PLD4 (phospholipase D family member 4) - Rat Genome Database

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Gene: PLD4 (phospholipase D family member 4) Homo sapiens
Analyze
Symbol: PLD4
Name: phospholipase D family member 4
RGD ID: 1347934
HGNC Page HGNC:23792
Description: Predicted to enable single-stranded DNA 5'-3' DNA exonuclease activity. Predicted to be involved in hematopoietic progenitor cell differentiation; phagocytosis; and regulation of cytokine production involved in inflammatory response. Predicted to act upstream of or within establishment of localization in cell. Predicted to be located in early endosome and endoplasmic reticulum membrane. Predicted to be active in several cellular components, including endoplasmic reticulum; phagocytic vesicle; and trans-Golgi network membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 5'-3' exonuclease PLD4; C14orf175; choline phosphatase 4; chromosome 14 open reading frame 175; phosphatidylcholine-hydrolyzing phospholipase D4; phospholipase D family, member 4; phospholipase D4; PLD 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,924,879 - 104,937,785 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,924,713 - 104,937,761 (+)EnsemblGRCh38hg38GRCh38
GRCh3714105,391,216 - 105,404,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,462,232 - 104,470,618 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414104,462,268 - 104,470,618NCBI
Celera1485,445,332 - 85,453,718 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,585,008 - 85,593,394 (+)NCBIHuRef
CHM1_114105,328,651 - 105,337,037 (+)NCBICHM1_1
T2T-CHM13v2.01499,170,773 - 99,184,262 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency. Wang K, etal., Hum Genomics. 2017 Mar 16;11(1):4. doi: 10.1186/s40246-017-0101-y.
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15489334   PMID:16094384   PMID:21873635   PMID:22446963   PMID:23124809   PMID:24390342   PMID:27840999   PMID:30679154   PMID:33001583   PMID:35007762  
PMID:37433992   PMID:37840148  


Genomics

Comparative Map Data
PLD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,924,879 - 104,937,785 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,924,713 - 104,937,761 (+)EnsemblGRCh38hg38GRCh38
GRCh3714105,391,216 - 105,404,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,462,232 - 104,470,618 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414104,462,268 - 104,470,618NCBI
Celera1485,445,332 - 85,453,718 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,585,008 - 85,593,394 (+)NCBIHuRef
CHM1_114105,328,651 - 105,337,037 (+)NCBICHM1_1
T2T-CHM13v2.01499,170,773 - 99,184,262 (+)NCBIT2T-CHM13v2.0
Pld4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912112,727,089 - 112,735,420 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12112,727,089 - 112,735,424 (+)EnsemblGRCm39 Ensembl
GRCm3812112,760,446 - 112,768,986 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12112,760,655 - 112,768,990 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712113,998,866 - 114,007,197 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612113,208,463 - 113,216,794 (+)NCBIMGSCv36mm8
Celera12113,976,446 - 113,984,774 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.2NCBI
Pld4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86137,639,948 - 137,647,462 (+)NCBIGRCr8
mRatBN7.26131,818,860 - 131,827,457 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6131,818,860 - 131,826,376 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6131,988,310 - 131,995,820 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06132,284,650 - 132,292,162 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06131,648,754 - 131,656,147 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06137,323,713 - 137,331,231 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6137,323,713 - 137,331,231 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06146,329,774 - 146,337,292 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46137,744,704 - 137,752,222 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera6129,364,890 - 129,372,215 (+)NCBICelera
Cytogenetic Map6q32NCBI
Pld4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555383,295,937 - 3,303,802 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555383,296,581 - 3,303,187 (+)NCBIChiLan1.0ChiLan1.0
PLD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215106,109,666 - 106,117,996 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114105,326,170 - 105,334,498 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01485,574,724 - 85,587,176 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114105,360,584 - 105,368,931 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14105,360,584 - 105,369,247 (+)Ensemblpanpan1.1panPan2
