AutismKB 2.0

Annotation Detail for LMNA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LMNA ( CDCD1,CDDC,CMD1A,CMT2B1,EMD2,FPL,FPLD,HGPS,IDC,LDP1,LFP,LGMD1B,LMN1,LMNC,LMNL1,PRO1 )
Gene Full Name: lamin A/C
Band: 1q22
Quick LinksEntrez ID:4000; OMIM: 150330; Uniprot ID:LMNA_HUMAN; ENSEMBL ID: ENSG00000160789; HGNC ID: 6636
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
10Phosphothreonine.
12Phosphoserine.
18Phosphoserine.
19Phosphothreonine.
22Phosphoserine.
24Phosphothreonine.
97N6-acetyllysine.
108N6-acetyllysine.
114N6-acetyllysine.
270N6-acetyllysine.
277Phosphoserine.
301Phosphoserine.
311N6-acetyllysine.
390Phosphoserine.
392Phosphoserine.
394Phosphothreonine.
395Phosphoserine.
398Phosphoserine.
403Phosphoserine.
404Phosphoserine.
406Phosphoserine.
407Phosphoserine.
409Phosphothreonine.
414Phosphoserine.
416Phosphothreonine.
417N6-acetyllysine.
422Nuclear localization signal (Potential).
423Phosphoserine.
424Phosphothreonine.
450N6-acetyllysine.
458Phosphoserine.
496Phosphothreonine (By similarity).
505Phosphothreonine (By similarity).
507Phosphoserine (By similarity).
510Phosphothreonine (By similarity).
571Phosphoserine (By similarity).
573Phosphoserine (By similarity).
628Phosphoserine.
632Phosphoserine.
636Phosphoserine.
652Phosphoserine.
661Cysteine methyl ester.
Location(AA) Modifications Resource
1Blocked amino end (Met).Swiss-Prot 53.0
5Phosphoserine (PKC
10PhosphothreoninePhospho.ELM 6.0
10Phosphothreonine.Swiss-Prot 53.0
12Phosphoserine (By similarity).Swiss-Prot 53.0
19Phosphothreonine.Swiss-Prot 53.0
19Phosphothreonine (CDK
22Phosphoserine.Swiss-Prot 53.0
22Phosphoserine (CDK
199Phosphothreonine (PKC
277PhosphoserinePhospho.ELM 6.0
277Phosphoserine.Swiss-Prot 53.0
390Phosphoserine.Swiss-Prot 53.0
390PhosphoserinePhospho.ELM 6.0
392PhosphoserinePhospho.ELM 6.0
392Phosphoserine.Swiss-Prot 53.0
395PhosphoserinePhospho.ELM 6.0
395Phosphoserine.Swiss-Prot 53.0
403Phosphoserine (PKC
404Phosphoserine (PKC
406PhosphoserinePhospho.ELM 6.0
407Phosphoserine (By similarity).Swiss-Prot 53.0
407PhosphoserinePhospho.ELM 6.0
409PhosphothreoninePhospho.ELM 6.0
414PhosphoserinePhospho.ELM 6.0
416Phosphothreonine (PKC
417N6-acetyllysine.Swiss-Prot 53.0
423PhosphoserinePhospho.ELM 6.0
424PhosphothreoninePhospho.ELM 6.0
424Phosphothreonine.Swiss-Prot 53.0
480Phosphothreonine (PKC
496Phosphothreonine (By similarity).Swiss-Prot 53.0
505Phosphothreonine (By similarity).Swiss-Prot 53.0
507Phosphoserine (By similarity).Swiss-Prot 53.0
510Phosphothreonine (By similarity).Swiss-Prot 53.0
525PhosphoserinePhospho.ELM 6.0
625Phosphoserine (PKC
628Phosphoserine.Swiss-Prot 53.0
628PhosphoserinePhospho.ELM 6.0
632Phosphoserine.Swiss-Prot 53.0
636PhosphoserinePhospho.ELM 6.0
636Phosphoserine.Swiss-Prot 53.0
652Phosphoserine.Swiss-Prot 53.0
661S-farnesyl cysteine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
10Phosphothreonine(PKA)HMM predict
17O-linkedHMM predict
18O-linkedHMM predict
19Phosphothreonine(CDK)HMM predict
19Phosphothreonine(MAPK)HMM predict
19O-linkedHMM predict
22Phosphoserine(CDC2)HMM predict
22Phosphoserine(CDK)HMM predict
51Phosphoserine(CK1)HMM predict
71O-linkedHMM predict
91Phosphothreonine(PKC)HMM predict
107Phosphoserine(CK1)HMM predict
121Phosphothreonine(PKC)HMM predict
199Phosphothreonine(PKC)HMM predict
307Phosphoserine(ATM)HMM predict
333Phosphothreonine(PKA)HMM predict
333Phosphothreonine(PKC)HMM predict
359Phosphotyrosine(EGFR)HMM predict
390Phosphoserine(CDK)HMM predict
390Phosphoserine(CDC2)HMM predict
392Phosphoserine(CDC2)HMM predict
392Phosphoserine(MAPK)HMM predict
392Phosphoserine(CDK)HMM predict
392Phosphoserine(IKK)HMM predict
394Phosphothreonine(PKC)HMM predict
399MethylarginineHMM predict
404Phosphoserine(PKC)HMM predict
406Phosphoserine(CK1)HMM predict
407Phosphoserine(ATM)HMM predict
407Phosphoserine(CK1)HMM predict
416Phosphothreonine(PKC)HMM predict
429Phosphoserine(CK1)HMM predict
431Phosphoserine(ATM)HMM predict
456N-linkedHMM predict
459N-linkedHMM predict
480Phosphothreonine(PKC)HMM predict
488Phosphothreonine(PKC)HMM predict
496O-linkedHMM predict
505O-linkedHMM predict
507Phosphoserine(ATM)HMM predict
507Phosphoserine(IKK)HMM predict
