PLD5 (phospholipase D family member 5) - Rat Genome Database

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Gene: PLD5 (phospholipase D family member 5) Homo sapiens
Analyze
Symbol: PLD5
Name: phospholipase D family member 5
RGD ID: 1603543
HGNC Page HGNC:26879
Description: Predicted to enable catalytic activity. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ40773; inactive choline phosphatase 5; inactive phosphatidylcholine-hydrolyzing phospholipase D5; inactive phospholipase D5; inactive PLD 5; MGC120565; MGC120566; MGC120567; phospholipase D family, member 5; PLDC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PLD5P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381242,082,986 - 242,530,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1242,082,986 - 242,524,697 (-)EnsemblGRCh38hg38GRCh38
GRCh371242,246,288 - 242,687,999 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361240,318,895 - 240,754,621 (-)NCBINCBI36Build 36hg18NCBI36
Celera1215,507,475 - 215,943,236 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,919,621 - 213,122,645 (-)NCBIHuRef
HuRef1212,711,210 - 212,853,533 (-)NCBIHuRef
CHM1_11243,524,434 - 243,960,008 (-)NCBICHM1_1
T2T-CHM13v2.01241,495,068 - 241,942,534 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:19626040   PMID:20379614   PMID:20663923   PMID:23251661   PMID:23382691   PMID:23870195   PMID:24057671   PMID:24483146   PMID:29987050   PMID:33961781  
PMID:34238129   PMID:35007762  


Genomics

Comparative Map Data
PLD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381242,082,986 - 242,530,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1242,082,986 - 242,524,697 (-)EnsemblGRCh38hg38GRCh38
GRCh371242,246,288 - 242,687,999 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361240,318,895 - 240,754,621 (-)NCBINCBI36Build 36hg18NCBI36
Celera1215,507,475 - 215,943,236 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,919,621 - 213,122,645 (-)NCBIHuRef
HuRef1212,711,210 - 212,853,533 (-)NCBIHuRef
CHM1_11243,524,434 - 243,960,008 (-)NCBICHM1_1
T2T-CHM13v2.01241,495,068 - 241,942,534 (-)NCBIT2T-CHM13v2.0
Pld5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,789,867 - 176,109,078 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,789,872 - 176,102,878 (-)EnsemblGRCm39 Ensembl
GRCm381175,962,301 - 176,281,512 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,962,306 - 176,275,312 (-)EnsemblGRCm38mm10GRCm38
MGSCv371177,892,437 - 178,205,443 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,798,981 - 178,112,280 (-)NCBIMGSCv36mm8
Celera1183,041,914 - 183,365,812 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map181.9NCBI
Pld5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81390,426,689 - 90,765,072 (-)NCBIGRCr8
mRatBN7.21387,895,694 - 88,232,868 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1387,896,369 - 88,232,868 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1390,384,330 - 90,737,885 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01391,784,609 - 92,138,157 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01388,966,952 - 89,321,111 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01394,025,696 - 94,355,219 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1394,025,369 - 94,355,219 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01398,486,317 - 98,812,030 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,715,000 - 92,058,036 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1387,485,947 - 87,815,991 (-)NCBICelera
Cytogenetic Map13q24NCBI
Pld5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554065,816,926 - 6,138,579 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554065,810,286 - 5,994,601 (-)NCBIChiLan1.0ChiLan1.0
PLD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v216,622,753 - 7,069,206 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116,845,185 - 7,291,289 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01217,640,005 - 218,081,158 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11222,624,198 - 222,798,210 (-)NCBIpanpan1.1PanPan1.1panPan2
PLD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1733,422,964 - 33,836,252 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl733,429,409 - 33,836,258 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha732,901,116 - 33,309,816 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0733,249,160 - 33,659,927 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl733,253,065 - 33,659,964 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1733,086,377 - 33,499,628 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0733,106,517 - 33,517,045 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0733,360,227 - 33,774,810 (-)NCBIUU_Cfam_GSD_1.0
Pld5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934446,305,137 - 46,692,149 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365268,055,339 - 8,441,030 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365268,055,190 - 8,447,854 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1015,420,608 - 15,723,479 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11015,420,600 - 15,723,890 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21017,750,621 - 17,841,790 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLD5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12579,164,501 - 79,584,632 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2579,171,369 - 79,519,763 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605581,338,470 - 81,758,441 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pld5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477116,745,555 - 17,102,752 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477116,745,575 - 17,109,614 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLD5
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 copy number loss See cases [RCV000054027] Chr1:241676908..245647727 [GRCh38]
Chr1:241840210..245811029 [GRCh37]
Chr1:239906833..243877652 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1 copy number loss See cases [RCV000054030] Chr1:242240797..245200164 [GRCh38]
Chr1:242404099..245363466 [GRCh37]
Chr1:240470722..243430089 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1 copy number loss See cases [RCV000054031] Chr1:242410569..245413313 [GRCh38]
Chr1:242573871..245576615 [GRCh37]
Chr1:240640494..243643238 [NCBI36]
Chr1:1q43-44
pathogenic
NM_001195811.1(PLD5):c.860C>T (p.Pro287Leu) single nucleotide variant Malignant melanoma [RCV000064614] Chr1:242113914 [GRCh38]
Chr1:242277216 [GRCh37]
Chr1:240343839 [NCBI36]
Chr1:1q43
not provided
NM_001195811.1(PLD5):c.59T>C (p.Val20Ala) single nucleotide variant Malignant melanoma [RCV000064615] Chr1:242348187 [GRCh38]
Chr1:242511489 [GRCh37]
Chr1:240578112 [NCBI36]
Chr1:1q43
not provided
NM_001195811.1(PLD5):c.1168+1885C>G single nucleotide variant Lung cancer [RCV000097486] Chr1:242098783 [GRCh38]
Chr1:242262085 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.1168+4234A>T single nucleotide variant Lung cancer [RCV000090710] Chr1:242096434 [GRCh38]
Chr1:242259736 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.549+8062A>G single nucleotide variant Lung cancer [RCV000090711] Chr1:242211926 [GRCh38]
Chr1:242375228 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.422-2158A>G single nucleotide variant Lung cancer [RCV000090712] Chr1:242222273 [GRCh38]
Chr1:242385575 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.422-8793G>A single nucleotide variant Lung cancer [RCV000090713] Chr1:242228908 [GRCh38]
Chr1:242392210 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.421+11093A>T single nucleotide variant Lung cancer [RCV000090714] Chr1:242254244 [GRCh38]
Chr1:242417546 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.141-7040G>A single nucleotide variant Lung cancer [RCV000090715] Chr1:242295570 [GRCh38]
Chr1:242458872 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.141-27698G>A single nucleotide variant Lung cancer [RCV000090716] Chr1:242316228 [GRCh38]
Chr1:242479530 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.4-32335G>C single nucleotide variant Lung cancer [RCV000090717] Chr1:242380577 [GRCh38]
Chr1:242543879 [GRCh37]
Chr1:1q43
uncertain significance
NM_001195811.1(PLD5):c.3+42092G>A single nucleotide variant Lung cancer [RCV000090718] Chr1:242407262 [GRCh38]
Chr1:242570564 [GRCh37]
Chr1:1q43
uncertain significance
NM_152666.2(PLD5):c.189+55905C>A single nucleotide variant Lung cancer [RCV000090719] Chr1:242468183 [GRCh38]
Chr1:242631485 [GRCh37]
Chr1:1q43
uncertain significance
NM_152666.2(PLD5):c.189+11105G>T single nucleotide variant Lung cancer [RCV000090720] Chr1:242512983 [GRCh38]
Chr1:242676285 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 copy number gain See cases [RCV000136503] Chr1:241625115..245453782 [GRCh38]
Chr1:241788417..245617084 [GRCh37]
Chr1:239855040..243683707 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:242166764-242957825)x1 copy number loss See cases [RCV000137549] Chr1:242166764..242957825 [GRCh38]
Chr1:242330066..243121127 [GRCh37]
Chr1:240396689..241187750 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:242166764-243027799)x3 copy number gain See cases [RCV000137712] Chr1:242166764..243027799 [GRCh38]
Chr1:242330066..243191101 [GRCh37]
Chr1:240396689..241257724 [NCBI36]
Chr1:1q43
likely benign
GRCh38/hg38 1q43(chr1:242475494-243242152)x3 copy number gain See cases [RCV000137477] Chr1:242475494..243242152 [GRCh38]
Chr1:242638796..243405454 [GRCh37]
Chr1:240705419..241472077 [NCBI36]
Chr1:1q43
likely benign
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3 copy number gain See cases [RCV000138233] Chr1:241967139..245542967 [GRCh38]
Chr1:242130441..245706269 [GRCh37]
Chr1:240197064..243772892 [NCBI36]
Chr1:1q43-44
likely pathogenic
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:242137482-242278796)x1 copy number loss See cases [RCV000141292] Chr1:242137482..242278796 [GRCh38]
Chr1:242300784..242442098 [GRCh37]
Chr1:240367407..240508721 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q43(chr1:241820063-242545979)x1 copy number loss See cases [RCV000143732] Chr1:241820063..242545979 [GRCh38]
Chr1:241983365..242709281 [GRCh37]
Chr1:240049988..240775904 [NCBI36]
Chr1:1q43
uncertain significance
Single allele deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV000235042] Chr1:242100310..244396371 [GRCh38]
Chr1:242263612..244559673 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:242366167-242391262)x1 copy number loss Premature ovarian failure [RCV000225142] Chr1:242366167..242391262 [GRCh38]
Chr1:242529469..242554564 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1 copy number loss See cases [RCV000240515] Chr1:242357208..246378823 [GRCh37]
Chr1:1q43-44
pathogenic
NC_000001.11:g.(?_242268256)_(243843190_?)del deletion Senior-Loken syndrome 7 [RCV000817924] Chr1:242268256..243843190 [GRCh38]
Chr1:242431558..244006492 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q43(chr1:242401835-243027981)x1 copy number loss See cases [RCV000511989] Chr1:242401835..243027981 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43(chr1:242313939-242329814)x1 copy number loss not provided [RCV000749415] Chr1:242313939..242329814 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1 copy number loss not provided [RCV001005203] Chr1:242483182..245087048 [GRCh37]
Chr1:1q43-44
pathogenic
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43-44(chr1:242150334-246518362) copy number loss not provided [RCV000767623] Chr1:242150334..246518362 [GRCh37]
Chr1:1q43-44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43(chr1:242292690-243094146)x4 copy number gain See cases [RCV000790608] Chr1:242292690..243094146 [GRCh37]
Chr1:1q43
likely benign
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43(chr1:242403224-242512725)x1 copy number loss not provided [RCV002472696] Chr1:242403224..242512725 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q43(chr1:242200571-242466974)x1 copy number loss not provided [RCV001005202] Chr1:242200571..242466974 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain Autism [RCV002284315] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain not provided [RCV001829254] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_242431558)_(245027609_?)del deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001956278] Chr1:242431558..245027609 [GRCh37]
Chr1:1q43-44
pathogenic
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001992552] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44
uncertain significance
NC_000001.10:g.(?_241661128)_(244218672_?)del deletion not provided [RCV003114057] Chr1:241661128..244218672 [GRCh37]
Chr1:1q43-44
uncertain significance
NM_001372062.1(PLD5):c.45G>C (p.Glu15Asp) single nucleotide variant Inborn genetic diseases [RCV003276211] Chr1:242524232 [GRCh38]
Chr1:242687534 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242619665-244705582)x4 copy number gain not provided [RCV002474775] Chr1:242619665..244705582 [GRCh37]
Chr1:1q43-44
uncertain significance
Single allele deletion Developmental and epileptic encephalopathy, 54 [RCV002481171] Chr1:242045197..249212668 [GRCh37]
Chr1:1q43-44
likely pathogenic
NM_001372062.1(PLD5):c.1606G>A (p.Val536Ile) single nucleotide variant Inborn genetic diseases [RCV002946335] Chr1:242089859 [GRCh38]
Chr1:242253161 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:242534486-242646475)x1 copy number loss not provided [RCV002475737] Chr1:242534486..242646475 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_001372062.1(PLD5):c.1579G>A (p.Asp527Asn) single nucleotide variant Inborn genetic diseases [RCV002691995] Chr1:242089886 [GRCh38]
Chr1:242253188 [GRCh37]
Chr1:1q43
likely benign
NM_001372062.1(PLD5):c.1103G>A (p.Arg368Lys) single nucleotide variant Inborn genetic diseases [RCV002911723] Chr1:242107807 [GRCh38]
Chr1:242271109 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.637G>A (p.Ala213Thr) single nucleotide variant Inborn genetic diseases [RCV002951018] Chr1:242220086 [GRCh38]
Chr1:242383388 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.1436A>G (p.Asn479Ser) single nucleotide variant Inborn genetic diseases [RCV002884371] Chr1:242090029 [GRCh38]
Chr1:242253331 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.1442G>A (p.Ser481Asn) single nucleotide variant Inborn genetic diseases [RCV002827316] Chr1:242090023 [GRCh38]
Chr1:242253325 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.1009A>G (p.Lys337Glu) single nucleotide variant Inborn genetic diseases [RCV002985193] Chr1:242113951 [GRCh38]
Chr1:242277253 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43
not provided
NM_001372062.1(PLD5):c.227G>T (p.Cys76Phe) single nucleotide variant Inborn genetic diseases [RCV002825968] Chr1:242348205 [GRCh38]
Chr1:242511507 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.434A>G (p.Lys145Arg) single nucleotide variant Inborn genetic diseases [RCV002836152] Chr1:242288423 [GRCh38]
Chr1:242451725 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.1136G>A (p.Arg379Gln) single nucleotide variant Inborn genetic diseases [RCV002718596] Chr1:242107774 [GRCh38]
Chr1:242271076 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.73C>T (p.Arg25Cys) single nucleotide variant Inborn genetic diseases [RCV002679019] Chr1:242524204 [GRCh38]
Chr1:242687506 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.280G>A (p.Glu94Lys) single nucleotide variant Inborn genetic diseases [RCV003199639] Chr1:242348152 [GRCh38]
Chr1:242511454 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327716] Chr1:242164274..245299473 [GRCh38]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333898] Chr1:242520315..246857912 [GRCh38]
Chr1:1q43-44
pathogenic
NM_001372062.1(PLD5):c.1030G>C (p.Val344Leu) single nucleotide variant Inborn genetic diseases [RCV003365057] Chr1:242113930 [GRCh38]
Chr1:242277232 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43(chr1:241953098-242505759)x1 copy number loss not provided [RCV003484133] Chr1:241953098..242505759 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:241815787-242287967)x3 copy number gain not provided [RCV003417176] Chr1:241815787..242287967 [GRCh37]
Chr1:1q43
uncertain significance
NM_001372062.1(PLD5):c.220C>T (p.Leu74=) single nucleotide variant not provided [RCV003415083] Chr1:242348212 [GRCh38]
Chr1:242511514 [GRCh37]
Chr1:1q43
likely benign
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4655
Count of miRNA genes:1172
Interacting mature miRNAs:1462
Transcripts:ENST00000314833, ENST00000366545, ENST00000427495, ENST00000442594, ENST00000459864, ENST00000467561, ENST00000474177, ENST00000536534
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.

Markers in Region
D1S2467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,406,778 - 242,406,977UniSTSGRCh37
Build 361240,473,401 - 240,473,600RGDNCBI36
Celera1215,661,965 - 215,662,164RGD
Cytogenetic Map1q43UniSTS
HuRef1212,869,768 - 212,869,967UniSTS
Whitehead-RH Map1922.8UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11967.1UniSTS
D1S1634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,330,327 - 242,330,500UniSTSGRCh37
Build 361240,396,950 - 240,397,123RGDNCBI36
Celera1215,585,529 - 215,585,699RGD
Cytogenetic Map1q43UniSTS
HuRef1212,793,307 - 212,793,474UniSTS
Marshfield Genetic Map1271.48UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S3380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,304,081 - 242,304,363UniSTSGRCh37
Build 361240,370,704 - 240,370,986RGDNCBI36
Celera1215,559,285 - 215,559,567RGD
Cytogenetic Map1q43UniSTS
HuRef1212,763,454 - 212,763,736UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1922.8UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL033756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,430,688 - 242,430,833UniSTSGRCh37
GRCh371038,619,897 - 38,620,042UniSTSGRCh37
Build 361240,497,311 - 240,497,456RGDNCBI36
Celera1215,685,841 - 215,685,986RGD
Celera1038,390,909 - 38,391,054UniSTS
Cytogenetic Map1q43UniSTS
HuRef1038,328,403 - 38,328,548UniSTS
AL033725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,592,484 - 242,592,603UniSTSGRCh37
Build 361240,659,107 - 240,659,226RGDNCBI36
Celera1215,847,694 - 215,847,813RGD
Cytogenetic Map1q43UniSTS
HuRef1213,027,313 - 213,027,432UniSTS
RH103811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,394,106 - 242,394,236UniSTSGRCh37
Build 361240,460,729 - 240,460,859RGDNCBI36
Celera1215,649,311 - 215,649,441RGD
Cytogenetic Map1q43UniSTS
HuRef1212,857,109 - 212,857,239UniSTS
GeneMap99-GB4 RH Map1750.34UniSTS
RH104420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,652,977 - 242,653,117UniSTSGRCh37
Build 361240,719,600 - 240,719,740RGDNCBI36
Celera1215,908,234 - 215,908,374RGD
Cytogenetic Map1q43UniSTS
HuRef1213,087,852 - 213,087,992UniSTS
GeneMap99-GB4 RH Map1755.15UniSTS
SHGC-68669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,443,218 - 242,443,319UniSTSGRCh37
GRCh371038,607,584 - 38,607,685UniSTSGRCh37
Build 361240,509,841 - 240,509,942RGDNCBI36
Celera1215,698,363 - 215,698,464RGD
Celera1038,378,611 - 38,378,712UniSTS
Cytogenetic Map1q43UniSTS
HuRef1038,316,102 - 38,316,203UniSTS
RH121562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,440,113 - 242,440,453UniSTSGRCh37
GRCh371038,610,275 - 38,610,615UniSTSGRCh37
Build 361240,506,736 - 240,507,076RGDNCBI36
Celera1215,695,257 - 215,695,597RGD
Celera1038,381,301 - 38,381,641UniSTS
Cytogenetic Map1q43UniSTS
HuRef1038,318,785 - 38,319,125UniSTS
RH122039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371038,596,482 - 38,596,823UniSTSGRCh37
GRCh371242,453,932 - 242,454,273UniSTSGRCh37
Build 361240,520,555 - 240,520,896RGDNCBI36
Celera1038,367,892 - 38,368,233RGD
Cytogenetic Map1q43UniSTS
HuRef1038,305,077 - 38,305,418UniSTS
G62494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371038,524,272 - 38,524,614UniSTSGRCh37
GRCh371242,524,294 - 242,524,636UniSTSGRCh37
Build 361240,590,917 - 240,591,259RGDNCBI36
Celera1215,779,738 - 215,780,080RGD
Celera1038,295,656 - 38,295,998UniSTS
Cytogenetic Map1q43UniSTS
HuRef1038,232,859 - 38,233,201UniSTS
HuRef1212,958,672 - 212,959,014UniSTS
D1S1858E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,304,149 - 242,304,305UniSTSGRCh37
Build 361240,370,772 - 240,370,928RGDNCBI36
Celera1215,559,353 - 215,559,509RGD
Cytogenetic Map1q43UniSTS
HuRef1212,763,522 - 212,763,678UniSTS
SHGC-53503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,393,927 - 242,394,170UniSTSGRCh37
Build 361240,460,550 - 240,460,793RGDNCBI36
Celera1215,649,132 - 215,649,375RGD
Cytogenetic Map1q43UniSTS
HuRef1212,856,930 - 212,857,173UniSTS
TNG Radiation Hybrid Map1122565.0UniSTS
AL009593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,653,257 - 242,653,383UniSTSGRCh37
Build 361240,719,880 - 240,720,006RGDNCBI36
Celera1215,908,514 - 215,908,640RGD
Cytogenetic Map1q43UniSTS
HuRef1213,088,132 - 213,088,258UniSTS
D1S3409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371038,601,889 - 38,601,990UniSTSGRCh37
GRCh371242,448,822 - 242,448,923UniSTSGRCh37
Build 361240,515,445 - 240,515,546RGDNCBI36
Celera1215,703,964 - 215,704,065RGD
Cytogenetic Map1q43UniSTS
HuRef1038,310,489 - 38,310,590UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-76605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,305,285 - 242,305,466UniSTSGRCh37
Build 361240,371,908 - 240,372,089RGDNCBI36
Celera1215,560,489 - 215,560,670RGD
Cytogenetic Map1q43UniSTS
HuRef1212,764,658 - 212,764,839UniSTS
TNG Radiation Hybrid Map1122533.0UniSTS
GeneMap99-GB4 RH Map1752.54UniSTS
NCBI RH Map11975.8UniSTS
AL009886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371242,564,088 - 242,564,170UniSTSGRCh37
Build 361240,630,711 - 240,630,793RGDNCBI36
Celera1215,819,296 - 215,819,378RGD
Cytogenetic Map1q43UniSTS
HuRef1212,998,922 - 212,999,004UniSTS


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
High
Medium 1 234 5 2 2 2 34 3 183 1 1 16 31
Low 428 1035 644 110 77 18 998 308 2646 46 705 291 95 1 239 692 2
Below cutoff 1796 1358 847 323 940 257 3184 1808 860 222 544 1112 72 958 2033 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001195811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK091691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY391836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY461578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU581400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR004966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000314833   ⟹   ENSP00000314748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,088,387 - 242,449,456 (-)Ensembl
RefSeq Acc Id: ENST00000366545   ⟹   ENSP00000355503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,088,970 - 242,524,696 (-)Ensembl
RefSeq Acc Id: ENST00000427495   ⟹   ENSP00000401285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,088,387 - 242,449,482 (-)Ensembl
RefSeq Acc Id: ENST00000442594   ⟹   ENSP00000414188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,088,387 - 242,524,696 (-)Ensembl
RefSeq Acc Id: ENST00000459864   ⟹   ENSP00000438191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,265,337 - 242,449,425 (-)Ensembl
RefSeq Acc Id: ENST00000467561   ⟹   ENSP00000440132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,124,418 - 242,524,671 (-)Ensembl
RefSeq Acc Id: ENST00000474177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,235,462 - 242,265,433 (-)Ensembl
RefSeq Acc Id: ENST00000536534   ⟹   ENSP00000440896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1242,082,986 - 242,524,697 (-)Ensembl
RefSeq Acc Id: NM_001195811   ⟹   NP_001182740
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,449,468 (-)NCBI
GRCh371242,251,689 - 242,687,998 (-)ENTREZGENE
HuRef1212,919,621 - 213,122,645 (-)ENTREZGENE
HuRef1212,711,210 - 212,853,533 (-)NCBI
CHM1_11243,524,434 - 243,885,102 (-)NCBI
T2T-CHM13v2.01241,495,068 - 241,861,471 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195812   ⟹   NP_001182741
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,449,468 (-)NCBI
GRCh371242,251,689 - 242,687,998 (-)ENTREZGENE
HuRef1212,919,621 - 213,122,645 (-)ENTREZGENE
HuRef1212,711,210 - 212,853,533 (-)NCBI
CHM1_11243,524,434 - 243,885,102 (-)NCBI
T2T-CHM13v2.01241,495,068 - 241,861,471 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320272   ⟹   NP_001307201
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,524,697 (-)NCBI
CHM1_11243,524,434 - 243,960,008 (-)NCBI
T2T-CHM13v2.01241,495,068 - 241,936,684 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372062   ⟹   NP_001358991
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,524,697 (-)NCBI
T2T-CHM13v2.01241,495,068 - 241,936,684 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544115   ⟹   XP_011542417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,530,546 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544116   ⟹   XP_011542418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,529,832 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544119   ⟹   XP_011542421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,252,412 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544120   ⟹   XP_011542422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,265,442 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544121   ⟹   XP_011542423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,245,120 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544122   ⟹   XP_011542424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,241,743 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000570   ⟹   XP_016856059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,241,743 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453867   ⟹   XP_024309635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,361,018 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448702   ⟹   XP_047304658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,302,431 (-)NCBI
