MOGAT3 (monoacylglycerol O-acyltransferase 3) - Rat Genome Database

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Gene: MOGAT3 (monoacylglycerol O-acyltransferase 3) Homo sapiens
Analyze
Symbol: MOGAT3
Name: monoacylglycerol O-acyltransferase 3
RGD ID: 1350436
HGNC Page HGNC
Description: Enables 2-acylglycerol O-acyltransferase activity and diacylglycerol O-acyltransferase activity. Involved in monoacylglycerol biosynthetic process and triglyceride biosynthetic process. Located in endoplasmic reticulum membrane and perinuclear endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2-acylglycerol O-acyltransferase 3; acyl coenzyme A:monoacylglycerol acyltransferase 3; acyl-CoA:monoacylglycerol acyltransferase 3; DC7; DGAT2L2; DGAT2L7; diacylglycerol acyltransferase 2-like protein 7; diacylglycerol O-acyltransferase candidate 7; hDC7; MGAT3; MGC119203; MGC119204
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387101,192,886 - 101,201,036 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7101,195,007 - 101,201,038 (-)EnsemblGRCh38hg38GRCh38
GRCh377100,838,288 - 100,844,317 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,625,730 - 100,631,022 (-)NCBINCBI36hg18NCBI36
Build 347100,432,448 - 100,437,737NCBI
Celera795,848,167 - 95,853,457 (-)NCBI
Cytogenetic Map7q22.1NCBI
HuRef795,431,875 - 95,437,162 (-)NCBIHuRef
CHM1_17100,769,415 - 100,774,706 (-)NCBICHM1_1
T2T-CHM13v2.07102,518,473 - 102,524,499 (-)NCBI
CRA_TCAGchr7v27100,197,397 - 100,202,689 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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:9847074   PMID:12477932   PMID:12618427   PMID:12853948   PMID:12975309   PMID:14970677   PMID:15489334   PMID:21832049   PMID:21873635   PMID:27184406   PMID:28420705   PMID:33961781  


Genomics

Comparative Map Data
MOGAT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387101,192,886 - 101,201,036 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7101,195,007 - 101,201,038 (-)EnsemblGRCh38hg38GRCh38
GRCh377100,838,288 - 100,844,317 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,625,730 - 100,631,022 (-)NCBINCBI36hg18NCBI36
Build 347100,432,448 - 100,437,737NCBI
Celera795,848,167 - 95,853,457 (-)NCBI
Cytogenetic Map7q22.1NCBI
HuRef795,431,875 - 95,437,162 (-)NCBIHuRef
CHM1_17100,769,415 - 100,774,706 (-)NCBICHM1_1
T2T-CHM13v2.07102,518,473 - 102,524,499 (-)NCBI
CRA_TCAGchr7v27100,197,397 - 100,202,689 (-)NCBI
Gm7284
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395137,026,816 - 137,028,306 (+)NCBIGRCm39mm39
GRCm39 Ensembl5137,026,240 - 137,028,148 (+)Ensembl
GRCm385136,997,962 - 136,999,452 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5136,997,386 - 136,999,294 (+)EnsemblGRCm38mm10GRCm38
MGSCv375137,473,833 - 137,475,891 (+)NCBIGRCm37mm9NCBIm37
MGSCv365137,473,104 - 137,478,875 (+)NCBImm8
Celera5134,013,374 - 134,015,445 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map576.1NCBI
Mogat3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21219,668,703 - 19,669,420 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1219,668,788 - 19,670,754 (-)Ensembl
Rnor_6.01222,708,622 - 22,710,787 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1222,708,708 - 22,710,674 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01224,720,558 - 24,723,065 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41220,872,588 - 20,874,639 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1221,444,653 - 21,446,820 (-)NCBICelera
Cytogenetic Map12q12NCBI
Mogat3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545616,090,859 - 16,094,736 (+)NCBIChiLan1.0ChiLan1.0
MOGAT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17106,577,727 - 106,582,799 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7106,577,727 - 106,582,799 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0793,337,040 - 93,342,822 (-)NCBIMhudiblu_PPA_v0panPan3
MOGAT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.168,675,453 - 8,679,722 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl68,675,504 - 8,679,113 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha610,372,760 - 10,376,481 (+)NCBI
ROS_Cfam_1.068,494,923 - 8,498,640 (+)NCBI
ROS_Cfam_1.0 Ensembl68,494,958 - 8,500,926 (+)Ensembl
UMICH_Zoey_3.168,455,108 - 8,458,822 (+)NCBI
UNSW_CanFamBas_1.068,425,738 - 8,429,459 (+)NCBI
UU_Cfam_GSD_1.068,590,338 - 8,594,064 (+)NCBI
Mogat3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344132,950,074 - 132,953,614 (+)NCBI
SpeTri2.0NW_0049365431,082,916 - 1,085,904 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MOGAT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12811,984,701 - 11,990,713 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2811,985,186 - 11,990,566 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660704,364,512 - 4,370,213 (-)NCBIVero_WHO_p1.0
Mogat3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474016,084,621 - 16,087,331 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1062
Count of miRNA genes:587
Interacting mature miRNAs:661
Transcripts:ENST00000223114, ENST00000379423, ENST00000440203
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 451 235 235 111 235 14 6 1
Low 286 6 211 205 100 207 115 10 11 192 43 23 3 4 1
Below cutoff 741 1003 496 62 679 17 1532 624 1636 130 747 696 53 405 942 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001287147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY229854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE042458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB886765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB911615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC944174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC969024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000223114   ⟹   ENSP00000223114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7101,195,007 - 101,201,036 (-)Ensembl
RefSeq Acc Id: ENST00000379423   ⟹   ENSP00000368734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7101,195,897 - 101,200,915 (-)Ensembl
RefSeq Acc Id: ENST00000440203   ⟹   ENSP00000403756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7101,195,897 - 101,200,912 (-)Ensembl
RefSeq Acc Id: ENST00000649999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7101,200,050 - 101,201,038 (-)Ensembl
RefSeq Acc Id: NM_001287147   ⟹   NP_001274076
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387101,195,007 - 101,201,036 (-)NCBI
HuRef795,431,875 - 95,437,162 (-)NCBI
CHM1_17100,769,415 - 100,774,706 (-)NCBI
T2T-CHM13v2.07102,518,473 - 102,524,499 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178176   ⟹   NP_835470
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387101,195,007 - 101,201,036 (-)NCBI
GRCh377100,839,010 - 100,844,302 (-)NCBI
Build 367100,625,730 - 100,631,022 (-)NCBI Archive
Celera795,848,167 - 95,853,457 (-)RGD
HuRef795,431,875 - 95,437,162 (-)ENTREZGENE
CHM1_17100,769,415 - 100,774,706 (-)NCBI
T2T-CHM13v2.07102,518,473 - 102,524,499 (-)NCBI
CRA_TCAGchr7v27100,197,397 - 100,202,689 (-)RGD
Sequence:
RefSeq Acc Id: XM_005250309   ⟹   XP_005250366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387101,195,847 - 101,201,036 (-)NCBI
GRCh377100,839,010 - 100,844,302 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744700
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387101,192,886 - 101,201,036 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744701
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387101,192,887 - 101,201,036 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_835470   ⟸   NM_178176
- Peptide Label: isoform a
- UniProtKB: Q86VF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250366   ⟸   XM_005250309
- Peptide Label: isoform X1
- UniProtKB: Q86VF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274076   ⟸   NM_001287147
- Peptide Label: isoform b
- UniProtKB: Q86VF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000403756   ⟸   ENST00000440203
RefSeq Acc Id: ENSP00000368734   ⟸   ENST00000379423
RefSeq Acc Id: ENSP00000223114   ⟸   ENST00000223114

