AGPAT4 (1-acylglycerol-3-phosphate O-acyltransferase 4) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AGPAT4 (1-acylglycerol-3-phosphate O-acyltransferase 4) Homo sapiens
Analyze
Symbol: AGPAT4
Name: 1-acylglycerol-3-phosphate O-acyltransferase 4
RGD ID: 1354001
HGNC Page HGNC:20885
Description: Predicted to enable 1-acylglycerol-3-phosphate O-acyltransferase activity. Predicted to be involved in phosphatidic acid biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endomembrane system and mitochondrial outer membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1-acyl-sn-glycerol-3-phosphate acyltransferase delta; 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta); 1-AGP acyltransferase 4; 1-AGPAT 4; 1-AGPAT4; dJ473J16.2; LPAAT-delta; LPAAT4; LPLAT4; lysophosphatidic acid acyltransferase delta; lysophosphatidic acid acyltransferase-delta (LPAAT-delta); lysophospholipid acyltransferase 4; RP3-473J16.2
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
GRCh386161,129,967 - 161,274,061 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6161,129,967 - 161,274,061 (-)EnsemblGRCh38hg38GRCh38
GRCh376161,550,999 - 161,695,093 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366161,471,047 - 161,615,097 (-)NCBINCBI36Build 36hg18NCBI36
Build 346161,527,517 - 161,665,448NCBI
Celera6162,280,457 - 162,424,409 (-)NCBICelera
Cytogenetic Map6q26NCBI
HuRef6159,006,418 - 159,150,408 (-)NCBIHuRef
CHM1_16161,813,702 - 161,957,597 (-)NCBICHM1_1
T2T-CHM13v2.06162,488,365 - 162,632,384 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AGPAT4Human3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness more ...ClinVarPMID:15220921 more ...

1 to 20 of 76 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AGPAT4Human1,2-dimethylhydrazine decreases expressionISOAgpat4 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of AGPAT4 mRNACTDPMID:22206623
AGPAT4Human1,2-dimethylhydrazine multiple interactionsISOAgpat4 (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of AGPAT4 mRNACTDPMID:22206623
AGPAT4Human17alpha-ethynylestradiol multiple interactionsISOAgpat4 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AGPAT4 mRNACTDPMID:17942748
AGPAT4Human17beta-estradiol multiple interactionsEXP 6480464[Progesterone co-treated with Estradiol] results in decreased expression of AGPAT4 mRNACTDPMID:17404688
AGPAT4Human2,2',4,4',5,5'-hexachlorobiphenyl decreases expressionISOAgpat4 (Mus musculus)64804642 more ...CTDPMID:20005886
AGPAT4Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOAgpat4 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AGPAT4 mRNACTDPMID:17942748
AGPAT4Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOAgpat4 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of AGPAT4 mRNACTDPMID:33387578
AGPAT4Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOAgpat4 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of AGPAT4 mRNACTDPMID:34747641
AGPAT4Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOAgpat4 (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of AGPAT4 mRNACTDPMID:28238261
AGPAT4Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOAgpat4 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of AGPAT4 mRNACTDPMID:21354282
AGPAT4Human2-hydroxypropanoic acid decreases expressionEXP 6480464Lactic Acid results in decreased expression of AGPAT4 mRNACTDPMID:30851411
AGPAT4Human2-methylcholine affects expressionEXP 6480464beta-methylcholine affects the expression of AGPAT4 mRNACTDPMID:21179406
AGPAT4Human4,4'-sulfonyldiphenol multiple interactionsEXP 6480464[bisphenol S co-treated with Fulvestrant] results in increased methylation of AGPAT4 geneCTDPMID:31601247
AGPAT4Human4,4'-sulfonyldiphenol multiple interactionsISOAgpat4 (Rattus norvegicus)6480464[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of AGPAT4 mRNACTDPMID:36041667
AGPAT4Human4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid increases expressionEXP 6480464Am 580 results in increased expression of AGPAT4 mRNACTDPMID:16982809
AGPAT4Human4-hydroxyphenyl retinamide decreases expressionISOAgpat4 (Mus musculus)6480464Fenretinide results in decreased expression of AGPAT4 mRNACTDPMID:28973697
AGPAT4Humanacetamide increases expressionISOAgpat4 (Rattus norvegicus)6480464acetamide results in increased expression of AGPAT4 mRNACTDPMID:31881176
AGPAT4Humanall-trans-retinoic acid decreases expressionEXP 6480464Tretinoin results in decreased expression of AGPAT4 mRNACTDPMID:33167477
AGPAT4Humanammonium chloride affects expressionISOAgpat4 (Rattus norvegicus)6480464Ammonium Chloride affects the expression of AGPAT4 mRNACTDPMID:16483693
AGPAT4Humanaristolochic acid A decreases expressionEXP 6480464aristolochic acid I results in decreased expression of AGPAT4 mRNACTDPMID:33212167