RefSeq Acc Id: XM_047448705   ⟹   XP_047304661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,082,986 - 242,302,431 (-)NCBI
RefSeq Acc Id: XM_054334939   ⟹   XP_054190914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,773,056 (-)NCBI
RefSeq Acc Id: XM_054334940   ⟹   XP_054190915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,942,534 (-)NCBI
RefSeq Acc Id: XM_054334941   ⟹   XP_054190916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,941,820 (-)NCBI
RefSeq Acc Id: XM_054334942   ⟹   XP_054190917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,664,481 (-)NCBI
RefSeq Acc Id: XM_054334943   ⟹   XP_054190918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,714,478 (-)NCBI
RefSeq Acc Id: XM_054334944   ⟹   XP_054190919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,714,478 (-)NCBI
RefSeq Acc Id: XM_054334945   ⟹   XP_054190920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,653,914 (-)NCBI
RefSeq Acc Id: XM_054334946   ⟹   XP_054190921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,677,497 (-)NCBI
RefSeq Acc Id: XM_054334947   ⟹   XP_054190922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,653,914 (-)NCBI
RefSeq Acc Id: XM_054334948   ⟹   XP_054190923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01241,495,068 - 241,657,209 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001182740 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182741 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307201 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358991 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542417 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542418 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542421 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542422 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542423 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542424 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856059 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309635 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304658 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190915 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190923 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI01374 (Get FASTA)   NCBI Sequence Viewer  
  AAI01375 (Get FASTA)   NCBI Sequence Viewer  
  AAI01376 (Get FASTA)   NCBI Sequence Viewer  
  AAS91020 (Get FASTA)   NCBI Sequence Viewer  
  BAC03722 (Get FASTA)   NCBI Sequence Viewer  
  BAC05230 (Get FASTA)   NCBI Sequence Viewer  
  BAH12060 (Get FASTA)   NCBI Sequence Viewer  
  EAW70111 (Get FASTA)   NCBI Sequence Viewer  
  EAW70112 (Get FASTA)   NCBI Sequence Viewer  
  EAW70113 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000314748.6
  ENSP00000355503.4
  ENSP00000401285
  ENSP00000401285.1
  ENSP00000414188.3
  ENSP00000438191.1
  ENSP00000440132.1
  ENSP00000440896
  ENSP00000440896.1
GenBank Protein Q8N7P1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001182740   ⟸   NM_001195811
- Peptide Label: isoform 2
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182741   ⟸   NM_001195812
- Peptide Label: isoform 3
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542417   ⟸   XM_011544115
- Peptide Label: isoform X2
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542418   ⟸   XM_011544116
- Peptide Label: isoform X2
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542422   ⟸   XM_011544120
- Peptide Label: isoform X5
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542421   ⟸   XM_011544119
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542423   ⟸   XM_011544121
- Peptide Label: isoform X5
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542424   ⟸   XM_011544122
