PDLIM1 (PDZ and LIM domain 1) - Rat Genome Database

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Gene: PDLIM1 (PDZ and LIM domain 1) Homo sapiens
Analyze
Symbol: PDLIM1
Name: PDZ and LIM domain 1
RGD ID: 68448
HGNC Page HGNC
Description: Exhibits cadherin binding activity involved in cell-cell adhesion. Predicted to be involved in several processes, including actin cytoskeleton organization; fibroblast migration; and maintenance of cell polarity. Localizes to Z disc and stress fiber.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C-terminal LIM domain protein 1; carboxy terminal LIM domain protein 1; carboxyl terminal LIM domain protein 1; CLIM1; CLP-36; CLP36; elfin; enigma; epididymis secretory protein Li 112; hCLIM1; HEL-S-112; LIM domain protein CLP-36; PDZ and LIM domain 1 (elfin); PDZ and LIM domain protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PDLIM1P1   PDLIM1P2   PDLIM1P3   PDLIM1P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1095,237,572 - 95,291,012 (-)EnsemblGRCh38hg38GRCh38
GRCh381095,237,569 - 95,291,006 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371096,997,329 - 97,050,760 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361096,987,319 - 97,040,771 (-)NCBINCBI36hg18NCBI36
Build 341096,987,321 - 97,040,771NCBI
Celera1090,738,487 - 90,791,969 (-)NCBI
Cytogenetic Map10q23.33NCBI
HuRef1090,624,265 - 90,677,751 (-)NCBIHuRef
CHM1_11097,279,094 - 97,332,709 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
adefovir pivoxil  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bleomycin A2  (ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gamma-linolenic acid  (EXP)
ibuprofen  (EXP,ISO)
indometacin  (EXP)
lead diacetate  (ISO)
mercury dibromide  (EXP)
metformin  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
prednisolone  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8522188   PMID:10022510   PMID:10753915   PMID:10861853   PMID:11110697   PMID:11882901   PMID:11973348   PMID:12464179   PMID:12477932   PMID:12665801   PMID:14702039   PMID:15144186  
PMID:15164054   PMID:15489334   PMID:15592455   PMID:16169070   PMID:16189514   PMID:16385451   PMID:16609848   PMID:17213842   PMID:19117995   PMID:21041247   PMID:21423176   PMID:21651830  
PMID:21680739   PMID:21873635   PMID:21900206   PMID:22658674   PMID:22851037   PMID:22863883   PMID:22922308   PMID:22939629   PMID:24662836   PMID:24711643   PMID:25468996   PMID:25662211  
PMID:26119933   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26701804   PMID:26777405   PMID:27068564   PMID:27173435   PMID:27342126   PMID:28298427   PMID:28514442   PMID:28718761  
PMID:29568061   PMID:29676528   PMID:29892012   PMID:30021884   PMID:30585729   PMID:30711629   PMID:30833792   PMID:31091453   PMID:31177093   PMID:31452512   PMID:31515488   PMID:31586073  
PMID:31732153   PMID:31762063   PMID:31796584   PMID:31986893   PMID:33181636  


