POMP (proteasome maturation protein) - Rat Genome Database

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Gene: POMP (proteasome maturation protein) Homo sapiens
Analyze
Symbol: POMP
Name: proteasome maturation protein
RGD ID: 1314101
HGNC Page HGNC:20330
Description: Involved in proteasome assembly. Located in nuclear speck. Implicated in proteosome-associated autoinflammatory syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2510048O06Rik; C13orf12; chromosome 13 open reading frame 12; HSPC014; hUMP1; PNAS-110; PRAAS2; proteassemblin; protein UMP1 homolog; UMP1; voltage-gated K channel beta subunit 4.1; voltage-gated potassium channel beta subunit 4.1
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
GRCh381328,659,130 - 28,678,959 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1328,659,065 - 28,678,959 (+)EnsemblGRCh38hg38GRCh38
GRCh371329,233,267 - 29,253,096 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361328,131,251 - 28,151,059 (+)NCBINCBI36Build 36hg18NCBI36
Build 341328,131,250 - 28,151,059NCBI
Celera1310,309,014 - 10,328,866 (+)NCBICelera
Cytogenetic Map13q12.3NCBI
HuRef1310,054,960 - 10,074,915 (+)NCBIHuRef
CHM1_11329,201,466 - 29,221,419 (+)NCBICHM1_1
T2T-CHM13v2.01327,882,418 - 27,902,247 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
proteasome assembly  (IBA,IEA,IMP)

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IEA)
endoplasmic reticulum  (IEA)
membrane  (IEA)
nuclear speck  (IDA)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10891394   PMID:10926487   PMID:10973495   PMID:11042152   PMID:12060596   PMID:12477932   PMID:14733938   PMID:15057823   PMID:15489334   PMID:15944226   PMID:16251969   PMID:16624403  
PMID:16751776   PMID:17189198   PMID:17506986   PMID:17948026   PMID:18029348   PMID:18624398   PMID:20226437   PMID:20379614   PMID:20980621   PMID:21145461   PMID:21873635   PMID:22235297  
PMID:22898364   PMID:22939629   PMID:22990118   PMID:23414517   PMID:24080446   PMID:24811749   PMID:25416956   PMID:26145175   PMID:26186194   PMID:26344197   PMID:26483548   PMID:26615982  
PMID:26972000   PMID:27173435   PMID:28514442   PMID:28604741   PMID:28728908   PMID:29568061   PMID:29805043   PMID:30833792   PMID:30862715   PMID:31687947   PMID:32123008   PMID:32296183  
PMID:32425927   PMID:33961781   PMID:34917906   PMID:35271311   PMID:36966971  


Genomics

Comparative Map Data
POMP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381328,659,130 - 28,678,959 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1328,659,065 - 28,678,959 (+)EnsemblGRCh38hg38GRCh38
GRCh371329,233,267 - 29,253,096 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361328,131,251 - 28,151,059 (+)NCBINCBI36Build 36hg18NCBI36
Build 341328,131,250 - 28,151,059NCBI
Celera1310,309,014 - 10,328,866 (+)NCBICelera
Cytogenetic Map13q12.3NCBI
HuRef1310,054,960 - 10,074,915 (+)NCBIHuRef
CHM1_11329,201,466 - 29,221,419 (+)NCBICHM1_1
T2T-CHM13v2.01327,882,418 - 27,902,247 (+)NCBIT2T-CHM13v2.0
Pomp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395147,797,438 - 147,812,594 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5147,797,271 - 147,813,266 (+)EnsemblGRCm39 Ensembl
GRCm385147,860,628 - 147,875,784 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5147,860,461 - 147,876,456 (+)EnsemblGRCm38mm10GRCm38
MGSCv375148,672,204 - 148,687,354 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365148,170,977 - 148,186,127 (+)NCBIMGSCv36mm8
Celera5145,856,183 - 145,871,316 (+)NCBICelera
Cytogenetic Map5G3NCBI
cM Map587.52NCBI
Pomp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81212,198,262 - 12,212,132 (-)NCBIGRCr8
mRatBN7.2127,162,098 - 7,174,737 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl127,160,714 - 7,174,715 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx127,845,587 - 7,858,215 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0128,468,727 - 8,481,355 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0127,496,704 - 7,509,332 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0128,746,948 - 8,759,433 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl128,976,585 - 8,989,214 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl128,746,855 - 8,759,599 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01210,863,653 - 10,876,138 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4127,719,721 - 7,732,544 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera128,905,352 - 8,917,837 (-)NCBICelera
