AutismKB 2.0

Annotation Detail for PDLIM5


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Basic Information Top
Gene Symbol:PDLIM5 ( ENH,ENH1,LIM )
Gene Full Name: PDZ and LIM domain 5
Band: 4q22.3
Quick LinksEntrez ID:10611; OMIM: 605904; Uniprot ID:PDLI5_HUMAN; ENSEMBL ID: ENSG00000163110; HGNC ID: 17468
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 body9 / 70761127
blastocyst5 / 6231980
fetus95 / 564012168
neonate6 / 31097192
infant0 / 236200 
juvenile2 / 5555635
adult305 / 1939121157
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor8 / 11424670
esophageal tumor2 / 17290115
gastrointestinal tumor15 / 119369125
germ cell tumor3 / 26384511
glioma5 / 10688346
head and neck tumor12 / 13630288
kidney tumor8 / 68959116
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia9 / 9725092
normal558 / 3360307166
ovarian tumor7 / 7668291
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer16 / 102680155
retinoblastoma3 / 4635664
skin tumor11 / 12494988
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites1 / 4001524
bladder3 / 29757100
blood4 / 12347832
bone18 / 71655251
bone marrow8 / 48801163
brain84 / 110098976
cervix2 / 4817141
connective tissue16 / 149255107
ear2 / 16212123
embryonic tissue25 / 215722115
esophagus2 / 2020998
eye23 / 211054108
heart62 / 89626691
intestine18 / 23447276
kidney33 / 211777155
larynx3 / 24145124
liver22 / 207743105
lung23 / 33697468
lymph1 / 4427022
lymph node2 / 9161021
mammary gland30 / 153271195
mouth8 / 67052119
muscle104 / 107715965
nerve1 / 1576863
ovary8 / 10205178
pancreas19 / 21481288
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta45 / 280825160
prostate31 / 189345163
salivary gland0 / 201550 
skin22 / 210574104
spleen3 / 5395255
stomach14 / 96619144
testis13 / 33044239
thymus2 / 8113124
thyroid7 / 47473147
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus40 / 232878171
vascular21 / 51780405
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211681_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.65
Adipocyte9.7
AdrenalCortex4.8
Adrenalgland3.8
Amygdala4.65
Appendix4.65
AtrioventricularNode3.55
BDCA4+_DentriticCells6.95
Bonemarrow9.25
BronchialEpithelialCells10.35
CD105+_Endothelial5
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)5.1
CD33+_Myeloid6.15
CD34+6.3
CD4+_Tcells5.25
CD56+_NKCells5.8
CD71+_EarlyErythroid4.3
CD8+_Tcells4.7
CardiacMyocytes29.8
Caudatenucleus4.1
Cerebellum3.6
CerebellumPeduncles5.25
CiliaryGanglion3.25
CingulateCortex4.6
Colorectaladenocarcinoma4.95
DorsalRootGanglion3.5
FetalThyroid5.15
Fetalbrain6.3
Fetalliver11.55
Fetallung6.4
GlobusPallidus3.35
Heart5.95
Hypothalamus4.95
Kidney3.75
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-604.15
Leukemialymphoblastic(MOLT-4)3.8
Liver8.8
Lung5.2
Lymphnode5.7
Lymphoma_burkitts(Daudi)8.85
Lymphoma_burkitts(Raji)12.9
MedullaOblongata4.15
OccipitalLobe3.95
OlfactoryBulb3.7
Ovary3.1
Pancreas5.35
PancreaticIslet12.9
ParietalLobe4.8
Pituitary5.5
Placenta14.2
Pons4.25
PrefrontalCortex5.7
Prostate7.85
Salivarygland3.6
SkeletalMuscle5.25
Skin3.55
SmoothMuscle31.35
Spinalcord5.05
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.2
TemporalLobe4.1
Testis3.95
TestisGermCell3.8
TestisIntersitial3.8
TestisLeydigCell4.6
TestisSeminiferousTubule3.95
Thalamus4.55
Thymus4.45
Thyroid6
Tongue4.55
Tonsil5.15
Trachea6.45
TrigeminalGanglion4.55
Uterus11.5
UterusCorpus4.15
WholeBlood5.8
Wholebrain3.95
colon4.75
pineal_day5.5
pineal_night5.62
retina5.65
small_intestine4.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14372_PI416261804
  • 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
Amygdala4.01 ± 0.58
Basal Forebrain3.5 ± 0.48
Basal Part of Pons3.58 ± 0.75
Cerebellar Cortex3.31 ± 0.53
Cerebellar Nuclei3.67 ± 0.65
Claustrum4.97 ± 0.75
Epithalamus3.57 ± 0.4
Frontal Lobe3.67 ± 0.64
Globus Pallidus4.67 ± 0.58
Hypothalamus3.58 ± 0.45
Insula3.56 ± 1.02
Limbic Lobe4.06 ± 0.86
Mesencephalon4.08 ± 0.64
Myelencephalon3.9 ± 0.75
Occipital Lobe4.16 ± 0.73
Parietal Lobe3.84 ± 0.97
Pontine Tegmentum3.94 ± 0.69
Striatum4.72 ± 0.74
Subthalamus3.44 ± 0.35
Temporal Lobe3.78 ± 0.69
Thalamus4.19 ± 0.69
White Matter4.19 ± 0.97
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdlim5CBCerebellum3.2
4.35
Pdlim5CTXCerebral cortex1.11
1.48
Pdlim5HIPHippocampal region2.59
2.85
Pdlim5HPFHippocampal formation1.78
1.96
Pdlim5HYHypothalamus1.32
1.87
Pdlim5LSXLateral septal complex1.25
1.35
Pdlim5MBMidbrain0.55
0.99
Pdlim5MYMedulla0.95
1.42
Pdlim5OLFOlfactory bulb1.03
2.47
Pdlim5PPons0.74
1.26
Pdlim5PALPallidum0.27
0.29
Pdlim5RHPRetrohippocampal region0.31
0.6
Pdlim5sAMYStriatum-like amygdalar nuclei0.09
0.1
Pdlim5STRStriatum0.19
0.21
Pdlim5STRdStriatum dorsal region0.06
0.09
Pdlim5STRvStriatum ventral region0.19
0.19
Pdlim5THThalamus2.34
2.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002722 12 72 83 GCTGSLNMTLQR Peptide Atlas
PDLI5_HUMAN_23 12 23 34 DFNMPLTISSLK PRIDE
PDLI5_HUMAN_365 10 365 374 PNQGVPSTGR PRIDE
PDLI5_HUMAN_417 12 417 428 TPMCAHCNQVIR PRIDE

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