GGACT (gamma-glutamylamine cyclotransferase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: GGACT (gamma-glutamylamine cyclotransferase) Homo sapiens
Analyze
Symbol: GGACT
Name: gamma-glutamylamine cyclotransferase
RGD ID: 2299985
HGNC Page HGNC:25100
Description: Enables gamma-glutamylaminecyclotransferase activity. Involved in cellular modified amino acid catabolic process. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A2LD1; AIG2-like domain 1; AIG2-like domain-containing protein 1; gamma-glutamylaminecyclotransferase
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
GRCh3813100,530,180 - 100,588,789 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13100,530,164 - 100,589,528 (-)EnsemblGRCh38hg38GRCh38
GRCh3713101,182,434 - 101,241,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361399,980,002 - 99,987,974 (-)NCBINCBI36Build 36hg18NCBI36
Celera1382,026,987 - 82,085,620 (-)NCBICelera
Cytogenetic Map13q32.3NCBI
HuRef1381,778,487 - 81,837,097 (-)NCBIHuRef
CHM1_113101,152,717 - 101,211,314 (-)NCBICHM1_1
T2T-CHM13v2.01399,745,466 - 99,804,072 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease 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:12477932   PMID:14702039   PMID:16344560   PMID:20110353   PMID:21873635   PMID:23376485   PMID:23533145   PMID:25416956   PMID:28514442   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
GGACT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813100,530,180 - 100,588,789 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13100,530,164 - 100,589,528 (-)EnsemblGRCh38hg38GRCh38
GRCh3713101,182,434 - 101,241,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361399,980,002 - 99,987,974 (-)NCBINCBI36Build 36hg18NCBI36
Celera1382,026,987 - 82,085,620 (-)NCBICelera
Cytogenetic Map13q32.3NCBI
HuRef1381,778,487 - 81,837,097 (-)NCBIHuRef
CHM1_113101,152,717 - 101,211,314 (-)NCBICHM1_1
T2T-CHM13v2.01399,745,466 - 99,804,072 (-)NCBIT2T-CHM13v2.0
Ggact
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914123,128,272 - 123,151,173 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14123,053,635 - 123,151,169 (-)EnsemblGRCm39 Ensembl
GRCm3814122,890,860 - 122,913,413 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14122,816,223 - 122,913,757 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714123,290,082 - 123,312,387 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614122,026,054 - 122,048,315 (-)NCBIMGSCv36mm8
Celera14121,449,204 - 121,471,425 (-)NCBICelera
Cytogenetic Map14E5NCBI
cM Map1466.04NCBI
Ggact
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr815106,375,924 - 106,406,649 (-)NCBIGRCr8
mRatBN7.21599,969,246 - 99,998,343 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1599,968,282 - 99,993,455 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx15103,902,683 - 103,926,264 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.015105,001,305 - 105,024,861 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.015101,928,558 - 101,952,113 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.015109,307,683 - 109,336,779 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15109,307,904 - 109,316,953 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015112,688,790 - 112,716,622 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415108,029,945 - 108,053,498 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.115108,045,724 - 108,069,278 (-)NCBI
Celera1598,739,747 - 98,763,312 (-)NCBICelera
Cytogenetic Map15q25NCBI
Ggact
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540410,280,013 - 10,316,531 (+)NCBIChiLan1.0ChiLan1.0
GGACT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214102,039,592 - 102,113,988 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113100,689,407 - 100,781,473 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01381,678,715 - 81,757,024 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113100,837,605 - 100,895,588 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13100,839,483 - 100,839,944 (-)Ensemblpanpan1.1panPan2
GGACT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12250,429,066 - 50,471,624 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2250,429,190 - 50,470,657 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2250,209,180 - 50,251,705 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02250,871,064 - 50,913,818 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2250,871,200 - 50,914,106 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12250,517,921 - 50,560,440 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02250,554,164 - 50,596,796 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02250,591,542 - 50,634,058 (-)NCBIUU_Cfam_GSD_1.0
Ggact
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945185,782,552 - 185,824,920 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647210,127,470 - 10,166,552 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647210,127,305 - 10,167,543 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GGACT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11169,287,685 - 69,349,540 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21176,548,815 - 76,611,833 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GGACT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1379,139,506 - 79,213,496 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl379,157,780 - 79,158,241 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604635,643,631 - 35,720,457 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ggact
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479310,677,662 - 10,690,034 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479310,655,447 - 10,691,334 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GGACT
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1 copy number loss See cases [RCV000051420] Chr13:99034367..101217397 [GRCh38]
Chr13:99686621..101869748 [GRCh37]
Chr13:98484622..100667749 [NCBI36]
Chr13:13q32.3-33.1		 pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
NM_001195087.1(GGACT):c.-11+19682C>T single nucleotide variant Lung cancer [RCV000097592] Chr13:100564143 [GRCh38]
Chr13:101216397 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_001195087.1(GGACT):c.-11+16506A>G single nucleotide variant Lung cancer [RCV000097593] Chr13:100567319 [GRCh38]
Chr13:101219573 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_001195087.1(GGACT):c.-11+4342G>A single nucleotide variant Lung cancer [RCV000097594] Chr13:100579483 [GRCh38]
Chr13:101231737 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3 copy number gain See cases [RCV000133986] Chr13:98008015..103697232 [GRCh38]
Chr13:98660269..104349582 [GRCh37]
Chr13:97458270..103147583 [NCBI36]
Chr13:13q32.2-33.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3		 pathogenic
GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 copy number loss See cases [RCV000138024] Chr13:97213871..109162916 [GRCh38]
Chr13:97866125..109815264 [GRCh37]
Chr13:96664126..108613265 [NCBI36]
Chr13:13q32.1-33.3		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_000282.4(PCCA):c.*190C>G single nucleotide variant Propionic acidemia [RCV000375316] Chr13:100530356 [GRCh38]
Chr13:101182610 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_000282.4(PCCA):c.*190C>T single nucleotide variant Propionic acidemia [RCV000278540] Chr13:100530356 [GRCh38]
Chr13:101182610 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_000282.4(PCCA):c.*57_*60del deletion Propionic acidemia [RCV000266681]|not provided [RCV001562126] Chr13:100530223..100530226 [GRCh38]
Chr13:101182477..101182480 [GRCh37]
Chr13:13q32.3		 likely benign
NM_000282.4(PCCA):c.*115C>T single nucleotide variant Propionic acidemia [RCV000324179]|not provided [RCV004703649] Chr13:100530281 [GRCh38]
Chr13:101182535 [GRCh37]
Chr13:13q32.3		 likely benign|uncertain significance
NM_000282.4(PCCA):c.*159T>G single nucleotide variant Propionic acidemia [RCV000318390] Chr13:100530325 [GRCh38]
Chr13:101182579 [GRCh37]
Chr13:13q32.3		 likely benign|uncertain significance
NM_000282.4(PCCA):c.*158dup duplication Propionic acidemia [RCV000284281]|not provided [RCV001725162] Chr13:100530318..100530319 [GRCh38]
Chr13:101182572..101182573 [GRCh37]
Chr13:13q32.3		 benign|likely benign
NM_000282.4(PCCA):c.*116G>A single nucleotide variant Propionic acidemia [RCV000376359] Chr13:100530282 [GRCh38]
Chr13:101182536 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3 copy number gain See cases [RCV000510477] Chr13:98158452..101950563 [GRCh37]
Chr13:13q32.1-33.1		 likely pathogenic
GRCh37/hg19 13q32.3-33.1(chr13:100016737-101862895)x1 copy number loss See cases [RCV000510641] Chr13:100016737..101862895 [GRCh37]
Chr13:13q32.3-33.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3 copy number gain See cases [RCV000510620] Chr13:98607855..104370539 [GRCh37]
Chr13:13q32.2-33.1		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q32.3(chr13:101217779-101405983)x3 copy number gain not provided [RCV000738358] Chr13:101217779..101405983 [GRCh37]
Chr13:13q32.3		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NC_000013.11:g.100530455TGAA[1] microsatellite not provided [RCV001534976] Chr13:100530455..100530458 [GRCh38]
Chr13:101182709..101182712 [GRCh37]
Chr13:13q32.3		 benign
NC_000013.11:g.(?_100527665)_(100530447_?)del deletion Propionic acidemia [RCV000814629] Chr13:100527665..100530447 [GRCh38]
Chr13:101179919..101182701 [GRCh37]
Chr13:13q32.3		 pathogenic
GRCh37/hg19 13q32.3(chr13:101112100-101651091)x3 copy number gain not provided [RCV000848968] Chr13:101112100..101651091 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 uncertain significance
GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1 copy number loss not provided [RCV001006589] Chr13:96240346..106103782 [GRCh37]
Chr13:13q32.1-33.2		 pathogenic
NM_000282.4(PCCA):c.*34A>C single nucleotide variant Propionic acidemia [RCV001115145] Chr13:100530200 [GRCh38]
Chr13:101182454 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_000282.4(PCCA):c.*91A>G single nucleotide variant Propionic acidemia [RCV001115146] Chr13:100530257 [GRCh38]
Chr13:101182511 [GRCh37]
Chr13:13q32.3		 uncertain significance
NC_000013.11:g.(?_100527655)_(100530186_?)del deletion Propionic acidemia [RCV001032375] Chr13:101179909..101182440 [GRCh37]
Chr13:13q32.3		 pathogenic
GRCh37/hg19 13q32.3(chr13:101167705-101275126)x1 copy number loss not provided [RCV001006594] Chr13:101167705..101275126 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
NM_000282.4(PCCA):c.*223T>G single nucleotide variant Propionic acidemia [RCV001109516] Chr13:100530389 [GRCh38]
Chr13:101182643 [GRCh37]
Chr13:13q32.3		 uncertain significance
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34		 pathogenic
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1		 pathogenic
NC_000013.10:g.(?_101077867)_(101182440_?)dup duplication Propionic acidemia [RCV001344969] Chr13:101077867..101182440 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NC_000013.10:g.99162946_101376965del deletion Lobar holoprosencephaly [RCV001847319] Chr13:99162946..101376965 [GRCh37]
Chr13:13q32.2-32.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q32.3(chr13:101167705-101265053) copy number loss not specified [RCV002053079] Chr13:101167705..101265053 [GRCh37]
Chr13:13q32.3		 likely pathogenic
NC_000013.10:g.(?_101179909)_(101182420_?)del deletion Propionic acidemia [RCV001951325] Chr13:101179909..101182420 [GRCh37]
Chr13:13q32.3		 pathogenic
NC_000013.10:g.(?_101167671)_(101182701_?)del deletion Propionic acidemia [RCV001960759] Chr13:101167671..101182701 [GRCh37]
Chr13:13q32.3		 pathogenic
NC_000013.10:g.(?_99336978)_(102379160_?)del deletion Holoprosencephaly 5 [RCV003109612] Chr13:99336978..102379160 [GRCh37]
Chr13:13q32.3-33.1		 pathogenic
NC_000013.10:g.(?_100741375)_(101182420_?)del deletion Propionic acidemia [RCV003110930] Chr13:100741375..101182420 [GRCh37]
Chr13:13q32.3		 pathogenic
NC_000013.10:g.(?_100038233)_(103718599_?)dup duplication Holoprosencephaly 5 [RCV003110940]|Propionic acidemia [RCV003110939]|not provided [RCV003122284] Chr13:100038233..103718599 [GRCh37]
Chr13:13q32.3-33.1		 uncertain significance|no classifications from unflagged records
NC_000013.10:g.(?_101077867)_(101182420_?)dup duplication Propionic acidemia [RCV003110942] Chr13:101077867..101182420 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1 copy number loss not provided [RCV002473790] Chr13:100334135..110383902 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1 copy number loss not provided [RCV002473593] Chr13:93535335..105788229 [GRCh37]
Chr13:13q31.3-33.2		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3 copy number gain not provided [RCV002475671] Chr13:99421603..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_001195087.2(GGACT):c.137G>A (p.Gly46Glu) single nucleotide variant not specified [RCV004257466] Chr13:100532455 [GRCh38]
Chr13:101184709 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3 copy number gain See cases [RCV003159553] Chr13:95700999..105271065 [GRCh37]
Chr13:13q32.1-33.2		 pathogenic
NM_001195087.2(GGACT):c.134C>T (p.Ala45Val) single nucleotide variant not specified [RCV004272869] Chr13:100532458 [GRCh38]
Chr13:101184712 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1 copy number loss Holoprosencephaly 5 [RCV003327700] Chr13:98343655..110990677 [GRCh38]
Chr13:13q32.2-34		 pathogenic
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1 copy number loss not provided [RCV003483195] Chr13:89012420..106371634 [GRCh37]
Chr13:13q31.2-33.2		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1 copy number loss not provided [RCV004442778] Chr13:98773859..109277603 [GRCh37]
Chr13:13q32.2-33.3		 pathogenic
NM_001195087.2(GGACT):c.334A>G (p.Thr112Ala) single nucleotide variant not specified [RCV004390409] Chr13:100532258 [GRCh38]
Chr13:101184512 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_001195087.2(GGACT):c.22G>A (p.Gly8Ser) single nucleotide variant not specified [RCV004390408] Chr13:100532570 [GRCh38]
Chr13:101184824 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_001195087.2(GGACT):c.379G>A (p.Glu127Lys) single nucleotide variant not specified [RCV004390411] Chr13:100532213 [GRCh38]
Chr13:101184467 [GRCh37]
Chr13:13q32.3		 uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3 copy number gain not provided [RCV004577499] Chr13:99892724..115108414 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_001195087.2(GGACT):c.374C>T (p.Pro125Leu) single nucleotide variant not specified [RCV004390410] Chr13:100532218 [GRCh38]
Chr13:101184472 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_001195087.2(GGACT):c.59T>A (p.Leu20Gln) single nucleotide variant not specified [RCV004390412] Chr13:100532533 [GRCh38]
Chr13:101184787 [GRCh37]
Chr13:13q32.3		 uncertain significance
NM_001195087.2(GGACT):c.100G>A (p.Gly34Ser) single nucleotide variant not specified [RCV004626988] Chr13:100532492 [GRCh38]
Chr13:101184746 [GRCh37]
Chr13:13q32.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1997
Count of miRNA genes:531
Interacting mature miRNAs:575
Transcripts:ENST00000376250, ENST00000455100, ENST00000464500, ENST00000467518, ENST00000471912, ENST00000492399
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406905059GWAS554035_Hrefractive error QTL GWAS554035 (human)8e-15refractive error13100570855100570856Human
406926343GWAS575319_HX-23593 measurement QTL GWAS575319 (human)6e-15X-23593 measurement13100549098100549099Human
407324160GWAS973136_Hbody height QTL GWAS973136 (human)3e-09body height (VT:0001253)body height (CMO:0000106)13100553174100553175Human
407345068GWAS994044_Hbody height QTL GWAS994044 (human)6e-12body height (VT:0001253)body height (CMO:0000106)13100571205100571206Human
407313067GWAS962043_HX-23593 measurement QTL GWAS962043 (human)6e-15X-23593 measurement13100536833100536834Human
407164968GWAS813944_Hcardiac troponin T measurement QTL GWAS813944 (human)0.0000006cardiac troponin T measurementblood troponin T level (CMO:0001284)13100541451100541452Human
406926349GWAS575325_HX-23593 measurement QTL GWAS575325 (human)1e-14X-23593 measurement13100562121100562122Human
2289426BW213_HBody weight QTL 213 (human)2.780.0002Body weightBMI1384267977110267977Human
407133398GWAS782374_HAlzheimer disease, age at onset QTL GWAS782374 (human)0.0000009Alzheimer disease, age at onset13100558935100558936Human
407101847GWAS750823_Hpeak expiratory flow QTL GWAS750823 (human)4e-09peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)13100585000100585001Human
407234322GWAS883298_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS883298 (human)8e-11attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement13100560046100560047Human
407136211GWAS785187_Hinterleukin 10 measurement, response to stimulus QTL GWAS785187 (human)0.0000002interleukin 10 measurement, response to stimulus13100567953100567954Human
406906519GWAS555495_Hsmoking initiation QTL GWAS555495 (human)2e-18smoking initiation13100580324100580325Human
2289433BW340_HBody weight QTL 340 (human)3.11Body morphometrywaist circumference1384267977110267977Human
407208217GWAS857193_Hsmoking status measurement QTL GWAS857193 (human)6e-13smoking status measurement13100537450100537451Human

Markers in Region
SHGC-12499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713101,182,424 - 101,182,685UniSTSGRCh37
Build 361399,980,425 - 99,980,686RGDNCBI36
Celera1382,026,993 - 82,027,254RGD
Cytogenetic Map13q32UniSTS
Cytogenetic Map13q32.3UniSTS
HuRef1381,778,493 - 81,778,754UniSTS
Marshfield Genetic Map1381.64UniSTS
GeneMap99-GB4 RH Map13282.82UniSTS
Whitehead-RH Map13273.8UniSTS
Whitehead-YAC Contig Map13 UniSTS
GeneMap99-G3 RH Map133167.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2428 2788 2242 4935 1722 2343 4 622 1936 464 2267 7271 6445 51 3702 846 1731 1610 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001195087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK091974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA628207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000376250   ⟹   ENSP00000365426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,530,183 - 100,583,997 (-)Ensembl
Ensembl Acc Id: ENST00000455100   ⟹   ENSP00000410449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,530,164 - 100,533,802 (-)Ensembl
Ensembl Acc Id: ENST00000464500   ⟹   ENSP00000471322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,532,514 - 100,533,653 (-)Ensembl
Ensembl Acc Id: ENST00000467518   ⟹   ENSP00000472246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,532,495 - 100,533,669 (-)Ensembl
Ensembl Acc Id: ENST00000471912   ⟹   ENSP00000471716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,532,514 - 100,588,731 (-)Ensembl
Ensembl Acc Id: ENST00000492399   ⟹   ENSP00000471342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,532,495 - 100,589,528 (-)Ensembl
Ensembl Acc Id: ENST00000683975   ⟹   ENSP00000508020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13100,530,180 - 100,588,789 (-)Ensembl
RefSeq Acc Id: NM_001195087   ⟹   NP_001182016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,530,180 - 100,588,789 (-)NCBI
GRCh3713101,182,418 - 101,241,046 (-)RGD
Celera1382,026,987 - 82,085,620 (-)RGD
HuRef1381,778,487 - 81,837,097 (-)ENTREZGENE
CHM1_113101,152,717 - 101,211,314 (-)NCBI
T2T-CHM13v2.01399,745,466 - 99,804,072 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033110   ⟹   NP_149101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,530,180 - 100,533,802 (-)NCBI
GRCh3713101,182,418 - 101,241,046 (-)RGD
Celera1382,026,987 - 82,085,620 (-)RGD
HuRef1381,778,487 - 81,837,097 (-)ENTREZGENE
CHM1_113101,152,717 - 101,156,351 (-)NCBI
T2T-CHM13v2.01399,745,466 - 99,749,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521129   ⟹   XP_011519431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,530,180 - 100,540,274 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430708   ⟹   XP_047286664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,530,180 - 100,588,789 (-)NCBI
RefSeq Acc Id: XM_054375079   ⟹   XP_054231054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01399,745,466 - 99,755,099 (-)NCBI
RefSeq Acc Id: XM_054375080   ⟹   XP_054231055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01399,745,466 - 99,804,007 (-)NCBI
RefSeq Acc Id: NP_001182016   ⟸   NM_001195087
- UniProtKB: B3KTN1 (UniProtKB/Swiss-Prot),   Q9BT41 (UniProtKB/Swiss-Prot),   Q9BVM4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_149101   ⟸   NM_033110
- UniProtKB: B3KTN1 (UniProtKB/Swiss-Prot),   Q9BT41 (UniProtKB/Swiss-Prot),   Q9BVM4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519431   ⟸   XM_011521129
- Peptide Label: isoform X1
- UniProtKB: B3KTN1 (UniProtKB/Swiss-Prot),   Q9BT41 (UniProtKB/Swiss-Prot),   Q9BVM4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000471322   ⟸   ENST00000464500
Ensembl Acc Id: ENSP00000471342   ⟸   ENST00000492399
Ensembl Acc Id: ENSP00000472246   ⟸   ENST00000467518
Ensembl Acc Id: ENSP00000410449   ⟸   ENST00000455100
Ensembl Acc Id: ENSP00000365426   ⟸   ENST00000376250
Ensembl Acc Id: ENSP00000471716   ⟸   ENST00000471912
Ensembl Acc Id: ENSP00000508020   ⟸   ENST00000683975
RefSeq Acc Id: XP_047286664   ⟸   XM_047430708
- Peptide Label: isoform X1
- UniProtKB: Q9BVM4 (UniProtKB/Swiss-Prot),   B3KTN1 (UniProtKB/Swiss-Prot),   Q9BT41 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054231055   ⟸   XM_054375080
- Peptide Label: isoform X1
- UniProtKB: Q9BVM4 (UniProtKB/Swiss-Prot),   B3KTN1 (UniProtKB/Swiss-Prot),   Q9BT41 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054231054   ⟸   XM_054375079
- Peptide Label: isoform X1
- UniProtKB: Q9BVM4 (UniProtKB/Swiss-Prot),   B3KTN1 (UniProtKB/Swiss-Prot),   Q9BT41 (UniProtKB/Swiss-Prot)
Protein Domains
Gamma-glutamylcyclotransferase AIG2-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVM4-F1-model_v2 AlphaFold Q9BVM4 1-153 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25100 AgrOrtholog
COSMIC GGACT COSMIC
Ensembl Genes ENSG00000134864 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376250.6 UniProtKB/Swiss-Prot
  ENST00000455100 ENTREZGENE
  ENST00000455100.2 UniProtKB/Swiss-Prot
  ENST00000464500.5 UniProtKB/TrEMBL
  ENST00000467518.5 UniProtKB/TrEMBL
  ENST00000471912.1 UniProtKB/TrEMBL
  ENST00000492399.5 UniProtKB/TrEMBL
  ENST00000683975 ENTREZGENE
  ENST00000683975.1 UniProtKB/Swiss-Prot
Gene3D-CATH Gamma-glutamyl cyclotransferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134864 GTEx
HGNC ID HGNC:25100 ENTREZGENE
Human Proteome Map GGACT Human Proteome Map
InterPro AIG2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GGACT UniProtKB/Swiss-Prot
  GGCT-like UniProtKB/Swiss-Prot
  GGCT-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:87769 UniProtKB/Swiss-Prot
NCBI Gene 87769 ENTREZGENE
OMIM 613378 OMIM
PANTHER GAMMA-GLUTAMYLAMINECYCLOTRANSFERASE UniProtKB/Swiss-Prot
  PTHR12510 UniProtKB/Swiss-Prot
Pfam GGACT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164714645 PharmGKB
Superfamily-SCOP SSF110857 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KTN1 ENTREZGENE
  GGACT_HUMAN UniProtKB/Swiss-Prot
  M0R0M3_HUMAN UniProtKB/TrEMBL
  M0R217_HUMAN UniProtKB/TrEMBL
  Q9BT41 ENTREZGENE
  Q9BVM4 ENTREZGENE
UniProt Secondary B3KTN1 UniProtKB/Swiss-Prot
  Q9BT41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-02 GGACT  gamma-glutamylamine cyclotransferase  A2LD1  AIG2-like domain 1  Symbol and/or name change 5135510 APPROVED