1 to 20 of 76 rows

Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AGPAT4HumanCDP-diacylglycerol biosynthetic process involved_inIEAUniPathway:UPA00557150520179 UniProtGO_REF:0000041
AGPAT4Humanlipid metabolic process involved_inIEAUniProtKB-KW:KW-0443150520179 UniProtGO_REF:0000043
AGPAT4Humanphosphatidic acid biosynthetic process involved_inTAS 150520179 ReactomeReactome:R-HSA-1483166
AGPAT4Humanphospholipid biosynthetic process involved_inNAS 150520179 PMID:15367102UniProtPMID:15367102
AGPAT4Humanphospholipid biosynthetic process involved_inIEAUniProtKB-KW:KW-0594150520179 UniProtGO_REF:0000043
AGPAT4Humanphospholipid metabolic process involved_inIEAUniProtKB:Q8K4X7 and ensembl:ENSMUSP00000024594150520179 EnsemblGO_REF:0000107

Cellular Component
1 to 10 of 10 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AGPAT4Humanendomembrane system is_active_inIBAMGI:1336186 more ...150520179 GO_CentralGO_REF:0000033
AGPAT4Humanendoplasmic reticulum located_inIEAUniProtKB-KW:KW-0256150520179 UniProtGO_REF:0000043
AGPAT4Humanendoplasmic reticulum located_inISSUniProtKB:Q8K4X7150520179 UniProtGO_REF:0000024
AGPAT4Humanendoplasmic reticulum located_inIEAUniProtKB:Q8K4X7 and ensembl:ENSMUSP00000024594150520179 EnsemblGO_REF:0000107
AGPAT4Humanendoplasmic reticulum membrane located_inIEAUniProtKB-SubCell:SL-0097150520179 UniProtGO_REF:0000044
AGPAT4Humanendoplasmic reticulum membrane located_inIEAARBA:ARBA00028685150520179 UniProtGO_REF:0000117
AGPAT4Humanendoplasmic reticulum membrane located_inTAS 150520179 ReactomeReactome:R-HSA-75885
AGPAT4Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
AGPAT4Humanmitochondrial outer membrane is_active_inIEAUniProtKB:Q8K4X7 and ensembl:ENSMUSP00000024594150520179 EnsemblGO_REF:0000107
AGPAT4Humanmitochondrial outer membrane is_active_inIBAMGI:1915512 and PANTHER:PTN002590791150520179 GO_CentralGO_REF:0000033
1 to 10 of 10 rows

Molecular Function
1 to 13 of 13 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesIEAUniProtKB:Q8K4X7 and ensembl:ENSMUSP00000024594150520179 EnsemblGO_REF:0000107
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesIBAMGI:1915512 more ...150520179 GO_CentralGO_REF:0000033
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesIEARHEA:19709150520179 RHEAGO_REF:0000116
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesTAS 150520179 ReactomeReactome:R-HSA-75885
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesIEAEC:2.3.1.51150520179 UniProtGO_REF:0000003
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesISSUniProtKB:Q8K4X7150520179 UniProtGO_REF:0000024
AGPAT4Human1-acylglycerol-3-phosphate O-acyltransferase activity enablesNAS 150520179 PMID:15367102UniProtPMID:15367102
AGPAT4Humanacyltransferase activity enablesIEAUniProtKB-KW:KW-0012150520179 UniProtGO_REF:0000043
AGPAT4Humanacyltransferase activity enablesIEAInterPro:IPR002123150520179 InterProGO_REF:0000002
AGPAT4Humanlysophosphatidic acid acyltransferase activity enablesIEAUniProtKB:Q8K4X7 and ensembl:ENSMUSP00000024594150520179 EnsemblGO_REF:0000107
AGPAT4Humanprotein binding enablesIPIUniProtKB:Q04864150520179 PMID:25416956IntActPMID:25416956
AGPAT4Humanprotein binding enablesIPIUniProtKB:A6NM10-2 more ...150520179 PMID:32296183IntActPMID:32296183
AGPAT4Humantransferase activity enablesIEAUniProtKB-KW:KW-0808150520179 UniProtGO_REF:0000043
1 to 13 of 13 rows

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AGPAT4Humanglycerophospholipid metabolic pathway  IEA 6907045 KEGGhsa:00564

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:9828130   PMID:11487472   PMID:12477932   PMID:12975309   PMID:14574404   PMID:15367102   PMID:15489334   PMID:17207965   PMID:17474147   PMID:20379614   PMID:21873635   PMID:24047446  
PMID:25416956   PMID:26186194   PMID:26417903   PMID:28514442   PMID:30833792   PMID:31796584   PMID:31980649   PMID:32296017   PMID:32296183   PMID:32513696   PMID:32707033   PMID:33961781  
PMID:34709727   PMID:36114006   PMID:36215168   PMID:36897256   PMID:36949045   PMID:37314216  



AGPAT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386161,129,967 - 161,274,061 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6161,129,967 - 161,274,061 (-)EnsemblGRCh38hg38GRCh38
GRCh376161,550,999 - 161,695,093 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366161,471,047 - 161,615,097 (-)NCBINCBI36Build 36hg18NCBI36
Build 346161,527,517 - 161,665,448NCBI
Celera6162,280,457 - 162,424,409 (-)NCBICelera
Cytogenetic Map6q26NCBI
HuRef6159,006,418 - 159,150,408 (-)NCBIHuRef
CHM1_16161,813,702 - 161,957,597 (-)NCBICHM1_1
T2T-CHM13v2.06162,488,365 - 162,632,384 (-)NCBIT2T-CHM13v2.0
Agpat4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391712,337,372 - 12,438,536 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1712,337,591 - 12,438,532 (+)EnsemblGRCm39 Ensembl
GRCm381712,118,485 - 12,219,649 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1712,118,704 - 12,219,645 (+)EnsemblGRCm38mm10GRCm38
MGSCv371712,312,150 - 12,412,506 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361711,962,642 - 12,062,998 (+)NCBIMGSCv36mm8
Celera1712,147,922 - 12,252,652 (+)NCBICelera
Cytogenetic Map17A1NCBI
cM Map178.33NCBI
Agpat4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8151,075,081 - 51,181,548 (-)NCBIGRCr8
mRatBN7.2148,525,131 - 48,633,798 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl148,527,323 - 48,633,345 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx149,218,910 - 49,324,839 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0155,203,981 - 55,309,606 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0149,294,411 - 49,400,333 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0148,716,094 - 48,826,292 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl148,719,633 - 48,825,364 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0150,929,133 - 51,035,499 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4142,986,809 - 43,096,390 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1142,989,754 - 43,099,335 (-)NCBI
Celera144,317,112 - 44,422,634 (-)NCBICelera
Cytogenetic Map1q11NCBI
Agpat4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543920,050,619 - 20,132,893 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543920,050,619 - 20,132,893 (+)NCBIChiLan1.0ChiLan1.0
AGPAT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25181,305,186 - 181,450,074 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16179,210,769 - 179,355,480 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06159,075,360 - 159,219,887 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16164,085,970 - 164,229,696 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6164,092,522 - 164,229,696 (-)Ensemblpanpan1.1panPan2
AGPAT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1149,709,437 - 49,837,848 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl149,709,741 - 49,837,091 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha150,552,643 - 50,680,914 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0149,894,606 - 50,022,389 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl149,894,612 - 50,023,044 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1149,776,903 - 49,904,869 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0149,647,989 - 49,776,147 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0150,264,213 - 50,392,536 (-)NCBIUU_Cfam_GSD_1.0
Agpat4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946144,730,179 - 144,826,056 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648911,981,969 - 12,042,447 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648911,982,488 - 12,078,132 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGPAT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl16,772,417 - 6,883,551 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.116,761,734 - 6,883,555 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.218,330,534 - 8,440,346 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGPAT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11388,634,100 - 88,782,371 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1388,640,548 - 88,781,702 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604060,965,050 - 61,111,779 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agpat4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248552,046,014 - 2,161,398 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248552,046,000 - 2,185,729 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in AGPAT4
39 total Variants

1 to 10 of 66 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27
pathogenic
1 to 10 of 66 rows

Predicted Target Of
Summary Value
Count of predictions:7411
Count of miRNA genes:1342
Interacting mature miRNAs:1752
Transcripts:ENST00000320285, ENST00000366905, ENST00000366906, ENST00000366908, ENST00000366911, ENST00000436279, ENST00000437165, ENST00000457520
Prediction methods:Microtar, 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.


1 to 10 of 66 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597258269GWAS1354343_Htriglyceride measurement, phospholipid measurement QTL GWAS1354343 (human)1e-17triglyceride measurement, phospholipid measurementblood triglyceride level (CMO:0000118)6161239068161239069Human
597166237GWAS1262311_Htriglyceride measurement QTL GWAS1262311 (human)3e-20non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)6161238337161238338Human
597066782GWAS1162856_Hfear of pain measurement QTL GWAS1162856 (human)0.000001fear-related behavior trait (VT:0010715)6161246020161246021Human
597307408GWAS1403482_HAlzheimer's disease biomarker measurement QTL GWAS1403482 (human)0.000001Alzheimer's disease biomarker measurement6161129967161129968Human
597274135GWAS1370209_Hhigh density lipoprotein cholesterol measurement QTL GWAS1370209 (human)1e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)6161167340161167341Human
597157767GWAS1253841_Hfatty acid measurement QTL GWAS1253841 (human)6e-10fatty acid measurement6161239068161239069Human
597316235GWAS1412309_Hvaginal microbiome measurement QTL GWAS1412309 (human)0.00001vaginal microbiome measurement6161201574161201575Human
597265035GWAS1361109_Htotal cholesterol measurement QTL GWAS1361109 (human)6e-23total cholesterol measurementblood total cholesterol level (CMO:0000051)6161238337161238338Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
407123538GWAS772514_Hanxiety QTL GWAS772514 (human)0.000008anxiety6161254459161254460Human

1 to 10 of 66 rows
RH63713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376161,585,978 - 161,586,122UniSTSGRCh37
Build 366161,505,968 - 161,506,112RGDNCBI36
Celera6162,315,378 - 162,315,522RGD
Cytogenetic Map6q26UniSTS
HuRef6159,041,340 - 159,041,484UniSTS
GeneMap99-GB4 RH Map6636.32UniSTS
NCBI RH Map61631.6UniSTS
SHGC-105981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376161,655,494 - 161,655,805UniSTSGRCh37
Build 366161,575,484 - 161,575,795RGDNCBI36
Celera6162,384,892 - 162,385,203RGD
Cytogenetic Map6q26UniSTS
HuRef6159,111,172 - 159,111,483UniSTS
TNG Radiation Hybrid Map629935.0UniSTS
WI-13958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376161,557,167 - 161,557,294UniSTSGRCh37
Build 366161,477,157 - 161,477,284RGDNCBI36
Celera6162,286,567 - 162,286,694RGD
Cytogenetic Map6q26UniSTS
HuRef6159,012,528 - 159,012,655UniSTS
GeneMap99-GB4 RH Map6628.21UniSTS
Whitehead-RH Map6833.8UniSTS
NCBI RH Map61631.6UniSTS
RH46750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376161,557,188 - 161,557,356UniSTSGRCh37
Build 366161,477,178 - 161,477,346RGDNCBI36
Celera6162,286,588 - 162,286,756RGD
Cytogenetic Map6q26UniSTS
HuRef6159,012,549 - 159,012,717UniSTS
GeneMap99-GB4 RH Map6626.5UniSTS
NCBI RH Map61631.6UniSTS




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
1204 2419 2788 2249 4973 1725 2344 6 623 1936 464 2269 7281 6461 53 3734 1 852 1742 1611 175 1


1 to 27 of 27 rows
RefSeq Transcripts NM_020133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF156776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ227890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ227891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX119047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ072907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 27 of 27 rows