PLD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1872,410,076 - 72,417,681 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl872,416,637 - 72,417,384 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha871,914,155 - 71,921,625 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0872,684,030 - 72,691,525 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl872,683,944 - 72,691,525 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1872,367,136 - 72,374,542 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0872,410,391 - 72,417,878 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0872,809,787 - 72,817,292 (+)NCBIUU_Cfam_GSD_1.0
Pld4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086401,686,753 - 1,694,420 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936621515,636 - 523,359 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936621515,710 - 523,317 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.27131,340,866 - 131,347,958 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12482,848,775 - 82,857,359 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2482,851,238 - 82,857,579 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605370,274,769 - 70,283,752 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pld4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624734431,956 - 438,170 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624734432,069 - 439,078 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLD4
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_138790.2(PLD4):c.724G>A (p.Glu242Lys) single nucleotide variant Malignant melanoma [RCV000062711] Chr14:104930748 [GRCh38]
Chr14:105397085 [GRCh37]
Chr14:104468130 [NCBI36]
Chr14:14q32.33		 not provided
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 copy number loss See cases [RCV000135781] Chr14:104622881..106678844 [GRCh38]
Chr14:105017236..107134861 [GRCh37]
Chr14:104088281..106205906 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3 copy number gain See cases [RCV000139617] Chr14:104872858..105605042 [GRCh38]
Chr14:105339195..105803170 [GRCh37]
Chr14:104410240..105239471 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 copy number loss See cases [RCV000142333] Chr14:104051258..106877229 [GRCh38]
Chr14:104517595..107285437 [GRCh37]
Chr14:103587348..106356482 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 copy number loss See cases [RCV000142803] Chr14:103823600..106879298 [GRCh38]
Chr14:104289937..107287505 [GRCh37]
Chr14:103359690..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1 copy number loss See cases [RCV000239801] Chr14:105393054..105996538 [GRCh37]
Chr14:14q32.33		 uncertain significance
chr14:104643721..105932775 complex variant complex Breast ductal adenocarcinoma [RCV000207189] Chr14:104643721..105932775 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:105259639-105523673)x1 copy number loss See cases [RCV000240549] Chr14:105259639..105523673 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1 copy number loss See cases [RCV000511076] Chr14:104915608..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_138790.5(PLD4):c.418T>C (p.Trp140Arg) single nucleotide variant not specified [RCV004322031] Chr14:104928882 [GRCh38]
Chr14:105395219 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.956G>T (p.Arg319Leu) single nucleotide variant not specified [RCV004312056] Chr14:104931785 [GRCh38]
Chr14:105398122 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105080065-106067618)x1 copy number loss not provided [RCV000738611] Chr14:105080065..106067618 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105236732-105399263)x3 copy number gain not provided [RCV000738614] Chr14:105236732..105399263 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105371862-105576694)x3 copy number gain not provided [RCV000751144] Chr14:105371862..105576694 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_138790.5(PLD4):c.468+4C>T single nucleotide variant not provided [RCV000971303] Chr14:104928936 [GRCh38]
Chr14:105395273 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_138790.5(PLD4):c.500T>C (p.Leu167Pro) single nucleotide variant not specified [RCV004298003] Chr14:104929338 [GRCh38]
Chr14:105395675 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33		 likely pathogenic
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1 copy number loss not provided [RCV000848291] Chr14:105067651..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1 copy number loss not provided [RCV001006660] Chr14:105303584..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1 copy number loss not provided [RCV001006659] Chr14:104764078..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_138790.5(PLD4):c.529G>A (p.Ala177Thr) single nucleotide variant not specified [RCV004302308] Chr14:104929367 [GRCh38]
Chr14:105395704 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1221C>G (p.Asp407Glu) single nucleotide variant not specified [RCV004303129] Chr14:104932174 [GRCh38]