Cytogenetic Map12p11NCBI
Pomp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554977,978,434 - 7,999,536 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554977,978,434 - 7,996,982 (+)NCBIChiLan1.0ChiLan1.0
POMP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21428,243,348 - 28,272,286 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11319,357,376 - 19,376,849 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0139,946,250 - 9,965,475 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11328,286,500 - 28,305,990 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1328,286,328 - 28,305,990 (+)Ensemblpanpan1.1panPan2
POMP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12511,064,065 - 11,080,878 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2511,126,996 - 11,143,816 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02511,190,220 - 11,207,045 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2511,185,711 - 11,206,960 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12511,087,729 - 11,104,543 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02511,080,137 - 11,097,005 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02511,122,086 - 11,138,893 (-)NCBIUU_Cfam_GSD_1.0
Pomp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945172,180,871 - 172,197,472 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647223,754,562 - 23,773,249 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647223,754,683 - 23,770,590 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl115,953,743 - 5,974,060 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1115,953,691 - 5,968,447 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2115,755,551 - 5,758,239 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POMP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.137,763,937 - 7,782,724 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl37,764,112 - 7,783,037 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605736,607,070 - 36,625,438 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pomp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247769,815,720 - 9,834,392 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247769,815,713 - 9,834,343 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in POMP
96 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000013.11:g.28659090del deletion Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [RCV000000136]|not provided [RCV001851505] Chr13:28659089 [GRCh38]
Chr13:29233226 [GRCh37]
Chr13:13q12.3		 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 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3		 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 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 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
NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs) indel Proteasome-associated autoinflammatory syndrome 2 [RCV000663380] Chr13:28672416..28672422 [GRCh38]
Chr13:29246553..29246559 [GRCh37]
Chr13:13q12.3		 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 13q12.13-12.3(chr13:26965244-30097858)x3 copy number gain See cases [RCV000135283] Chr13:26965244..30097858 [GRCh38]
Chr13:27539381..30671995 [GRCh37]
Chr13:26437381..29569995 [NCBI36]
Chr13:13q12.13-12.3		 likely 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 13q12.3(chr13:28566995-29387932)x3 copy number gain See cases [RCV000136529] Chr13:28566995..29387932 [GRCh38]
Chr13:29141132..29962069 [GRCh37]
Chr13:28039132..28860069 [NCBI36]
Chr13:13q12.3		 uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 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 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 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2		 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
NM_015932.6(POMP):c.340_344dup (p.Glu115fs) duplication Proteasome-associated autoinflammatory syndrome 2 [RCV000663379] Chr13:28672411..28672412 [GRCh38]
Chr13:29246548..29246549 [GRCh37]
Chr13:13q12.3		 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 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_015932.6(POMP):c.226C>T (p.Pro76Ser) single nucleotide variant not provided [RCV000440083] Chr13:28668536 [GRCh38]
Chr13:29242673 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 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 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2		 drug response
