AutismKB 2.0

Annotation Detail for LEMD3


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Basic Information Top
Gene Symbol:LEMD3 ( MAN1 )
Gene Full Name: LEM domain containing 3
Band: 12q14.3
Quick LinksEntrez ID:23592; OMIM: 607844; Uniprot ID:MAN1_HUMAN; ENSEMBL ID: ENSG00000174106; HGNC ID: 28887
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
140Phosphoserine.
141Phosphoserine.
144Phosphoserine.
185Phosphoserine.
187Phosphoserine.
258Phosphotyrosine (By similarity).
259Phosphoserine.
261Phosphoserine.
280Phosphoserine.
331Phosphoserine.
352Phosphoserine.
365Phosphothreonine.
377Phosphoserine.
402Phosphoserine.
777Phosphoserine.
911Phosphoserine.
Location(AA) Modifications Resource
144PhosphoserinePhospho.ELM 6.0
258Phosphotyrosine (By similarity).Swiss-Prot 53.0
259Phosphoserine.Swiss-Prot 53.0
261Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphoserine(CK2)HMM predict
27Phosphoserine(CDC2)HMM predict
61N-linkedHMM predict
65N-linkedHMM predict
67N-linkedHMM predict
69N-linkedHMM predict
70N-linkedHMM predict
100Phosphotyrosine(Jak)HMM predict
126O-linkedHMM predict
144Phosphoserine(CK1)HMM predict
209PhosphothreonineHMM predict
209Phosphothreonine(CDC2)HMM predict
209Phosphothreonine(MAPK)HMM predict
245N-linkedHMM predict
257N-linkedHMM predict
259Phosphoserine(CK2)HMM predict
259Phosphoserine(CK2)HMM predict
261Phosphoserine(CK2)HMM predict
261PhosphoserineHMM predict
280Phosphoserine(CK1)HMM predict
282Phosphoserine(CK1)HMM predict
291Phosphoserine(IKK)HMM predict
291Phosphoserine(CAMK2)HMM predict
291Phosphoserine(PKA)HMM predict
352Phosphoserine(CDC2)HMM predict
352PhosphoserineHMM predict
385Phosphoserine(IKK)HMM predict
399Phosphoserine(ATM)HMM predict
399Phosphoserine(CAMK2)HMM predict
428N-linkedHMM predict
433N-linkedHMM predict
439N-linkedHMM predict
441Phosphotyrosine(Syk)HMM predict
447Phosphoserine(CK2)HMM predict
463Phosphoserine(IKK)HMM predict
549Phosphoserine(CK1)HMM predict
550Phosphoserine(CDC2)HMM predict
576N-linkedHMM predict
604N-linkedHMM predict
622S-palmitoylHMM predict
693Phosphotyrosine(Syk)HMM predict
726N-linkedHMM predict
732Phosphothreonine(CDK)HMM predict
777Phosphoserine(PKG)HMM predict
777Phosphoserine(CDC2)HMM predict
777Phosphoserine(PKB)HMM predict
777Phosphoserine(PKA)HMM predict
862Phosphothreonine(PKC)HMM predict
907Phosphoserine(ATM)HMM predict
907Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014319
  • Location:chr12 63849637-63928373
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 63849178 63849830 652 134
FOXA1 MCF7GSE15244 63849226 63849599 373 225
Nanog ESGSE20650 63833151 63833532 381 16296
Pol2 GM12878GSE19551 63849119 63850066 947 45
RARA MCF7GSE15244 63849035 63849484 449 378
RARG MCF7GSE15244 63849153 63849449 296 337
Rb SenescentGSE19898 63849217 63849892 675 83
Rb shRbSenescenceGSE19898 63849248 63849685 437 171
TAF HelaGSE8489 63848886 63849449 563 470
hScc1 BcellGSE12603 63849333 63849692 359 125
p130 SenescentGSE19898 63849346 63849861 515 34
p130 shRbSenescentGSE19898 63849322 63849857 535 48
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 63929258 63929722 464 1117
Oct1 H2O2-HelaGSE14283 63935674 63935713 39 7320
Oct1 H2O2-HelaGSE14283 63939931 63939970 39 11577
Oct1 HelaGSE14283 63935675 63935714 39 7321
Oct1 HelaGSE14283 63939931 63939970 39 11577
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63849333 63850587 1254 0
FOXA1 MCF7GSE15244 63850266 63851139 873 0
H3K4me2 HCT116GSE10453 63850814 63851321 507 0
H3K4me3 colorectalcancer 63850554 63851442 888 0
H3ac HepG2E 63850474 63851285 811 0
Oct1 H2O2-HelaGSE14283 63869015 63869055 40 0
Oct1 H2O2-HelaGSE14283 63885003 63885034 31 0
Oct1 H2O2-HelaGSE14283 63901049 63901077 28 0
Oct1 HelaGSE14283 63869015 63869054 39 0
Oct1 HelaGSE14283 63893031 63893066 35 0
PHF8 293TGSE20725 63849046 63850296 1250 0
PHF8 HeLaGSE20725 63849122 63850747 1625 0
PHF8 Hs68minusFBSGSE20725 63849128 63850195 1067 0
PHF8 Hs68plusFBSGSE20725 63849203 63851036 1833 0
RARG MCF7GSE15244 63850531 63851212 681 0
hScc1 BcellGSE12603 63850040 63850888 848 0
hScc1 CdLSGSE12603 63850142 63850787 645 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