AutismKB 2.0

Annotation Detail for LMNA


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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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body21 / 70761296
blastocyst6 / 6231996
fetus149 / 564012264
neonate148 / 310974759
infant2 / 2362084
juvenile58 / 555561043
adult1120 / 1939121577
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma4 / 17475228
breast (mammary gland) tumor71 / 94178753
cervical tumor29 / 34366843
chondrosarcoma43 / 82823519
colorectal tumor64 / 114246560
esophageal tumor26 / 172901503
gastrointestinal tumor97 / 119369812
germ cell tumor258 / 263845977
glioma148 / 1068831384
head and neck tumor169 / 1363021239
kidney tumor69 / 689591000
leukemia58 / 95842605
liver tumor81 / 96359840
lung tumor129 / 1031271250
lymphoma1 / 7175513
non-neoplasia196 / 972502015
normal2578 / 3360307767
ovarian tumor67 / 76682873
pancreatic tumor173 / 1046161653
primitive neuroectodermal tumor of the CNS158 / 1256801257
prostate cancer47 / 102680457
retinoblastoma6 / 46356129
skin tumor156 / 1249491248
soft tissue/muscle tissue tumor40 / 125191319
uterine tumor55 / 90257609
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue15 / 131061144
adrenal gland44 / 331971325
ascites58 / 400151449
bladder25 / 29757840
blood34 / 123478275
bone47 / 71655655
bone marrow15 / 48801307
brain648 / 1100989588
cervix50 / 481711037
connective tissue396 / 1492552653
ear0 / 162120 
embryonic tissue57 / 215722264
esophagus34 / 202091682
eye72 / 211054341
heart70 / 89626781
intestine214 / 234472912
kidney243 / 2117771147
larynx10 / 24145414
liver115 / 207743553
lung399 / 3369741184
lymph0 / 442700 
lymph node7 / 9161076
mammary gland134 / 153271874
mouth230 / 670523430
muscle11 / 107715102
nerve8 / 15768507
ovary82 / 102051803
pancreas219 / 2148121019
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta273 / 280825972
prostate103 / 189345543
salivary gland15 / 20155744
skin425 / 2105742018
spleen69 / 539521278
stomach60 / 96619620
testis105 / 330442317
thymus30 / 81131369
thyroid21 / 47473442
tonsil0 / 169990 
trachea91 / 524131736
umbilical cord5 / 13680365
uterus299 / 2328781283
vascular130 / 517802510
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203411_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts752.65
Adipocyte630.6
AdrenalCortex210.1
Adrenalgland212.25
Amygdala50.35
Appendix70.25
AtrioventricularNode66.25
BDCA4+_DentriticCells48.65
Bonemarrow94.55
BronchialEpithelialCells511.85
CD105+_Endothelial573.35
CD14+_Monocytes54.35
CD19+_BCells(neg._sel.)44.85
CD33+_Myeloid49.1
CD34+228.7
CD4+_Tcells30.25
CD56+_NKCells33.95
CD71+_EarlyErythroid313.5
CD8+_Tcells26.2
CardiacMyocytes996.15
Caudatenucleus56.85
Cerebellum45.4
CerebellumPeduncles116.45
CiliaryGanglion187.55
CingulateCortex68.55
Colorectaladenocarcinoma992.05
DorsalRootGanglion103.25
FetalThyroid439.75
Fetalbrain43.3
Fetalliver69.9
Fetallung252.7
GlobusPallidus40.75
Heart441.15
Hypothalamus83.4
Kidney99.75
Leukemia_chronicMyelogenousK-562160.25
Leukemia_promyelocytic-HL-6036.85