NM_015932.6(POMP):c.334_335del (p.Ile112fs) deletion Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [RCV003333089]|Proteasome-associated autoinflammatory syndrome 2 [RCV000663381] Chr13:28672407..28672408 [GRCh38]
Chr13:29246544..29246545 [GRCh37]
Chr13:13q12.3		 pathogenic
NM_015932.6(POMP):c.326dup (p.Asp109fs) duplication not provided [RCV000658673] Chr13:28672399..28672400 [GRCh38]
Chr13:29246536..29246537 [GRCh37]
Chr13:13q12.3		 likely pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q12.3(chr13:29154434-29740243)x3 copy number gain not provided [RCV000683532] Chr13:29154434..29740243 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q12.3(chr13:29136283-29976823)x3 copy number gain not provided [RCV000683537] Chr13:29136283..29976823 [GRCh37]
Chr13:13q12.3		 likely benign|uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.3(chr13:28988795-29451698)x3 copy number gain not provided [RCV000738147] Chr13:28988795..29451698 [GRCh37]
Chr13:13q12.3		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_015932.6(POMP):c.4-58C>T single nucleotide variant not provided [RCV001707381]|not specified [RCV003394222] Chr13:28662352 [GRCh38]
Chr13:29236489 [GRCh37]
Chr13:13q12.3		 benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_015932.6(POMP):c.265-270A>G single nucleotide variant not provided [RCV001677706] Chr13:28672069 [GRCh38]
Chr13:29246206 [GRCh37]
Chr13:13q12.3		 benign
NM_015932.6(POMP):c.4-201A>T single nucleotide variant not provided [RCV001653425] Chr13:28662209 [GRCh38]
Chr13:29236346 [GRCh37]
Chr13:13q12.3		 benign
GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1 copy number loss 13q12.2q12.3 deletion [RCV001579311] Chr13:28669064..31367407 [GRCh37]
Chr13:13q12.2-12.3		 likely pathogenic
NM_015932.6(POMP):c.102-70T>C single nucleotide variant not provided [RCV001645542]|not specified [RCV003487581] Chr13:28664439 [GRCh38]
Chr13:29238576 [GRCh37]
Chr13:13q12.3		 benign
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3		 likely 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 13q12.3-13.2(chr13:28925153-34061696)x1 copy number loss not provided [RCV001537908] Chr13:28925153..34061696 [GRCh37]
Chr13:13q12.3-13.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_015932.6(POMP):c.163-11G>A single nucleotide variant not provided [RCV001519725] Chr13:28668462 [GRCh38]
Chr13:29242599 [GRCh37]
Chr13:13q12.3		 benign
NM_015932.6(POMP):c.177A>G (p.Gln59=) single nucleotide variant not provided [RCV001454983] Chr13:28668487 [GRCh38]
Chr13:29242624 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.101+9G>A single nucleotide variant Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [RCV002501807]|not provided [RCV001518672] Chr13:28662516 [GRCh38]
Chr13:29236653 [GRCh37]
Chr13:13q12.3		 benign|likely benign
NM_015932.6(POMP):c.150A>G (p.Leu50=) single nucleotide variant not provided [RCV001440705] Chr13:28664557 [GRCh38]
Chr13:29238694 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_015932.6(POMP):c.168G>C (p.Gln56His) single nucleotide variant Inborn genetic diseases [RCV002551119]|not provided [RCV001864524] Chr13:28668478 [GRCh38]
Chr13:29242615 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.113T>C (p.Val38Ala) single nucleotide variant Inborn genetic diseases [RCV004651857]|not provided [RCV001965070] Chr13:28664520 [GRCh38]
Chr13:29238657 [GRCh37]
Chr13:13q12.3		 uncertain significance
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
NM_015932.6(POMP):c.391C>T (p.His131Tyr) single nucleotide variant not provided [RCV001968254] Chr13:28678067 [GRCh38]
Chr13:29252204 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.226C>A (p.Pro76Thr) single nucleotide variant not provided [RCV002004180] Chr13:28668536 [GRCh38]
Chr13:29242673 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.3(chr13:29125286-29976823)x3 copy number gain not provided [RCV001834276] Chr13:29125286..29976823 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.163-5del deletion not specified [RCV001844695] Chr13:28668465 [GRCh38]
Chr13:29242602 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.162+1G>T single nucleotide variant not provided [RCV001927050] Chr13:28664570 [GRCh38]
Chr13:29238707 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q12.3(chr13:29136283-29976823) copy number gain not specified [RCV002053044] Chr13:29136283..29976823 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.194C>G (p.Ser65Cys) single nucleotide variant not provided [RCV001905516] Chr13:28668504 [GRCh38]
Chr13:29242641 [GRCh37]
Chr13:13q12.3		 uncertain significance
NC_000013.10:g.(?_29233226)_(29233344_?)dup duplication not provided [RCV001943108] Chr13:29233226..29233344 [GRCh37]
Chr13:13q12.3		 uncertain significance
NC_000013.10:g.(?_29233226)_(29252239_?)dup duplication not provided [RCV001962822] Chr13:29233226..29252239 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.88C>T (p.Leu30Phe) single nucleotide variant not provided [RCV002017870] Chr13:28662494 [GRCh38]
Chr13:29236631 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.131C>T (p.Pro44Leu) single nucleotide variant not provided [RCV001921700] Chr13:28664538 [GRCh38]
Chr13:29238675 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.43C>T (p.Pro15Ser) single nucleotide variant not provided [RCV001936990] Chr13:28662449 [GRCh38]
Chr13:29236586 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.91C>T (p.Leu31Phe) single nucleotide variant Inborn genetic diseases [RCV004656817]|Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [RCV002497981]|not provided [RCV002012345] Chr13:28662497 [GRCh38]
Chr13:29236634 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.254C>T (p.Ala85Val) single nucleotide variant not provided [RCV001897826] Chr13:28668564 [GRCh38]
Chr13:29242701 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.50C>T (p.Thr17Ile) single nucleotide variant not provided [RCV001990362] Chr13:28662456 [GRCh38]
Chr13:29236593 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.83A>C (p.His28Pro) single nucleotide variant Inborn genetic diseases [RCV002563548]|POMP-related disorder [RCV003948841]|not provided [RCV001997505] Chr13:28662489 [GRCh38]
Chr13:29236626 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.95G>A (p.Arg32Gln) single nucleotide variant not provided [RCV002033792] Chr13:28662501 [GRCh38]
Chr13:29236638 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.259C>G (p.Gln87Glu) single nucleotide variant not provided [RCV002015967] Chr13:28668569 [GRCh38]
Chr13:29242706 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.163-5T>G single nucleotide variant not provided [RCV001926236] Chr13:28668468 [GRCh38]
Chr13:29242605 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.358+4A>G single nucleotide variant not provided [RCV002031746] Chr13:28672436 [GRCh38]
Chr13:29246573 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.171C>G (p.Leu57=) single nucleotide variant not provided [RCV002185916] Chr13:28668481 [GRCh38]
Chr13:29242618 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.101+20C>T single nucleotide variant not provided [RCV002166320] Chr13:28662527 [GRCh38]
Chr13:29236664 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.3+19G>C single nucleotide variant not provided [RCV002127400] Chr13:28659206 [GRCh38]
Chr13:29233343 [GRCh37]
Chr13:13q12.3		 benign
NM_015932.6(POMP):c.3+14C>T single nucleotide variant not provided [RCV002151342] Chr13:28659201 [GRCh38]
Chr13:29233338 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.228G>A (p.Pro76=) single nucleotide variant not provided [RCV002078863] Chr13:28668538 [GRCh38]
Chr13:29242675 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.318G>A (p.Arg106=) single nucleotide variant not provided [RCV002130667] Chr13:28672392 [GRCh38]
Chr13:29246529 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.359-12G>C single nucleotide variant not provided [RCV002080148] Chr13:28678023 [GRCh38]
Chr13:29252160 [GRCh37]
Chr13:13q12.3		 benign
NM_015932.6(POMP):c.324T>C (p.Asn108=) single nucleotide variant not provided [RCV002194266] Chr13:28672398 [GRCh38]
Chr13:29246535 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.264+7T>C single nucleotide variant not provided [RCV002131695] Chr13:28668581 [GRCh38]
Chr13:29242718 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.265-14A>T single nucleotide variant not provided [RCV002144291] Chr13:28672325 [GRCh38]
Chr13:29246462 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.171C>T (p.Leu57=) single nucleotide variant not provided [RCV002119310] Chr13:28668481 [GRCh38]
Chr13:29242618 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.265-1G>C single nucleotide variant not specified [RCV002248123] Chr13:28672338 [GRCh38]
Chr13:29246475 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.265-4A>G single nucleotide variant not provided [RCV002180729] Chr13:28672335 [GRCh38]
Chr13:29246472 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.102-14T>A single nucleotide variant not provided [RCV002142895] Chr13:28664495 [GRCh38]
Chr13:29238632 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.265-19T>G single nucleotide variant not provided [RCV002135697] Chr13:28672320 [GRCh38]
Chr13:29246457 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.359-8_359-5del deletion not provided [RCV002158806] Chr13:28678025..28678028 [GRCh38]
Chr13:29252162..29252165 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.219A>C (p.Leu73=) single nucleotide variant not provided [RCV002219916] Chr13:28668529 [GRCh38]
Chr13:29242666 [GRCh37]
Chr13:13q12.3		 likely benign
NC_000013.10:g.(?_29252152)_(29252239_?)del deletion not provided [RCV003119685] Chr13:29252152..29252239 [GRCh37]
Chr13:13q12.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_015932.6(POMP):c.146A>G (p.Glu49Gly) single nucleotide variant not provided [RCV002299428] Chr13:28664553 [GRCh38]
Chr13:29238690 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.320G>A (p.Gly107Asp) single nucleotide variant not provided [RCV002300034] Chr13:28672394 [GRCh38]
Chr13:29246531 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.187A>T (p.Asn63Tyr) single nucleotide variant not provided [RCV002301940] Chr13:28668497 [GRCh38]
Chr13:29242634 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.17T>C (p.Leu6Pro) single nucleotide variant Inborn genetic diseases [RCV002860740]|not provided [RCV003546903] Chr13:28662423 [GRCh38]
Chr13:29236560 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.4-14del deletion not provided [RCV002903091] Chr13:28662391 [GRCh38]
Chr13:29236528 [GRCh37]
Chr13:13q12.3		 benign
NM_015932.6(POMP):c.119A>G (p.Asn40Ser) single nucleotide variant not provided [RCV002617903] Chr13:28664526 [GRCh38]
Chr13:29238663 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.45A>T (p.Pro15=) single nucleotide variant not provided [RCV002995930] Chr13:28662451 [GRCh38]
Chr13:29236588 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.405A>G (p.Glu135=) single nucleotide variant not provided [RCV002617076] Chr13:28678081 [GRCh38]
Chr13:29252218 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.426A>G (p.Ter142=) single nucleotide variant POMP-related disorder [RCV003903761]|not provided [RCV002727291] Chr13:28678102 [GRCh38]
Chr13:29252239 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.263A>G (p.Gln88Arg) single nucleotide variant not provided [RCV002681613] Chr13:28668573 [GRCh38]
Chr13:29242710 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.372C>T (p.Ser124=) single nucleotide variant Inborn genetic diseases [RCV004065040]|POMP-related disorder [RCV003961329]|not provided [RCV002976054] Chr13:28678048 [GRCh38]
Chr13:29252185 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.373G>A (p.Glu125Lys) single nucleotide variant not provided [RCV003018681] Chr13:28678049 [GRCh38]
Chr13:29252186 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.61G>T (p.Ala21Ser) single nucleotide variant not provided [RCV002705315] Chr13:28662467 [GRCh38]
Chr13:29236604 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.3+13C>T single nucleotide variant not provided [RCV002570953] Chr13:28659200 [GRCh38]
Chr13:29233337 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.265-8C>A single nucleotide variant not provided [RCV003018015] Chr13:28672331 [GRCh38]
Chr13:29246468 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.163-16del deletion not provided [RCV002824540] Chr13:28668457 [GRCh38]
Chr13:29242594 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.136C>T (p.His46Tyr) single nucleotide variant Inborn genetic diseases [RCV002868228] Chr13:28664543 [GRCh38]
Chr13:29238680 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.101+19A>G single nucleotide variant not provided [RCV002829520] Chr13:28662526 [GRCh38]
Chr13:29236663 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.322A>C (p.Asn108His) single nucleotide variant Inborn genetic diseases [RCV002916161] Chr13:28672396 [GRCh38]
Chr13:29246533 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.358+24_358+25insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATTCAGCACCTTTTT insertion not provided [RCV003055818] Chr13:28672440..28672441 [GRCh38]
Chr13:29246577..29246578 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.334A>G (p.Ile112Val) single nucleotide variant Inborn genetic diseases [RCV004070664]|not provided [RCV002643954] Chr13:28672408 [GRCh38]