Ensembl Acc Id: ENST00000320285   ⟹   ENSP00000314036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6161,129,967 - 161,274,061 (-)Ensembl
Ensembl Acc Id: ENST00000366905   ⟹   ENSP00000355872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6161,165,838 - 161,274,032 (-)Ensembl
Ensembl Acc Id: ENST00000366911   ⟹   ENSP00000355878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6161,129,979 - 161,274,025 (-)Ensembl
Ensembl Acc Id: ENST00000436279   ⟹   ENSP00000413901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6161,149,205 - 161,232,236 (-)Ensembl
Ensembl Acc Id: ENST00000437165   ⟹   ENSP00000400211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6161,143,956 - 161,149,289 (-)Ensembl
Ensembl Acc Id: ENST00000624499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6161,160,105 - 161,273,963 (-)Ensembl
RefSeq Acc Id: NM_020133   ⟹   NP_064518
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386161,129,967 - 161,274,061 (-)NCBI
GRCh376161,551,057 - 161,695,107 (-)RGD
Build 366161,471,047 - 161,615,097 (-)NCBI Archive
Celera6162,280,457 - 162,424,409 (-)RGD
HuRef6159,006,418 - 159,150,408 (-)ENTREZGENE
CHM1_16161,813,702 - 161,957,597 (-)NCBI
T2T-CHM13v2.06162,488,365 - 162,632,384 (-)NCBI
Sequence:
RefSeq Acc Id: NP_064518   ⟸   NM_020133
- UniProtKB: B4DSF9 (UniProtKB/Swiss-Prot),   Q5TEF0 (UniProtKB/Swiss-Prot),   Q9NRZ5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000314036   ⟸   ENST00000320285
Ensembl Acc Id: ENSP00000355878   ⟸   ENST00000366911
Ensembl Acc Id: ENSP00000355872   ⟸   ENST00000366905
Ensembl Acc Id: ENSP00000413901   ⟸   ENST00000436279
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRZ5-F1-model_v2 AlphaFold Q9NRZ5 1-378 view protein structure

RGD ID:7209619
Promoter ID:EPDNEW_H10555
Type:initiation region
Name:AGPAT4_1
Description:1-acylglycerol-3-phosphate O-acyltransferase 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
GRCh386161,274,061 - 161,274,121EPDNEW
RGD ID:6803992
Promoter ID:HG_KWN:55706
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366905,   ENST00000366906,   ENST00000366908,   NM_020133,   UC003QTS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366161,614,891 - 161,615,391 (-)MPROMDB


1 to 31 of 31 rows
Database
Acc Id
Source(s)
COSMIC AGPAT4 COSMIC
Ensembl Genes ENSG00000026652 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000320285 ENTREZGENE
  ENST00000320285.9 UniProtKB/Swiss-Prot
GTEx ENSG00000026652 GTEx
HGNC ID HGNC:20885 ENTREZGENE
Human Proteome Map AGPAT4 Human Proteome Map
InterPro Acyltransf_C UniProtKB/Swiss-Prot
  Plipid/glycerol_acylTrfase UniProtKB/Swiss-Prot
KEGG Report hsa:56895 UniProtKB/Swiss-Prot
NCBI Gene 56895 ENTREZGENE
OMIM 614795 OMIM
PANTHER 1-ACYL-SN-GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE DELTA UniProtKB/Swiss-Prot
  1-ACYLGLYCEROL-3-PHOSPHATE ACYLTRANSFERASE-RELATED UniProtKB/Swiss-Prot
Pfam Acyltransf_C UniProtKB/Swiss-Prot
  Acyltransferase UniProtKB/Swiss-Prot
PharmGKB PA134961047 PharmGKB
SMART PlsC UniProtKB/Swiss-Prot
Superfamily-SCOP Glycerol-3-phosphate (1)-acyltransferase UniProtKB/Swiss-Prot
UniProt B4DHC0_HUMAN UniProtKB/TrEMBL
  B4DSF9 ENTREZGENE
  G3XAF1_HUMAN UniProtKB/TrEMBL
  H0Y5R3_HUMAN UniProtKB/TrEMBL
  PLCD_HUMAN UniProtKB/Swiss-Prot
  Q5TEE8_HUMAN UniProtKB/TrEMBL
  Q5TEF0 ENTREZGENE
  Q6AI25_HUMAN UniProtKB/TrEMBL
  Q6PJN9_HUMAN UniProtKB/TrEMBL
  Q9NRZ5 ENTREZGENE
UniProt Secondary B4DSF9 UniProtKB/Swiss-Prot
  Q5TEF0 UniProtKB/Swiss-Prot
1 to 31 of 31 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-02-12 AGPAT4  1-acylglycerol-3-phosphate O-acyltransferase 4  AGPAT4  1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)  Symbol and/or name change 5135510 APPROVED