Chr14:105398511 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NC_000014.9:g.(?_104677659)_(104957672_?)del deletion not provided [RCV001032275] Chr14:105143996..105424009 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3 copy number gain not provided [RCV001259802] Chr14:105204147..105543486 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_105167703)_(105861009_?)del deletion Focal segmental glomerulosclerosis 5 [RCV003111501] Chr14:105167703..105861009 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_138790.5(PLD4):c.977C>T (p.Ala326Val) single nucleotide variant not specified [RCV004330657] Chr14:104931806 [GRCh38]
Chr14:105398143 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1452C>G (p.Asp484Glu) single nucleotide variant not specified [RCV004164182] Chr14:104932895 [GRCh38]
Chr14:105399232 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1102G>C (p.Gly368Arg) single nucleotide variant not specified [RCV004181078] Chr14:104932055 [GRCh38]
Chr14:105398392 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.445G>A (p.Val149Ile) single nucleotide variant not specified [RCV004122593] Chr14:104928909 [GRCh38]
Chr14:105395246 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.554G>A (p.Arg185Lys) single nucleotide variant not specified [RCV004209415] Chr14:104929392 [GRCh38]
Chr14:105395729 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.704G>A (p.Arg235Gln) single nucleotide variant not specified [RCV004207595] Chr14:104930092 [GRCh38]
Chr14:105396429 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.478C>G (p.Leu160Val) single nucleotide variant not specified [RCV004112317] Chr14:104929316 [GRCh38]
Chr14:105395653 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1034C>T (p.Thr345Ile) single nucleotide variant not specified [RCV004204771] Chr14:104931863 [GRCh38]
Chr14:105398200 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1490C>T (p.Ala497Val) single nucleotide variant not specified [RCV004184774] Chr14:104932933 [GRCh38]
Chr14:105399270 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.455C>G (p.Ser152Trp) single nucleotide variant not specified [RCV004191949] Chr14:104928919 [GRCh38]
Chr14:105395256 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1366G>A (p.Val456Met) single nucleotide variant not specified [RCV004214848] Chr14:104932809 [GRCh38]
Chr14:105399146 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.619C>T (p.Arg207Trp) single nucleotide variant not specified [RCV004153356] Chr14:104930007 [GRCh38]
Chr14:105396344 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.643T>G (p.Ser215Ala) single nucleotide variant not specified [RCV004254157] Chr14:104930031 [GRCh38]
Chr14:105396368 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.253G>A (p.Ala85Thr) single nucleotide variant not specified [RCV004279014] Chr14:104927835 [GRCh38]
Chr14:105394172 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1244T>G (p.Val415Gly) single nucleotide variant not specified [RCV004260637] Chr14:104932278 [GRCh38]
Chr14:105398615 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.542C>T (p.Pro181Leu) single nucleotide variant not specified [RCV004261274] Chr14:104929380 [GRCh38]
Chr14:105395717 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1448G>C (p.Arg483Pro) single nucleotide variant not specified [RCV004279317] Chr14:104932891 [GRCh38]
Chr14:105399228 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.490C>A (p.Leu164Met) single nucleotide variant not specified [RCV004257449] Chr14:104929328 [GRCh38]
Chr14:105395665 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1364G>A (p.Gly455Glu) single nucleotide variant not specified [RCV004328254] Chr14:104932807 [GRCh38]
Chr14:105399144 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_138790.5(PLD4):c.941C>T (p.Pro314Leu) single nucleotide variant not specified [RCV004342571] Chr14:104931770 [GRCh38]
Chr14:105398107 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1181T>C (p.Leu394Pro) single nucleotide variant not specified [RCV004346773] Chr14:104932134 [GRCh38]
Chr14:105398471 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1012T>A (p.Ser338Thr) single nucleotide variant not specified [RCV004360647] Chr14:104931841 [GRCh38]
Chr14:105398178 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.474G>C (p.Glu158Asp) single nucleotide variant not specified [RCV004338612] Chr14:104929312 [GRCh38]
Chr14:105395649 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.863G>A (p.Arg288His) single nucleotide variant not specified [RCV004339782] Chr14:104930887 [GRCh38]
Chr14:105397224 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1040G>C (p.Arg347Pro) single nucleotide variant not specified [RCV004343911] Chr14:104931869 [GRCh38]
Chr14:105398206 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3 copy number gain not provided [RCV003485055] Chr14:105122914..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_138790.5(PLD4):c.1029C>A (p.Phe343Leu) single nucleotide variant not specified [RCV004514004] Chr14:104931858 [GRCh38]
Chr14:105398195 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.133G>A (p.Val45Met) single nucleotide variant not specified [RCV004514010] Chr14:104927715 [GRCh38]
Chr14:105394052 [GRCh37]
Chr14:14q32.33		 likely benign
NM_138790.5(PLD4):c.166C>G (p.Arg56Gly) single nucleotide variant not specified [RCV004514011] Chr14:104927748 [GRCh38]
Chr14:105394085 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.496C>A (p.Gln166Lys) single nucleotide variant not specified [RCV004514012] Chr14:104929334 [GRCh38]
Chr14:105395671 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.583G>A (p.Ala195Thr) single nucleotide variant not specified [RCV004514014] Chr14:104929421 [GRCh38]
Chr14:105395758 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.947G>A (p.Gly316Asp) single nucleotide variant not specified [RCV004514018] Chr14:104931776 [GRCh38]
Chr14:105398113 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1247G>A (p.Gly416Glu) single nucleotide variant not specified [RCV004514009] Chr14:104932281 [GRCh38]
Chr14:105398618 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.107C>T (p.Ala36Val) single nucleotide variant not specified [RCV004514006] Chr14:104927689 [GRCh38]
Chr14:105394026 [GRCh37]
Chr14:14q32.33		 likely benign
NM_138790.5(PLD4):c.620G>T (p.Arg207Leu) single nucleotide variant not specified [RCV004514015] Chr14:104930008 [GRCh38]
Chr14:105396345 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.687T>G (p.Ser229Arg) single nucleotide variant not specified [RCV004514016] Chr14:104930075 [GRCh38]
Chr14:105396412 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.945G>C (p.Gln315His) single nucleotide variant not specified [RCV004514017] Chr14:104931774 [GRCh38]
Chr14:105398111 [GRCh37]
Chr14:14q32.33		 likely benign
NM_138790.5(PLD4):c.565G>A (p.Asp189Asn) single nucleotide variant not specified [RCV004514013] Chr14:104929403 [GRCh38]
Chr14:105395740 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1054C>A (p.Pro352Thr) single nucleotide variant not specified [RCV004514005] Chr14:104931883 [GRCh38]
Chr14:105398220 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.1204G>A (p.Ala402Thr) single nucleotide variant not specified [RCV004514007] Chr14:104932157 [GRCh38]
Chr14:105398494 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_138790.5(PLD4):c.920C>A (p.Ala307Glu) single nucleotide variant not specified [RCV004662062] Chr14:104931749 [GRCh38]
Chr14:105398086 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.667C>T (p.Arg223Trp) single nucleotide variant not specified [RCV004662060] Chr14:104930055 [GRCh38]
Chr14:105396392 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.691A>C (p.Asn231His) single nucleotide variant not specified [RCV004662061] Chr14:104930079 [GRCh38]
Chr14:105396416 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_138790.5(PLD4):c.878A>G (p.His293Arg) single nucleotide variant not specified [RCV004651193] Chr14:104930902 [GRCh38]
Chr14:105397239 [GRCh37]
Chr14:14q32.33		 likely benign
NM_138790.5(PLD4):c.97G>A (p.Val33Ile) single nucleotide variant not specified [RCV004651194] Chr14:104927679 [GRCh38]
Chr14:105394016 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.895G>T (p.Val299Leu) single nucleotide variant not specified [RCV004651195] Chr14:104930919 [GRCh38]
Chr14:105397256 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_138790.5(PLD4):c.802G>A (p.Gly268Arg) single nucleotide variant not specified [RCV004651196] Chr14:104930826 [GRCh38]
Chr14:105397163 [GRCh37]
Chr14:14q32.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2114
Count of miRNA genes:695
Interacting mature miRNAs:808
Transcripts:ENST00000392593, ENST00000472702, ENST00000472901, ENST00000540372, ENST00000553861, ENST00000557573
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406961920GWAS610896_Hrheumatoid arthritis QTL GWAS610896 (human)5e-08rheumatoid arthritis14104926500104926501Human
406962633GWAS611609_Hrheumatoid arthritis QTL GWAS611609 (human)0.0000003rheumatoid arthritis14104926500104926501Human
407075945GWAS724921_Hrheumatoid arthritis QTL GWAS724921 (human)0.000007rheumatoid arthritis14104926500104926501Human
407077740GWAS726716_Hrheumatoid arthritis QTL GWAS726716 (human)0.000004rheumatoid arthritis14104926500104926501Human

Markers in Region
MARC_16895-16896:1020711008:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,396,366 - 105,397,145UniSTSGRCh37
Build 3614104,467,411 - 104,468,190RGDNCBI36
Celera1485,450,511 - 85,451,290RGD
HuRef1485,590,187 - 85,590,966UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1189 2348 2656 2212 4764 1674 2217 3 583 1884 421 2084 6932 6328 34 3700 1 832 1712 1526 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK295352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW104909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC328186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000392593   ⟹   ENSP00000376372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,924,879 - 104,933,236 (+)Ensembl
Ensembl Acc Id: ENST00000472702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,930,621 - 104,932,177 (+)Ensembl