532N-linkedHMM predict
548Phosphothreonine(PKC)HMM predict
572Phosphoserine(CK1)HMM predict
599O-linkedHMM predict
603O-linkedHMM predict
603Phosphoserine(IKK)HMM predict
612O-linkedHMM predict
615Phosphoserine(IKK)HMM predict
615O-linkedHMM predict
618O-linkedHMM predict
619Phosphoserine(CK1)HMM predict
621Phosphothreonine(PKC)HMM predict
621O-linkedHMM predict
623O-linkedHMM predict
650N-linkedHMM predict
652Phosphoserine(CDC2)HMM predict
657Phosphoserine(IKK)HMM predict
657Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005572
  • Location:chr1 154351121-154374279
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 154341415 154343367 1952 8731
CTCF CD4GSE12889 154332958 154333388 430 17949
CTCF CD4SISSRdata 154332958 154333388 430 17949
CTCF HelaGSE12889 154332992 154333410 418 17921
CTCF G2GSE9613 154332691 154333808 1117 17872
CTCF G2GSE9613 154337946 154338144 198 13077
Fos K562GSE19551 154350313 154351433 1120 249
H3K4me2 HCT116GSE10453 154344615 154344827 212 6401
H3ac HepG2E 154343318 154344038 720 7444
NFkBII GM10847GSE19485 154342428 154343858 1430 7979
NFkBII GM12878GSE19485 154332457 154335186 2729 17300
NFkBII GM12878GSE19485 154342169 154343539 1370 8268
NFkBII GM12892GSE19485 154332173 154335193 3020 17439
NFkBII GM12892GSE19485 154342202 154343661 1459 8190
NFkBII GM18505GSE19485 154342462 154343456 994 8163
Oct1 HelaGSE14283 154343194 154343270 76 7890
P300 T30-glioblastomaGSE21026 154341818 154343820 2002 8303
Rb GrowingGSE19898 154344011 154344177 166 7028
Rb QuiescentGSE19898 154332556 154332733 177 18477
Rb shRbSenescenceGSE19898 154342608 154342825 217 8405
TFAP2C MCF7GSE21234 154336689 154337327 638 14114
TFAP2C MCF7GSE21234 154340403 154340933 530 10454
hScc1 BcellGSE12603 154332691 154333733 1042 17910
hScc1 BcellGSE12603 154342817 154343318 501 8054
hScc1 CdLSGSE12603 154332425 154333777 1352 18021
p130 QuiescentGSE19898 154342611 154342981 370 8326
p130 QuiescentGSE19898 154343096 154343300 204 7924
p130 QuiescentGSE19898 154350600 154350842 242 401
p130 SenescentGSE19898 154333525 154333767 242 17476
p130 SenescentGSE19898 154340338 154341367 1029 10269
p130 shRbQuiescentGSE19898 154342579 154342954 375 8355
p130 shRbQuiescentGSE19898 154343293 154343753 460 7599
p130 shRbSenescentGSE19898 154340359 154341230 871 10327
p130 shRbSenescentGSE19898 154342488 154343048 560 8354
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 154366695 154367142 447 0
CTCF CD4SISSRdata 154366695 154367142 447 0
CTCF HelaGSE12889 154366780 154367053 273 0
CTCF JurkatGSE12889 154366703 154367026 323 0
CTCF G2GSE9613 154350917 154351406 489 0
CTCF G2GSE9613 154359896 154360369 473 0
CTCF G2GSE9613 154366791 154367222 431 0
CTCF G2GSE9613 154371307 154371705 398 0
CTCF G2GSE9613 154372488 154373380 892 0
ETS1 JurkatGSE17954 154362369 154363016 647 0
H3K4me3 colorectalcancer 154352700 154352976 276 0
H3ac HepG2E 154351820 154352976 1156 0
H3ac HepG2E 154354537 154354808 271 0
H3ac HepG2E 154355064 154355315 251 0
H3ac HepG2E 154357160 154357431 271 0
H3ac HepG2E 154357741 154358230 489 0
H3ac HepG2E 154359044 154359945 901 0
H3ac HepG2E 154364658 154364987 329 0
Myc hESGSE17917 154366611 154367065 454 0
NFkBII GM12878GSE19485 154362259 154364485 2226 0
RARA MCF7GSE15244 154359367 154360260 893 0
SRF GMOGSE8489 154363665 154363875 210 0
TFAP2C MCF7GSE21234 154359549 154360656 1107 0
TFAP2C MCF7GSE21234 154366377 154367162 785 0
hScc1 BcellGSE12603 154350957 154351370 413 0
hScc1 BcellGSE12603 154363126 154363875 749 0
hScc1 BcellGSE12603 154366619 154367156 537 0
hScc1 BcellGSE12603 154372376 154372752 376 0
hScc1 CdLSGSE12603 154363730 154363875 145 0
hScc1 CdLSGSE12603 154366331 154367262 931 0
p130 QuiescentGSE19898 154359251 154359602 351 0
p130 SenescentGSE19898 154351035 154351307 272 0
p130 SenescentGSE19898 154359552 154360540 988 0
p130 shRbQuiescentGSE19898 154351953 154352839 886 0
p130 shRbQuiescentGSE19898 154359051 154360364 1313 0
p130 shRbQuiescentGSE19898 154365494 154366023 529 0
p130 shRbQuiescentGSE19898 154366178 154366962 784 0
p130 shRbSenescentGSE19898 154360022 154360274 252 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved