POGLUT2 (protein O-glucosyltransferase 2) - Rat Genome Database

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Gene: POGLUT2 (protein O-glucosyltransferase 2) Homo sapiens
Analyze
Symbol: POGLUT2
Name: protein O-glucosyltransferase 2
RGD ID: 1312273
HGNC Page HGNC:19350
Description: Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endoplasmic reticulum resident protein 58; EP58; ER protein 58; ERp58; KDEL (Lys-Asp-Glu-Leu) containing 1; KDEL motif containing 1; KDEL motif-containing 1; KDEL motif-containing protein 1; KDEL1; KDELC1; MGC5302
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: POGLUT2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813102,784,281 - 102,798,976 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13102,784,281 - 102,799,040 (-)EnsemblGRCh38hg38GRCh38
GRCh3713103,436,631 - 103,451,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613102,234,632 - 102,249,358 (-)NCBINCBI36Build 36hg18NCBI36
Build 3413102,234,632 - 102,249,358NCBI
Celera1384,281,120 - 84,295,885 (-)NCBICelera
Cytogenetic Map13q33.1NCBI
HuRef1384,028,978 - 84,043,745 (-)NCBIHuRef
CHM1_113103,406,079 - 103,420,850 (-)NCBICHM1_1
T2T-CHM13v2.013102,002,466 - 102,017,152 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11167020   PMID:12477932   PMID:12975309   PMID:15057823   PMID:15489334   PMID:15635705   PMID:16344560   PMID:19490893   PMID:21145461   PMID:21873635   PMID:26186194  
PMID:26496610   PMID:28514442   PMID:30021884   PMID:30127001   PMID:30196744   PMID:30249898   PMID:30997501   PMID:32353859   PMID:33060197   PMID:33545068   PMID:33961781   PMID:34079125  
PMID:34411563   PMID:34597346   PMID:35384245   PMID:35696571   PMID:36215168   PMID:36736316   PMID:37827155  


Genomics

Comparative Map Data
POGLUT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813102,784,281 - 102,798,976 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13102,784,281 - 102,799,040 (-)EnsemblGRCh38hg38GRCh38
GRCh3713103,436,631 - 103,451,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613102,234,632 - 102,249,358 (-)NCBINCBI36Build 36hg18NCBI36
Build 3413102,234,632 - 102,249,358NCBI
Celera1384,281,120 - 84,295,885 (-)NCBICelera
Cytogenetic Map13q33.1NCBI
HuRef1384,028,978 - 84,043,745 (-)NCBIHuRef
CHM1_113103,406,079 - 103,420,850 (-)NCBICHM1_1
T2T-CHM13v2.013102,002,466 - 102,017,152 (-)NCBIT2T-CHM13v2.0
Poglut2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39144,143,060 - 44,158,844 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl144,145,706 - 44,157,968 (-)EnsemblGRCm39 Ensembl
GRCm38144,106,546 - 44,118,880 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl144,106,546 - 44,118,808 (-)EnsemblGRCm38mm10GRCm38
MGSCv37144,163,391 - 44,175,618 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36144,051,092 - 44,063,319 (-)NCBIMGSCv36mm8
Celera144,449,999 - 44,462,220 (-)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map123.54NCBI
Poglut2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8953,748,484 - 53,801,453 (-)NCBIGRCr8
mRatBN7.2946,256,388 - 46,268,714 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl946,256,390 - 46,268,532 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx954,771,869 - 54,783,977 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0959,894,669 - 59,906,773 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0958,174,906 - 58,187,013 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0950,872,492 - 50,884,596 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl950,872,492 - 50,884,596 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0950,539,453 - 50,551,557 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4943,194,771 - 43,207,358 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1943,196,186 - 43,208,615 (-)NCBI
Celera943,960,103 - 43,972,186 (-)NCBICelera
Cytogenetic Map9q22NCBI
Poglut2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554048,358,542 - 8,374,328 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554048,358,542 - 8,374,216 (+)NCBIChiLan1.0ChiLan1.0
POGLUT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214104,301,616 - 104,316,338 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113102,971,156 - 102,985,819 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01383,944,645 - 83,959,313 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113103,081,650 - 103,096,378 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13103,081,650 - 103,096,378 (-)Ensemblpanpan1.1panPan2
POGLUT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12252,274,616 - 52,295,981 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2252,146,466 - 52,372,304 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2252,063,032 - 52,075,652 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02252,731,044 - 52,743,677 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2252,731,047 - 52,743,646 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12252,383,586 - 52,396,199 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02252,399,690 - 52,412,325 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02252,440,895 - 52,453,529 (-)NCBIUU_Cfam_GSD_1.0
Poglut2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945187,666,770 - 187,678,684 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364728,273,497 - 8,286,494 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364728,273,517 - 8,285,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POGLUT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1171,094,223 - 71,110,396 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11171,095,116 - 71,110,490 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21178,386,611 - 78,496,441 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POGLUT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1381,338,288 - 81,360,736 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl381,331,614 - 81,360,706 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604637,875,275 - 37,897,718 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Poglut2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247938,698,617 - 8,711,241 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247938,698,481 - 8,711,151 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in POGLUT2
13 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 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34		 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 13q33.1(chr13:102516631-102862008)x3 copy number gain See cases [RCV000052032] Chr13:102516631..102862008 [GRCh38]
Chr13:103168981..103514358 [GRCh37]
Chr13:101966982..102312359 [NCBI36]
Chr13:13q33.1		 uncertain significance
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 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
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 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34		 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 13q32.3-33.2(chr13:101095590-105074548)x1 copy number loss See cases [RCV000138999] Chr13:101095590..105074548 [GRCh38]
Chr13:101747941..105726899 [GRCh37]
Chr13:100545942..104524900 [NCBI36]
Chr13:13q32.3-33.2		 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 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34		 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 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
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 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q33.1(chr13:103441541-103493212)x3 copy number gain See cases [RCV000449202] Chr13:103441541..103493212 [GRCh37]
Chr13:13q33.1		 uncertain significance
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 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q33.1(chr13:103219511-103513884)x3 copy number gain See cases [RCV000445961] Chr13:103219511..103513884 [GRCh37]
Chr13:13q33.1		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 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 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34		 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 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
NM_024089.3(POGLUT2):c.196C>G (p.Pro66Ala) single nucleotide variant not specified [RCV004299318] Chr13:102796996 [GRCh38]
Chr13:103449346 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.548T>A (p.Phe183Tyr) single nucleotide variant not specified [RCV004289496] Chr13:102793647 [GRCh38]
Chr13:103445997 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1025A>G (p.His342Arg) single nucleotide variant not specified [RCV004298951] Chr13:102790959 [GRCh38]
Chr13:103443309 [GRCh37]
Chr13:13q33.1		 uncertain significance
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 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 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 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 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34		 pathogenic
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
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 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 13q32.3-34(chr13:100334135-110383902)x1 copy number loss not provided [RCV002473790] Chr13:100334135..110383902 [GRCh37]
Chr13:13q32.3-34		 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
GRCh37/hg19 13q33.1(chr13:103110523-103542410)x3 copy number gain not provided [RCV001006596] Chr13:103110523..103542410 [GRCh37]
Chr13:13q33.1		 uncertain significance
GRCh37/hg19 13q33.1(chr13:102424990-104002717)x3 copy number gain not provided [RCV001006595] Chr13:102424990..104002717 [GRCh37]
Chr13:13q33.1		 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
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34		 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 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 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 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 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 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 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 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 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 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.(?_102521055)_(103718599_?)del deletion Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency [RCV003113250] Chr13:102521055..103718599 [GRCh37]
Chr13:13q33.1		 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 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 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 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_024089.3(POGLUT2):c.868G>A (p.Val290Met) single nucleotide variant not specified [RCV004251619] Chr13:102791116 [GRCh38]
Chr13:103443466 [GRCh37]
Chr13:13q33.1		 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_024089.3(POGLUT2):c.1391C>G (p.Ala464Gly) single nucleotide variant not specified [RCV004312820] Chr13:102786332 [GRCh38]
Chr13:103438682 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.246C>G (p.Phe82Leu) single nucleotide variant not specified [RCV004252241] Chr13:102796946 [GRCh38]
Chr13:103449296 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.275G>A (p.Arg92Gln) single nucleotide variant not specified [RCV004259647] Chr13:102796917 [GRCh38]
Chr13:103449267 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.889C>T (p.Pro297Ser) single nucleotide variant not specified [RCV004267601] Chr13:102791095 [GRCh38]
Chr13:103443445 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.826G>A (p.Val276Ile) single nucleotide variant not specified [RCV004260660] Chr13:102791277 [GRCh38]
Chr13:103443627 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.461C>T (p.Pro154Leu) single nucleotide variant not specified [RCV004290144] Chr13:102793734 [GRCh38]
Chr13:103446084 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1040A>G (p.Tyr347Cys) single nucleotide variant not specified [RCV004328637] Chr13:102790944 [GRCh38]
Chr13:103443294 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.202G>A (p.Glu68Lys) single nucleotide variant not specified [RCV004299956] Chr13:102796990 [GRCh38]
Chr13:103449340 [GRCh37]
Chr13:13q33.1		 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
NM_024089.3(POGLUT2):c.674T>C (p.Val225Ala) single nucleotide variant not specified [RCV004355731] Chr13:102791429 [GRCh38]
Chr13:103443779 [GRCh37]
Chr13:13q33.1		 uncertain significance
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 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 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_024089.3(POGLUT2):c.233C>A (p.Pro78Gln) single nucleotide variant not specified [RCV004512124] Chr13:102796959 [GRCh38]
Chr13:103449309 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.295G>T (p.Val99Leu) single nucleotide variant not specified [RCV004512126] Chr13:102796897 [GRCh38]
Chr13:103449247 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.344A>G (p.Lys115Arg) single nucleotide variant not specified [RCV004512127] Chr13:102796848 [GRCh38]
Chr13:103449198 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.8G>A (p.Gly3Asp) single nucleotide variant not specified [RCV004512132] Chr13:102798663 [GRCh38]
Chr13:103451013 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.916G>A (p.Val306Ile) single nucleotide variant not specified [RCV004512133] Chr13:102791068 [GRCh38]
Chr13:103443418 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1436G>T (p.Arg479Met) single nucleotide variant not specified [RCV004512119] Chr13:102786287 [GRCh38]
Chr13:103438637 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.392C>T (p.Pro131Leu) single nucleotide variant not specified [RCV004512128] Chr13:102793803 [GRCh38]
Chr13:103446153 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.899G>A (p.Ser300Asn) single nucleotide variant not specified [RCV004512131] Chr13:102791085 [GRCh38]
Chr13:103443435 [GRCh37]
Chr13:13q33.1		 uncertain significance
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1 copy number loss not specified [RCV003987029] Chr13:103149209..115107733 [GRCh37]
Chr13:13q33.1-34		 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 13q33.1-34(chr13:102421732-115107733)x1 copy number loss not specified [RCV003987036] Chr13:102421732..115107733 [GRCh37]
Chr13:13q33.1-34		 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
NM_024089.3(POGLUT2):c.1289A>C (p.Glu430Ala) single nucleotide variant not specified [RCV004512116] Chr13:102789016 [GRCh38]
Chr13:103441366 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1223A>G (p.Tyr408Cys) single nucleotide variant not specified [RCV004512114] Chr13:102789082 [GRCh38]