- Peptide Label: isoform X5
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307201   ⟸   NM_001320272
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: XP_016856059   ⟸   XM_017000570
- Peptide Label: isoform X5
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309635   ⟸   XM_024453867
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001358991   ⟸   NM_001372062
- Peptide Label: isoform 1
- UniProtKB: Q8N7P1 (UniProtKB/Swiss-Prot),   Q494U9 (UniProtKB/Swiss-Prot),   B7Z324 (UniProtKB/Swiss-Prot),   A1KXV0 (UniProtKB/Swiss-Prot),   Q8NB22 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000401285   ⟸   ENST00000427495
RefSeq Acc Id: ENSP00000440132   ⟸   ENST00000467561
RefSeq Acc Id: ENSP00000414188   ⟸   ENST00000442594
RefSeq Acc Id: ENSP00000440896   ⟸   ENST00000536534
RefSeq Acc Id: ENSP00000355503   ⟸   ENST00000366545
RefSeq Acc Id: ENSP00000438191   ⟸   ENST00000459864
RefSeq Acc Id: ENSP00000314748   ⟸   ENST00000314833
RefSeq Acc Id: XP_047304661   ⟸   XM_047448705
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304658   ⟸   XM_047448702
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190915   ⟸   XM_054334940
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190916   ⟸   XM_054334941
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190914   ⟸   XM_054334939
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190919   ⟸   XM_054334944
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190918   ⟸   XM_054334943
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190921   ⟸   XM_054334946
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190917   ⟸   XM_054334942
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190923   ⟸   XM_054334948
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190922   ⟸   XM_054334947
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190920   ⟸   XM_054334945
- Peptide Label: isoform X5
Protein Domains
PLD phosphodiesterase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N7P1-F1-model_v2 AlphaFold Q8N7P1 1-536 view protein structure

Promoters
RGD ID:6859410
Promoter ID:EPDNEW_H2870
Type:initiation region
Name:PLD5_1
Description:phospholipase D family member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2871  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,449,468 - 242,449,528EPDNEW
RGD ID:6859412
Promoter ID:EPDNEW_H2871
Type:initiation region
Name:PLD5_2
Description:phospholipase D family member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2870  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381242,524,444 - 242,524,504EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26879 AgrOrtholog
COSMIC PLD5 COSMIC
Ensembl Genes ENSG00000180287 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314833.10 UniProtKB/TrEMBL
  ENST00000366545.5 UniProtKB/TrEMBL
  ENST00000427495 ENTREZGENE
  ENST00000427495.5 UniProtKB/Swiss-Prot
  ENST00000442594.6 UniProtKB/Swiss-Prot
  ENST00000459864.1 UniProtKB/TrEMBL
  ENST00000467561.5 UniProtKB/TrEMBL
  ENST00000536534 ENTREZGENE
  ENST00000536534.7 UniProtKB/Swiss-Prot
Gene3D-CATH Endonuclease Chain A UniProtKB/Swiss-Prot
GTEx ENSG00000180287 GTEx
HGNC ID HGNC:26879 ENTREZGENE
Human Proteome Map PLD5 Human Proteome Map
InterPro PLDc_3 UniProtKB/Swiss-Prot
  PLipase_D/transphosphatidylase UniProtKB/Swiss-Prot
KEGG Report hsa:200150 UniProtKB/Swiss-Prot
NCBI Gene 200150 ENTREZGENE
PANTHER INACTIVE PHOSPHOLIPASE D5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHOLIPASE D - RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PLDc_3 UniProtKB/Swiss-Prot
PharmGKB PA142671168 PharmGKB
SMART PLDc UniProtKB/Swiss-Prot
Superfamily-SCOP Phospholipase D/nuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1KXV0 ENTREZGENE
  B7Z324 ENTREZGENE
  F5GXZ8_HUMAN UniProtKB/TrEMBL
  F5H329_HUMAN UniProtKB/TrEMBL
  F8W7H1_HUMAN UniProtKB/TrEMBL
  J3KP61_HUMAN UniProtKB/TrEMBL
  L8ECN2_HUMAN UniProtKB/TrEMBL
  PLD5_HUMAN UniProtKB/Swiss-Prot
  Q494U9 ENTREZGENE
  Q8N7P1 ENTREZGENE
  Q8NB22 ENTREZGENE
UniProt Secondary A1KXV0 UniProtKB/Swiss-Prot
  B7Z324 UniProtKB/Swiss-Prot
  Q494U9 UniProtKB/Swiss-Prot
  Q8NB22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLD5  phospholipase D family member 5    phospholipase D family, member 5  Symbol and/or name change 5135510 APPROVED