Chr13:29246545 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.3+7G>A single nucleotide variant not provided [RCV003055998] Chr13:28659194 [GRCh38]
Chr13:29233331 [GRCh37]
Chr13:13q12.3		 likely benign|uncertain significance
NM_015932.6(POMP):c.394T>C (p.Leu132=) single nucleotide variant not provided [RCV002894233] Chr13:28678070 [GRCh38]
Chr13:29252207 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.311T>C (p.Val104Ala) single nucleotide variant not provided [RCV002766593] Chr13:28672385 [GRCh38]
Chr13:29246522 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.309T>C (p.Asp103=) single nucleotide variant not provided [RCV002633029] Chr13:28672383 [GRCh38]
Chr13:29246520 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.170T>C (p.Leu57Pro) single nucleotide variant not provided [RCV002810470] Chr13:28668480 [GRCh38]
Chr13:29242617 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.163-19A>G single nucleotide variant not provided [RCV003045254] Chr13:28668454 [GRCh38]
Chr13:29242591 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.368A>G (p.Gln123Arg) single nucleotide variant not provided [RCV002937144] Chr13:28678044 [GRCh38]
Chr13:29252181 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.194C>T (p.Ser65Phe) single nucleotide variant Inborn genetic diseases [RCV002935202] Chr13:28668504 [GRCh38]
Chr13:29242641 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.27_35del (p.Glu9_Lys11del) deletion not provided [RCV002806179] Chr13:28662431..28662439 [GRCh38]
Chr13:29236568..29236576 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.4-11T>C single nucleotide variant not provided [RCV002937853] Chr13:28662399 [GRCh38]
Chr13:29236536 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.219A>G (p.Leu73=) single nucleotide variant POMP-related disorder [RCV003973455]|not provided [RCV002646360] Chr13:28668529 [GRCh38]
Chr13:29242666 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.42T>G (p.Ile14Met) single nucleotide variant not provided [RCV002609192] Chr13:28662448 [GRCh38]
Chr13:29236585 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.163-17T>C single nucleotide variant not provided [RCV002584350] Chr13:28668456 [GRCh38]
Chr13:29242593 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.112G>C (p.Val38Leu) single nucleotide variant Inborn genetic diseases [RCV003348872]|not provided [RCV002634486] Chr13:28664519 [GRCh38]
Chr13:29238656 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.335T>C (p.Ile112Thr) single nucleotide variant Inborn genetic diseases [RCV003364356] Chr13:28672409 [GRCh38]
Chr13:29246546 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.423G>A (p.Leu141=) single nucleotide variant not provided [RCV003873458] Chr13:28678099 [GRCh38]
Chr13:29252236 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.101+12A>T single nucleotide variant not provided [RCV003691395] Chr13:28662519 [GRCh38]
Chr13:29236656 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.94C>T (p.Arg32Trp) single nucleotide variant not provided [RCV003831033] Chr13:28662500 [GRCh38]
Chr13:29236637 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.45A>C (p.Pro15=) single nucleotide variant not provided [RCV003695322] Chr13:28662451 [GRCh38]
Chr13:29236588 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.246A>G (p.Glu82=) single nucleotide variant not provided [RCV003739290] Chr13:28668556 [GRCh38]
Chr13:29242693 [GRCh37]
Chr13:13q12.3		 benign
NM_015932.6(POMP):c.*1_*2del (p.Ter142=) deletion not provided [RCV003544657] Chr13:28678102..28678103 [GRCh38]
Chr13:29252239..29252240 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.3+3G>C single nucleotide variant not provided [RCV003664469] Chr13:28659190 [GRCh38]
Chr13:29233327 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.102-10_102-9del deletion not provided [RCV003699151] Chr13:28664498..28664499 [GRCh38]
Chr13:29238635..29238636 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.67G>A (p.Gly23Arg) single nucleotide variant not provided [RCV003698445] Chr13:28662473 [GRCh38]
Chr13:29236610 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.58T>C (p.Ser20Pro) single nucleotide variant not provided [RCV003835839] Chr13:28662464 [GRCh38]
Chr13:29236601 [GRCh37]
Chr13:13q12.3		 uncertain significance
NC_000013.11:g.28659090C>T single nucleotide variant not provided [RCV003850329] Chr13:28659090 [GRCh38]
Chr13:29233227 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.168G>A (p.Gln56=) single nucleotide variant not provided [RCV003703568] Chr13:28668478 [GRCh38]