Genomics

Comparative Map Data
PDLIM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1095,237,572 - 95,291,012 (-)EnsemblGRCh38hg38GRCh38
GRCh381095,237,569 - 95,291,006 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371096,997,329 - 97,050,760 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361096,987,319 - 97,040,771 (-)NCBINCBI36hg18NCBI36
Build 341096,987,321 - 97,040,771NCBI
Celera1090,738,487 - 90,791,969 (-)NCBI
Cytogenetic Map10q23.33NCBI
HuRef1090,624,265 - 90,677,751 (-)NCBIHuRef
CHM1_11097,279,094 - 97,332,709 (-)NCBICHM1_1
Pdlim1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391940,210,683 - 40,260,060 (-)NCBIGRCm39mm39
GRCm39 Ensembl1940,209,617 - 40,260,286 (-)Ensembl
GRCm381940,222,239 - 40,271,616 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1940,221,173 - 40,271,842 (-)EnsemblGRCm38mm10GRCm38
MGSCv371940,296,729 - 40,346,106 (-)NCBIGRCm37mm9NCBIm37
MGSCv361940,275,550 - 40,324,844 (-)NCBImm8
Celera1941,028,383 - 41,076,730 (-)NCBICelera
Cytogenetic Map19C3NCBI
Pdlim1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21239,042,372 - 239,091,074 (-)NCBI
Rnor_6.0 Ensembl1259,308,296 - 259,357,056 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01259,308,326 - 259,357,006 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01266,752,410 - 266,800,840 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41245,350,086 - 245,399,534 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11245,446,644 - 245,496,093 (-)NCBI
Celera1234,889,852 - 234,937,718 (-)NCBICelera
Cytogenetic Map1q54NCBI
Pdlim1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555071,495,925 - 1,523,925 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555071,499,223 - 1,525,924 (-)NCBIChiLan1.0ChiLan1.0
PDLIM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11095,355,669 - 95,389,838 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1095,355,669 - 95,393,871 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01091,848,127 - 91,901,553 (-)NCBIMhudiblu_PPA_v0panPan3
PDLIM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1288,770,882 - 8,817,828 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl288,771,186 - 8,801,354 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha288,947,047 - 8,994,090 (-)NCBI
ROS_Cfam_1.0289,033,997 - 9,079,972 (-)NCBI
UMICH_Zoey_3.1288,749,916 - 8,797,044 (-)NCBI
UNSW_CanFamBas_1.0288,808,695 - 8,855,890 (-)NCBI
UU_Cfam_GSD_1.0288,952,472 - 8,999,504 (-)NCBI
Pdlim1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721338,044,314 - 38,087,612 (+)NCBI
SpeTri2.0NW_0049366364,083,413 - 4,126,728 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDLIM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14106,735,492 - 106,794,777 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114106,744,320 - 106,793,606 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214116,377,059 - 116,426,077 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDLIM1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1988,398,814 - 88,452,660 (-)NCBI
ChlSab1.1 Ensembl988,397,294 - 88,452,610 (-)Ensembl
Pdlim1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247376,485,607 - 6,530,511 (-)NCBI

Position Markers
G44727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371096,997,395 - 96,997,513UniSTSGRCh37
Build 361096,987,385 - 96,987,503RGDNCBI36
Celera1090,738,553 - 90,738,671RGD
Cytogenetic Map10q23.1UniSTS
HuRef1090,624,335 - 90,624,453UniSTS
A002E05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371096,997,367 - 96,997,609UniSTSGRCh37
Build 361096,987,357 - 96,987,599RGDNCBI36
Celera1090,738,525 - 90,738,767RGD
Cytogenetic Map10q23.1UniSTS
HuRef1090,624,307 - 90,624,549UniSTS
GeneMap99-GB4 RH Map10446.81UniSTS
Whitehead-RH Map10536.3UniSTS
NCBI RH Map101042.5UniSTS
D10S181E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q23.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1349
Count of miRNA genes:686
Interacting mature miRNAs:780
Transcripts:ENST00000329399, ENST00000477757, ENST00000490391, ENST00000492511, ENST00000493949
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 22 25 24 1 13 32 1 3 24
Medium 2426 2843 1697 621 1734 463 4318 2139 1352 406 1408 1565 170 1201 2763 4
Low 8 147 28 3 173 2 8 27 2358 12 35 14 3 1 1 2 2
Below cutoff 3 1 14 3 2 20 3 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000329399   ⟹   ENSP00000360305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1095,237,572 - 95,291,003 (-)Ensembl
RefSeq Acc Id: ENST00000477757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1095,238,010 - 95,291,012 (-)Ensembl
RefSeq Acc Id: ENST00000490391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1095,238,634 - 95,247,620 (-)Ensembl
RefSeq Acc Id: ENST00000492511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1095,237,940 - 95,238,848 (-)Ensembl
RefSeq Acc Id: ENST00000493949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1095,263,876 - 95,273,406 (-)Ensembl
RefSeq Acc Id: NM_020992   ⟹   NP_066272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381095,237,572 - 95,291,003 (-)NCBI
GRCh371096,997,325 - 97,050,905 (-)NCBI
Build 361096,987,319 - 97,040,771 (-)NCBI Archive
HuRef1090,624,265 - 90,677,751 (-)NCBI
CHM1_11097,279,094 - 97,332,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540330   ⟹   XP_011538632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381095,237,569 - 95,291,006 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066272   ⟸   NM_020992
- UniProtKB: O00151 (UniProtKB/Swiss-Prot),   V9HW92 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538632   ⟸   XM_011540330
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000360305   ⟸   ENST00000329399
Protein Domains
LIM zinc-binding   PDZ