Ensembl Acc Id: ENST00000472901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,924,880 - 104,929,044 (+)Ensembl
Ensembl Acc Id: ENST00000540372   ⟹   ENSP00000438677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,924,816 - 104,933,237 (+)Ensembl
Ensembl Acc Id: ENST00000553861   ⟹   ENSP00000451636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,932,160 - 104,933,235 (+)Ensembl
Ensembl Acc Id: ENST00000557573   ⟹   ENSP00000451278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,924,879 - 104,930,801 (+)Ensembl
Ensembl Acc Id: ENST00000649344   ⟹   ENSP00000497627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,924,713 - 104,937,761 (+)Ensembl
RefSeq Acc Id: NM_001308174   ⟹   NP_001295103
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,924,879 - 104,937,785 (+)NCBI
CHM1_114105,328,617 - 105,337,037 (+)NCBI
T2T-CHM13v2.01499,170,773 - 99,184,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138790   ⟹   NP_620145
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,924,879 - 104,933,236 (+)NCBI
GRCh3714105,391,153 - 105,399,573 (+)NCBI
Build 3614104,462,232 - 104,470,618 (+)NCBI Archive
Celera1485,445,332 - 85,453,718 (+)RGD
HuRef1485,585,008 - 85,593,394 (+)RGD
CHM1_114105,328,617 - 105,337,037 (+)NCBI
T2T-CHM13v2.01499,170,773 - 99,179,130 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536411   ⟹   XP_011534713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,924,879 - 104,937,785 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054375347   ⟹   XP_054231322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,170,773 - 99,184,262 (+)NCBI
RefSeq Acc Id: NP_620145   ⟸   NM_138790
- Peptide Label: isoform 2
- UniProtKB: Q96BZ4 (UniProtKB/Swiss-Prot),   Q6UWD2 (UniProtKB/Swiss-Prot),   B4DI07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534713   ⟸   XM_011536411
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IT68 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295103   ⟸   NM_001308174
- Peptide Label: isoform 1
- UniProtKB: B4DJQ6 (UniProtKB/TrEMBL),   F5H2B5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497627   ⟸   ENST00000649344
Ensembl Acc Id: ENSP00000451278   ⟸   ENST00000557573
Ensembl Acc Id: ENSP00000376372   ⟸   ENST00000392593
Ensembl Acc Id: ENSP00000451636   ⟸   ENST00000553861
Ensembl Acc Id: ENSP00000438677   ⟸   ENST00000540372
RefSeq Acc Id: XP_054231322   ⟸   XM_054375347
- Peptide Label: isoform X1
Protein Domains
PLD phosphodiesterase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96BZ4-F1-model_v2 AlphaFold Q96BZ4 1-506 view protein structure

Promoters
RGD ID:6791793
Promoter ID:HG_KWN:20387
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000291348,   OTTHUMT00000291349
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,462,044 - 104,462,544 (+)MPROMDB
RGD ID:6791794
Promoter ID:HG_KWN:20388
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000291350
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,468,246 - 104,468,746 (+)MPROMDB
RGD ID:7228769
Promoter ID:EPDNEW_H20130
Type:initiation region
Name:PLD4_1
Description:phospholipase D family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,924,879 - 104,924,939EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23792 AgrOrtholog
COSMIC PLD4 COSMIC
Ensembl Genes ENSG00000166428 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392593 ENTREZGENE
  ENST00000392593.9 UniProtKB/Swiss-Prot
  ENST00000540372 ENTREZGENE
  ENST00000540372.5 UniProtKB/TrEMBL
  ENST00000553861.1 UniProtKB/TrEMBL
  ENST00000557573.1 UniProtKB/TrEMBL
  ENST00000649344 ENTREZGENE
  ENST00000649344.1 UniProtKB/TrEMBL
Gene3D-CATH Endonuclease Chain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166428 GTEx
HGNC ID HGNC:23792 ENTREZGENE
Human Proteome Map PLD4 Human Proteome Map
InterPro Diverse_PLD-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLD-like_dom UniProtKB/TrEMBL
  PLDc_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_D/transphosphatidylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:122618 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene PLD4 ENTREZGENE
OMIM 618488 OMIM
PANTHER 5'-3' EXONUCLEASE PLD4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHOLIPASE D - RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PLDc_2 UniProtKB/TrEMBL
  PLDc_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134861676 PharmGKB
PROSITE PLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PLDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Phospholipase D/nuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IT68 ENTREZGENE, UniProtKB/TrEMBL
  B4DI07 ENTREZGENE, UniProtKB/TrEMBL
  B4DJQ6 ENTREZGENE, UniProtKB/TrEMBL
  F5H2B5 ENTREZGENE, UniProtKB/TrEMBL
  G3V3J8_HUMAN UniProtKB/TrEMBL
  G3V472_HUMAN UniProtKB/TrEMBL
  PLD4_HUMAN UniProtKB/Swiss-Prot
  Q6UWD2 ENTREZGENE
  Q96BZ4 ENTREZGENE
UniProt Secondary Q6UWD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLD4  phospholipase D family member 4    phospholipase D family, member 4  Symbol and/or name change 5135510 APPROVED