Chr13:103441432 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1289A>G (p.Glu430Gly) single nucleotide variant not specified [RCV004512117] Chr13:102789016 [GRCh38]
Chr13:103441366 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.952G>A (p.Glu318Lys) single nucleotide variant not specified [RCV004512134] Chr13:102791032 [GRCh38]
Chr13:103443382 [GRCh37]
Chr13:13q33.1		 uncertain significance
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_024089.3(POGLUT2):c.1072G>T (p.Asp358Tyr) single nucleotide variant not specified [RCV004512111] Chr13:102790912 [GRCh38]
Chr13:103443262 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1085A>G (p.His362Arg) single nucleotide variant not specified [RCV004512112] Chr13:102789220 [GRCh38]
Chr13:103441570 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.196C>T (p.Pro66Ser) single nucleotide variant not specified [RCV004512121] Chr13:102796996 [GRCh38]
Chr13:103449346 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.827T>C (p.Val276Ala) single nucleotide variant not specified [RCV004512129] Chr13:102791276 [GRCh38]
Chr13:103443626 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1145T>C (p.Val382Ala) single nucleotide variant not specified [RCV004512113] Chr13:102789160 [GRCh38]
Chr13:103441510 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1459G>A (p.Asp487Asn) single nucleotide variant not specified [RCV004512120] Chr13:102786264 [GRCh38]
Chr13:103438614 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.22T>C (p.Tyr8His) single nucleotide variant not specified [RCV004512123] Chr13:102798649 [GRCh38]
Chr13:103450999 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1268A>C (p.Lys423Thr) single nucleotide variant not specified [RCV004512115] Chr13:102789037 [GRCh38]
Chr13:103441387 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.1394A>G (p.Asn465Ser) single nucleotide variant not specified [RCV004512118] Chr13:102786329 [GRCh38]
Chr13:103438679 [GRCh37]
Chr13:13q33.1		 likely benign
NM_024089.3(POGLUT2):c.290T>A (p.Phe97Tyr) single nucleotide variant not specified [RCV004512125] Chr13:102796902 [GRCh38]
Chr13:103449252 [GRCh37]
Chr13:13q33.1		 uncertain significance
NM_024089.3(POGLUT2):c.864G>A (p.Met288Ile) single nucleotide variant not specified [RCV004512130] Chr13:102791120 [GRCh38]
Chr13:103443470 [GRCh37]
Chr13:13q33.1		 uncertain significance
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 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 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:530
Count of miRNA genes:342
Interacting mature miRNAs:358
Transcripts:ENST00000376004, ENST00000460338, ENST00000484943, ENST00000486540
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.

Markers in Region
D13S1028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713103,449,993 - 103,450,144UniSTSGRCh37
Build 3613102,247,994 - 102,248,145RGDNCBI36
Celera1384,294,474 - 84,294,625RGD
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map13q33UniSTS
HuRef1384,042,334 - 84,042,485UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 145 459 120 77 313 78 452 90 178 186 471 304 9 136 146 3
Low 2293 1838 1598 544 822 384 3595 1783 3472 231 988 1303 166 1 1068 2339 2 2
Below cutoff 651 8 3 698 3 307 322 84 2 1 4 303 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK074974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051860 (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
  DA885954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB204842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376004   ⟹   ENSP00000365172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,281 - 102,798,976 (-)Ensembl
RefSeq Acc Id: ENST00000460338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,284 - 102,798,914 (-)Ensembl
RefSeq Acc Id: ENST00000484943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,287 - 102,791,278 (-)Ensembl
RefSeq Acc Id: ENST00000486540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,330 - 102,798,993 (-)Ensembl
RefSeq Acc Id: ENST00000706516   ⟹   ENSP00000516427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,301 - 102,799,040 (-)Ensembl
RefSeq Acc Id: ENST00000706517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,325 - 102,798,982 (-)Ensembl
RefSeq Acc Id: ENST00000706518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,336 - 102,798,713 (-)Ensembl
RefSeq Acc Id: ENST00000706519   ⟹   ENSP00000516428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,336 - 102,798,941 (-)Ensembl
RefSeq Acc Id: ENST00000706520   ⟹   ENSP00000516429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,336 - 102,798,993 (-)Ensembl
RefSeq Acc Id: ENST00000706521   ⟹   ENSP00000516430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,784,343 - 102,798,728 (-)Ensembl
RefSeq Acc Id: ENST00000706522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13102,787,267 - 102,798,941 (-)Ensembl