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86VF5-F1-model_v2 AlphaFold Q86VF5 1-341 view protein structure

Promoters
RGD ID:7211457
Promoter ID:EPDNEW_H11474
Type:initiation region
Name:MOGAT3_1
Description:monoacylglycerol O-acyltransferase 3
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
GRCh387101,201,036 - 101,201,096EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1
pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 copy number loss See cases [RCV000054155] Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1
pathogenic
NM_178176.3(MOGAT3):c.845C>T (p.Pro282Leu) single nucleotide variant Malignant melanoma [RCV000067549] Chr7:101196213 [GRCh38]
Chr7:100839494 [GRCh37]
Chr7:100626214 [NCBI36]
Chr7:7q22.1
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1
pathogenic|uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3 copy number gain See cases [RCV000136835] Chr7:101130561..101255628 [GRCh38]
Chr7:100773842..100898909 [GRCh37]
Chr7:100560562..100685629 [NCBI36]
Chr7:7q22.1
benign
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele duplication Congenital plasminogen activator inhibitor type 1 deficiency [RCV000677965] Chr7:100730280..100853730 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1
likely pathogenic
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160) copy number loss not specified [RCV002053712] Chr7:100676872..119156160 [GRCh37]
Chr7:7q22.1-31.31
pathogenic
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1
pathogenic
NC_000007.13:g.(?_98983338)_(100860555_?)del deletion not provided [RCV001877526] Chr7:98983338..100860555 [GRCh37]
Chr7:7q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23249 AgrOrtholog
COSMIC MOGAT3 COSMIC
Ensembl Genes ENSG00000106384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000223114 ENTREZGENE
  ENSP00000223114.4 UniProtKB/Swiss-Prot
  ENSP00000368734 ENTREZGENE
  ENSP00000368734.3 UniProtKB/Swiss-Prot
  ENSP00000403756 ENTREZGENE
  ENSP00000403756.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000223114 ENTREZGENE
  ENST00000223114.9 UniProtKB/Swiss-Prot
  ENST00000379423 ENTREZGENE
  ENST00000379423.3 UniProtKB/Swiss-Prot
  ENST00000440203 ENTREZGENE
  ENST00000440203.6 UniProtKB/Swiss-Prot
GTEx ENSG00000106384 GTEx
HGNC ID HGNC:23249 ENTREZGENE
Human Proteome Map MOGAT3 Human Proteome Map
InterPro DAGAT UniProtKB/Swiss-Prot
KEGG Report hsa:346606 UniProtKB/Swiss-Prot
NCBI Gene 346606 ENTREZGENE
OMIM 610184 OMIM
Pfam DAGAT UniProtKB/Swiss-Prot
PharmGKB PA134959238 PharmGKB
UniProt MOGT3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q496A6 UniProtKB/Swiss-Prot
  Q496A7 UniProtKB/Swiss-Prot
  Q496A8 UniProtKB/Swiss-Prot
  Q9UDW7 UniProtKB/Swiss-Prot