428 127654358 930 0
TFAP2C MCF7GSE21234 127712791 127713286 495 0
hScc1 G2GSE9613 127900100 127901156 1056 0
p63 keratinocytesGSE17611 127682342 127682723 381 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-21 hsa-mir-21 17 19296468
hsa-miR-21* hsa-mir-21 17 19296468
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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