RefSeq Acc Id: NM_001318732   ⟹   NP_001305661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813102,784,281 - 102,798,976 (-)NCBI
CHM1_113103,406,079 - 103,420,850 (-)NCBI
T2T-CHM13v2.013102,002,466 - 102,017,152 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024089   ⟹   NP_076994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813102,784,281 - 102,798,976 (-)NCBI
GRCh3713103,436,631 - 103,451,404 (-)RGD
Build 3613102,234,632 - 102,249,358 (-)NCBI Archive
Celera1384,281,120 - 84,295,885 (-)RGD
HuRef1384,028,978 - 84,043,745 (-)ENTREZGENE
CHM1_113103,406,079 - 103,420,850 (-)NCBI
T2T-CHM13v2.013102,002,466 - 102,017,152 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005254075   ⟹   XP_005254132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813102,784,281 - 102,798,976 (-)NCBI
GRCh3713103,436,631 - 103,451,404 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430604   ⟹   XP_047286560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813102,784,281 - 102,793,420 (-)NCBI
RefSeq Acc Id: XM_054374949   ⟹   XP_054230924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013102,002,466 - 102,017,152 (-)NCBI
RefSeq Acc Id: XM_054374950   ⟹   XP_054230925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013102,002,466 - 102,011,601 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_076994   ⟸   NM_024089
- Peptide Label: isoform 1 precursor
- UniProtKB: Q53HL3 (UniProtKB/Swiss-Prot),   Q9BVD2 (UniProtKB/Swiss-Prot),   Q6UW63 (UniProtKB/Swiss-Prot),   A0A9L9PY35 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005254132   ⟸   XM_005254075
- Peptide Label: isoform X1
- UniProtKB: A0A9L9PXM5 (UniProtKB/TrEMBL),   A0A9L9PY35 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305661   ⟸   NM_001318732
- Peptide Label: isoform 2
- UniProtKB: Q6UW63 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000365172   ⟸   ENST00000376004
RefSeq Acc Id: XP_047286560   ⟸   XM_047430604
- Peptide Label: isoform X2
RefSeq Acc Id: ENSP00000516430   ⟸   ENST00000706521
RefSeq Acc Id: ENSP00000516428   ⟸   ENST00000706519
RefSeq Acc Id: ENSP00000516429   ⟸   ENST00000706520
RefSeq Acc Id: ENSP00000516427   ⟸   ENST00000706516
RefSeq Acc Id: XP_054230924   ⟸   XM_054374949
- Peptide Label: isoform X1
- UniProtKB: A0A9L9PXM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054230925   ⟸   XM_054374950
- Peptide Label: isoform X2
Protein Domains
Glycosyl transferase CAP10

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UW63-F1-model_v2 AlphaFold Q6UW63 1-502 view protein structure

Promoters
RGD ID:6791208
Promoter ID:HG_KWN:18476
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_024089,   OTTHUMT00000045700,   UC001VPR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3613102,249,201 - 102,250,307 (-)MPROMDB
RGD ID:7226769
Promoter ID:EPDNEW_H19127
Type:initiation region
Name:KDELC1_1
Description:KDEL motif containing 1
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
GRCh3813102,798,976 - 102,799,036EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19350 AgrOrtholog
COSMIC POGLUT2 COSMIC
Ensembl Genes ENSG00000134901 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376004 ENTREZGENE
  ENST00000376004.5 UniProtKB/Swiss-Prot
  ENST00000706516.1 UniProtKB/TrEMBL
  ENST00000706519.1 UniProtKB/TrEMBL
  ENST00000706520.1 UniProtKB/TrEMBL
  ENST00000706521 ENTREZGENE
  ENST00000706521.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134901 GTEx
HGNC ID HGNC:19350 ENTREZGENE
Human Proteome Map POGLUT2 Human Proteome Map
InterPro CAP10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filamin/ABP280_repeat-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filamin/ABP280_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79070 UniProtKB/Swiss-Prot
NCBI Gene 79070 ENTREZGENE
OMIM 611613 OMIM
PANTHER KDEL LYS-ASP-GLU-LEU CONTAINING - RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN O-GLUCOSYLTRANSFERASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filamin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134974174 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
  FILAMIN_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CAP10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_FLMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP E set domains UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A9L9PX85_HUMAN UniProtKB/TrEMBL
  A0A9L9PXK3_HUMAN UniProtKB/TrEMBL
  A0A9L9PXM5 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PY35 ENTREZGENE, UniProtKB/TrEMBL
  PLGT2_HUMAN UniProtKB/Swiss-Prot
  Q53HL3 ENTREZGENE
  Q6UW63 ENTREZGENE
  Q9BVD2 ENTREZGENE
UniProt Secondary Q53HL3 UniProtKB/Swiss-Prot
  Q9BVD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 POGLUT2  protein O-glucosyltransferase 2  KDELC1  KDEL motif containing 1  Symbol and/or name change 5135510 APPROVED
2015-12-15 KDELC1  KDEL motif containing 1  KDELC1  KDEL (Lys-Asp-Glu-Leu) containing 1  Symbol and/or name change 5135510 APPROVED