Leukemialymphoblastic(MOLT-4)25.25
Liver265.45
Lung847.3
Lymphnode83.35
Lymphoma_burkitts(Daudi)41.05
Lymphoma_burkitts(Raji)56.85
MedullaOblongata51.65
OccipitalLobe44.25
OlfactoryBulb121.8
Ovary127.3
Pancreas103.4
PancreaticIslet155.2
ParietalLobe53.9
Pituitary108.5
Placenta716.55
Pons61.55
PrefrontalCortex85.3
Prostate459.7
Salivarygland22.55
SkeletalMuscle83.35
Skin131.75
SmoothMuscle593.25
Spinalcord93.5
SubthalamicNucleus64.1
SuperiorCervicalGanglion79.1
TemporalLobe47.05
Testis99.55
TestisGermCell123.75
TestisIntersitial95.9
TestisLeydigCell89.5
TestisSeminiferousTubule84.95
Thalamus71.3
Thymus77.2
Thyroid520.55
Tongue328.25
Tonsil178.35
Trachea187.7
TrigeminalGanglion113.85
Uterus422.65
UterusCorpus81.3
WholeBlood21
Wholebrain45.05
colon217.6
pineal_day108.22
pineal_night116.14
retina280.075
small_intestine214.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P34835
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala8.18 ± 0.34
Basal Forebrain8.5 ± 0.32
Basal Part of Pons8.42 ± 0.34
Cerebellar Cortex8.28 ± 0.13
Cerebellar Nuclei8.84 ± 0.43
Claustrum8.07 ± 0.26
Epithalamus9.28 ± 0.27
Frontal Lobe8.36 ± 0.4
Globus Pallidus9.5 ± 0.23
Hypothalamus8.76 ± 0.39
Insula8.21 ± 0.23
Limbic Lobe8.16 ± 0.42
Mesencephalon8.47 ± 0.41
Myelencephalon8.5 ± 0.33
Occipital Lobe8.45 ± 0.48
Parietal Lobe8.26 ± 0.32
Pontine Tegmentum8.52 ± 0.3
Striatum8.77 ± 0.43
Subthalamus8.72 ± 0.2
Temporal Lobe8.26 ± 0.32
Thalamus8.56 ± 0.29
White Matter10.14 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
LmnaCBCerebellum6.35
7.63
LmnaCTXCerebral cortex48.06
36
LmnaHIPHippocampal region17.52
17.6
LmnaHPFHippocampal formation19.13
17.17
LmnaHYHypothalamus12.38
10.57
LmnaLSXLateral septal complex9.75
8.65
LmnaMBMidbrain10.68
10.93
LmnaMYMedulla17.23
22.58
LmnaOLFOlfactory bulb22.72
19.23
LmnaPPons19.28
22.77
LmnaPALPallidum5.54
5.17
LmnaRHPRetrohippocampal region23.53
17.64
LmnasAMYStriatum-like amygdalar nuclei6.34
4.83
LmnaSTRStriatum6.32
5.3
LmnaSTRdStriatum dorsal region5.8
5.1
LmnaSTRvStriatum ventral region5.32
3.84
LmnaTHThalamus8.19
7.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LMNA_HUMAN_1 7 1 7 METPSQR PRIDE
LMNA_HUMAN_12 14 12 25 SGAQASSTPLSPTR PRIDE
LMNA_HUMAN_134 11 134 144 LKDLEALLNSK PRIDE
LMNA_HUMAN_180 10 180 189 KKQLQDEMLR PRIDE
LMNA_HUMAN_181 9 181 189 KQLQDEMLR PRIDE
LMNA_HUMAN_182 8 182 189 QLQDEMLR PRIDE
LMNA_HUMAN_197 12 197 208 LQTMKEELDFQK PRIDE
LMNA_HUMAN_241 9 241 249 LADALQELR PRIDE
LMNA_HUMAN_250 12 250 261 AQHEDQVEQYKK PRIDE
LMNA_HUMAN_299 13 299 311 IDSLSAQLSQLQK PRIDE
LMNA_HUMAN_30 12 30 41 QEKEDLQELNDR PRIDE
LMNA_HUMAN_320 10 320 329 LRDLEDSLAR PRIDE
LMNA_HUMAN_367 11 367 377 LALDMEIHAYR PRIDE
LMNA_HUMAN_440 11 440 450 VAVEEVDEEGK PRIDE
LMNA_HUMAN_472 11 472 482 QNGDDPLLTYR PRIDE
LMNA_HUMAN_51 10 51 60 SLETENAGLR PRIDE
LMNA_HUMAN_528 14 528 541 TALINSTGEEVAMR PRIDE
LMNA_HUMAN_63 10 63 72 ITESEEVVSR PRIDE
PAp00000665 12 516 527 AQNTWGCGNSLR Peptide Atlas

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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