Promoters
RGD ID:7218247
Promoter ID:EPDNEW_H14869
Type:initiation region
Name:PDLIM1_1
Description:PDZ and LIM domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14870  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381095,291,003 - 95,291,063EPDNEW
RGD ID:6787964
Promoter ID:HG_KWN:10651
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000049512
Position:
Human AssemblyChrPosition (strand)Source
Build 361096,997,359 - 96,997,859 (-)MPROMDB
RGD ID:6787965
Promoter ID:HG_KWN:10652
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000049510
Position:
Human AssemblyChrPosition (strand)Source
Build 361097,023,031 - 97,023,712 (-)MPROMDB
RGD ID:6787981
Promoter ID:HG_KWN:10653
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000049508,   OTTHUMT00000049509,   UC001KKI.1,   UC001KKJ.1,   UC009XUV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361097,040,629 - 97,041,129 (-)MPROMDB
RGD ID:6850520
Promoter ID:EP73051
Type:multiple initiation site
Name:HS_PDLIM1
Description:PDZ and LIM domain 1 (elfin).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361097,040,650 - 97,040,710EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:94872737-95346558)x3 copy number gain See cases [RCV000051183] Chr10:94872737..95346558 [GRCh38]
Chr10:96632494..97106315 [GRCh37]
Chr10:96622484..97096305 [NCBI36]
Chr10:10q23.33-24.1
uncertain significance
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2
pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1 copy number loss See cases [RCV000134773] Chr10:94298267..95267990 [GRCh38]
Chr10:96058024..97027747 [GRCh37]
Chr10:96048014..97017737 [NCBI36]
Chr10:10q23.33
uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3 copy number gain See cases [RCV000137970] Chr10:94401557..95444828 [GRCh38]
Chr10:96161314..97204585 [GRCh37]
Chr10:96151304..97194575 [NCBI36]
Chr10:10q23.33-24.1
uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1
pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3 copy number gain See cases [RCV000142079] Chr10:94376979..95466604 [GRCh38]
Chr10:96136736..97226361 [GRCh37]
Chr10:96126726..97216351 [NCBI36]
Chr10:10q23.33-24.1
uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss PARP Inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1
likely pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:96711444-97306336)x3 copy number gain not provided [RCV000849461] Chr10:96711444..97306336 [GRCh37]
Chr10:10q23.33-24.1
uncertain significance
GRCh37/hg19 10q23.33-24.1(chr10:96140621-97222801)x3 copy number gain not provided [RCV001258459] Chr10:96140621..97222801 [GRCh37]
Chr10:10q23.33-24.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2067 AgrOrtholog
COSMIC PDLIM1 COSMIC
Ensembl Genes ENSG00000107438 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000360305 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329399 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107438 GTEx
HGNC ID HGNC:2067 ENTREZGENE
Human Proteome Map PDLIM1 Human Proteome Map
InterPro DUF4749 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDLIM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zasp-like_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9124 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9124 ENTREZGENE
OMIM 605900 OMIM
PANTHER PTHR24214:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4749 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33158 PharmGKB
PROSITE LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O00151 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HW92 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RBS6 UniProtKB/Swiss-Prot
  Q5VZH5 UniProtKB/Swiss-Prot
  Q9BPZ9 UniProtKB/Swiss-Prot