Chr13:29242615 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.38G>A (p.Ser13Asn) single nucleotide variant not provided [RCV003670278] Chr13:28662444 [GRCh38]
Chr13:29236581 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.334A>C (p.Ile112Leu) single nucleotide variant not provided [RCV003671847] Chr13:28672408 [GRCh38]
Chr13:29246545 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.4-7G>A single nucleotide variant not provided [RCV003671393] Chr13:28662403 [GRCh38]
Chr13:29236540 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.3+4A>G single nucleotide variant not provided [RCV003843574] Chr13:28659191 [GRCh38]
Chr13:29233328 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.162+7A>T single nucleotide variant not provided [RCV003871921] Chr13:28664576 [GRCh38]
Chr13:29238713 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.358+5G>A single nucleotide variant not provided [RCV003685628] Chr13:28672437 [GRCh38]
Chr13:29246574 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.145G>C (p.Glu49Gln) single nucleotide variant not provided [RCV003860625] Chr13:28664552 [GRCh38]
Chr13:29238689 [GRCh37]
Chr13:13q12.3		 uncertain significance
NM_015932.6(POMP):c.162+9A>G single nucleotide variant not provided [RCV003674940] Chr13:28664578 [GRCh38]
Chr13:29238715 [GRCh37]
Chr13:13q12.3		 likely benign
NM_015932.6(POMP):c.183A>G (p.Lys61=) single nucleotide variant not provided [RCV003727464] Chr13:28668493 [GRCh38]
Chr13:29242630 [GRCh37]
Chr13:13q12.3		 likely benign
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 copy number gain not provided [RCV004442747] Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3		 uncertain significance
NC_000013.10:g.(?_29236527)_(29252239_?)dup duplication not provided [RCV004578342] Chr13:29236527..29252239 [GRCh37]
Chr13:13q12.3		 uncertain significance
NC_000013.10:g.(?_27827914)_(29252239_?)dup duplication not provided [RCV004578341] Chr13:27827914..29252239 [GRCh37]
Chr13:13q12.2-12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:308
Count of miRNA genes:260
Interacting mature miRNAs:276
Transcripts:ENST00000380842, ENST00000460403
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407063078GWAS712054_Hred blood cell density measurement QTL GWAS712054 (human)2e-26red blood cell density measurement132866282828662829Human
406933066GWAS582042_Hadolescent idiopathic scoliosis QTL GWAS582042 (human)9e-11adolescent idiopathic scoliosis132866291828662919Human
406967002GWAS615978_Hhemoglobin measurement QTL GWAS615978 (human)4e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)132866549328665494Human
407012159GWAS661135_Hhemoglobin measurement QTL GWAS661135 (human)3e-17hemoglobin measurementhemoglobin measurement (CMO:0000508)132866549328665494Human
407106269GWAS755245_Herythrocyte count QTL GWAS755245 (human)8e-21erythrocyte countred blood cell count (CMO:0000025)132866208928662090Human
406897439GWAS546415_Hmouth morphology measurement QTL GWAS546415 (human)0.000003mouth morphology measurement132866409928664100Human

Markers in Region
STS-R67915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371329,252,817 - 29,253,027UniSTSGRCh37
Build 361328,150,817 - 28,151,027RGDNCBI36
Celera1310,328,589 - 10,328,799RGD
Cytogenetic Map13q12.3UniSTS
HuRef1310,074,638 - 10,074,848UniSTS
GeneMap99-GB4 RH Map1391.14UniSTS
NCBI RH Map13227.2UniSTS
RH79841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X82,814,851 - 82,815,022UniSTSGRCh37
Build 36X82,701,507 - 82,701,678RGDNCBI36
CeleraX83,052,284 - 83,052,455RGD
Cytogenetic Map13q12.3UniSTS
HuRefX76,388,640 - 76,388,811UniSTS
GeneMap99-GB4 RH MapX251.66UniSTS
RH45726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371329,252,378 - 29,252,537UniSTSGRCh37
Build 361328,150,378 - 28,150,537RGDNCBI36
Celera1310,328,150 - 10,328,309RGD
Cytogenetic Map13q12.3UniSTS
HuRef1310,074,199 - 10,074,358UniSTS
GeneMap99-GB4 RH Map1386.82UniSTS
NCBI RH Map13218.5UniSTS
D13S1522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371329,239,046 - 29,239,186UniSTSGRCh37
Build 361328,137,046 - 28,137,186RGDNCBI36
Celera1310,314,819 - 10,314,959RGD
HuRef1310,060,866 - 10,061,006UniSTS
SHGC-32045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371329,235,281 - 29,235,429UniSTSGRCh37
Build 361328,133,281 - 28,133,429RGDNCBI36
Celera1310,311,054 - 10,311,202RGD
Cytogenetic Map13q12.3UniSTS
HuRef1310,057,100 - 10,057,248UniSTS
