AutismKB 2.0

Annotation Detail for FBN3


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Basic Information Top
Gene Symbol:FBN3 ( KIAA1776 )
Gene Full Name: fibrillin 3
Band: 19p13.2
Quick LinksEntrez ID:84467; OMIM: 608529; Uniprot ID:FBN3_HUMAN; ENSEMBL ID: ENSG00000142449; HGNC ID: 18794
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
406N-linked (GlcNAc...) (Potential).
1025N-linked (GlcNAc...) (Potential).
1442N-linked (GlcNAc...) (Potential).
1538N-linked (GlcNAc...) (Potential).
1627N-linked (GlcNAc...) (Potential).
1658N-linked (GlcNAc...) (Potential).
1668N-linked (GlcNAc...) (Potential).
1858N-linked (GlcNAc...) (Potential).
2033N-linked (GlcNAc...) (Potential).
2713N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
406N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1025N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1442N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1538N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1627N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1658N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1668N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1858N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2033N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2713N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
50Phosphoserine(CDC2)HMM predict
151S-palmitoylHMM predict
319S-palmitoylHMM predict
402O-linkedHMM predict
406N-linkedHMM predict
416Phosphothreonine(PKA)HMM predict
455O-linkedHMM predict
481Phosphothreonine(MAPK)HMM predict
500S-palmitoylHMM predict
618Phosphoserine(PKA)HMM predict
1025N-linkedHMM predict
1047Phosphothreonine(MAPK)HMM predict
1308S-palmitoylHMM predict
1333Phosphoserine(MAPK)HMM predict
1442N-linkedHMM predict
1447N-linkedHMM predict
1478N-linkedHMM predict
1521S-palmitoylHMM predict
1538N-linkedHMM predict
1614Phosphoserine(IKK)HMM predict
1627N-linkedHMM predict
1658N-linkedHMM predict
1663N-linkedHMM predict
1668N-linkedHMM predict
1674S-palmitoylHMM predict
1675S-palmitoylHMM predict
1696Phosphoserine(MAPK)HMM predict
1772Phosphoserine(IKK)HMM predict
1798Phosphoserine(CDC2)HMM predict
1832S-palmitoylHMM predict
1858N-linkedHMM predict
1863N-linkedHMM predict
1954S-palmitoylHMM predict
1996S-palmitoylHMM predict
2033N-linkedHMM predict
2040S-palmitoylHMM predict
2041S-palmitoylHMM predict
2131Phosphoserine(ATM)HMM predict
2246Phosphoserine(IKK)HMM predict
2251Phosphothreonine(CK2)HMM predict
2313Phosphoserine(CK2)HMM predict
2315Phosphoserine(CK1)HMM predict
2326S-palmitoylHMM predict
2395Phosphothreonine(MAPK)HMM predict
2399O-linkedHMM predict
2410Phosphoserine(ATM)HMM predict
2472S-palmitoylHMM predict
2505Phosphothreonine(MAPK)HMM predict
2593S-palmitoylHMM predict
2628Phosphothreonine(MAPK)HMM predict
2655Phosphoserine(CDC2)HMM predict
2661Phosphothreonine(MAPK)HMM predict
2661Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032447
  • Location:chr19 8036287-8118384
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 8125466 8126322 856 7510
CTCF CD4GSE12889 8129409 8129727 318 11184
CTCF CD4SISSRdata 8129409 8129727 318 11184
CTCF HelaGSE12889 8129346 8129786 440 11182
CTCF JurkatGSE12889 8129410 8129660 250 11151
CTCF G2GSE9613 8129191 8129553 362 10988
Fos K562GSE19551 8131847 8132467 620 13773
H3K27me3 colorectalcancer 8118530 8118972 442 367
H3K27me3 colorectalcancer 8121053 8121318 265 2801
H3K27me3 colorectalcancer 8122036 8122317 281 3792
H3K27me3 colorectalcancer 8124137 8124564 427 5966
Nanog hESGSE18292 8129407 8129691 284 11165
P300 T30-glioblastomaGSE21026 8125248 8126320 1072 7400
USF1 HepG2E 8125440 8126210 770 7441
hScc1 BcellGSE12603 8129158 8129553 395 10971
hScc1 CdLSGSE12603 8129048 8129553 505 10916
hScc1 G2GSE9613 8129191 8129553 362 10988
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 8043083 8044856 1773 0
CTCF CD4GSE12889 8040299 8040562 263 0
CTCF CD4SISSRdata 8040299 8040562 263 0
CTCF G2GSE9613 8040030 8040459 429 0
CTCF G2GSE9613 8116605 8117099 494 0
ETS1 JurkatGSE17954 8043516 8044516 1000 0
FoxA1 MCF7MACSdata 8057037 8057229 192 0
Myc K562GSE19551 8116756 8117151 395 0
NFkBII GM12878GSE19485 8067723 8070330 2607 0
NFkBII GM12892GSE19485 8068278 8070304 2026 0
Nanog ESGSE20650 8091542 8091905 363 0
TFAP2C MCF7GSE21234 8056983 8057282 299 0
TFAP2C MCF7GSE21234 8083857 8084533 676 0
TFAP2C MCF7GSE21234 8099872 8100373 501 0
USF1 HepG2E 8060891 8061216 325 0
hScc1 BcellGSE12603 8040140 8040459 319 0
hScc1 BcellGSE12603 8054332 8054657 325 0
hScc1 BcellGSE12603 8058200 8058372 172 0
hScc1 BcellGSE12603 8089633 8089769 136 0
hScc1 BcellGSE12603 8090143 8090344 201 0
hScc1 BcellGSE12603 8117834 8118384 550 0
Validated miRNA targets Top
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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