Stanford-G3 RH Map13270.0UniSTS
GeneMap99-GB4 RH Map1388.06UniSTS
Whitehead-RH Map1376.1UniSTS
NCBI RH Map13218.5UniSTS
GeneMap99-G3 RH Map13266.0UniSTS
SHGC-64040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371329,252,182 - 29,252,280UniSTSGRCh37
Build 361328,150,182 - 28,150,280RGDNCBI36
Celera1310,327,954 - 10,328,052RGD
Cytogenetic Map13q12.3UniSTS
HuRef1310,074,003 - 10,074,101UniSTS
RH44823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371329,252,810 - 29,253,017UniSTSGRCh37
Build 361328,150,810 - 28,151,017RGDNCBI36
Celera1310,328,582 - 10,328,789RGD
Cytogenetic Map13q12.3UniSTS
HuRef1310,074,631 - 10,074,838UniSTS
GeneMap99-GB4 RH Map1386.82UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000380842   ⟹   ENSP00000370222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,130 - 28,678,959 (+)Ensembl
Ensembl Acc Id: ENST00000460403   ⟹   ENSP00000492579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,104 - 28,678,925 (+)Ensembl
Ensembl Acc Id: ENST00000697661   ⟹   ENSP00000513386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,172 - 28,678,199 (+)Ensembl
Ensembl Acc Id: ENST00000697662   ⟹   ENSP00000513387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,178 - 28,678,925 (+)Ensembl
Ensembl Acc Id: ENST00000697663   ⟹   ENSP00000513388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,660,739 - 28,678,199 (+)Ensembl
Ensembl Acc Id: ENST00000697716   ⟹   ENSP00000513414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,065 - 28,678,199 (+)Ensembl
Ensembl Acc Id: ENST00000697717   ⟹   ENSP00000513415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,127 - 28,678,807 (+)Ensembl
Ensembl Acc Id: ENST00000697718   ⟹   ENSP00000513416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,149 - 28,677,644 (+)Ensembl
Ensembl Acc Id: ENST00000697719   ⟹   ENSP00000513417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,400 - 28,678,199 (+)Ensembl
Ensembl Acc Id: ENST00000697720   ⟹   ENSP00000513418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,400 - 28,678,199 (+)Ensembl
Ensembl Acc Id: ENST00000697721   ⟹   ENSP00000513419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,659,830 - 28,678,199 (+)Ensembl
Ensembl Acc Id: ENST00000697722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,670,669 - 28,678,194 (+)Ensembl
RefSeq Acc Id: NM_015932   ⟹   NP_057016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,659,130 - 28,678,959 (+)NCBI
GRCh371329,233,141 - 29,253,094 (+)ENTREZGENE
Build 361328,131,251 - 28,151,059 (+)NCBI Archive
HuRef1310,054,960 - 10,074,915 (+)ENTREZGENE
CHM1_11329,201,466 - 29,221,419 (+)NCBI
T2T-CHM13v2.01327,882,418 - 27,902,247 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057016   ⟸   NM_015932
- UniProtKB: D6MXU3 (UniProtKB/Swiss-Prot),   A5HKJ2 (UniProtKB/Swiss-Prot),   Q9HB69 (UniProtKB/Swiss-Prot),   Q9Y244 (UniProtKB/Swiss-Prot),   A0A8V8TLM3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000370222   ⟸   ENST00000380842
Ensembl Acc Id: ENSP00000492579   ⟸   ENST00000460403
Ensembl Acc Id: ENSP00000513387   ⟸   ENST00000697662
Ensembl Acc Id: ENSP00000513414   ⟸   ENST00000697716
Ensembl Acc Id: ENSP00000513386   ⟸   ENST00000697661
Ensembl Acc Id: ENSP00000513415   ⟸   ENST00000697717
Ensembl Acc Id: ENSP00000513418   ⟸   ENST00000697720
Ensembl Acc Id: ENSP00000513417   ⟸   ENST00000697719
Ensembl Acc Id: ENSP00000513419   ⟸   ENST00000697721
Ensembl Acc Id: ENSP00000513388   ⟸   ENST00000697663
Ensembl Acc Id: ENSP00000513416   ⟸   ENST00000697718

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y244-F1-model_v2 AlphaFold Q9Y244 1-141 view protein structure

Promoters
RGD ID:6791009
Promoter ID:HG_KWN:17405
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015932,   OTTHUMT00000044328
Position:
Human AssemblyChrPosition (strand)Source
Build 361328,130,331 - 28,131,267 (+)MPROMDB
RGD ID:7226121
Promoter ID:EPDNEW_H18806
Type:initiation region
Name:POMP_1
Description:proteasome maturation protein
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
GRCh381328,659,157 - 28,659,217EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20330 AgrOrtholog
COSMIC POMP COSMIC
Ensembl Genes ENSG00000132963 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380842 ENTREZGENE
  ENST00000380842.5 UniProtKB/Swiss-Prot
  ENST00000460403.1 UniProtKB/TrEMBL
  ENST00000697661.1 UniProtKB/TrEMBL
  ENST00000697662.1 UniProtKB/TrEMBL
  ENST00000697663.1 UniProtKB/TrEMBL
  ENST00000697716.1 UniProtKB/TrEMBL
  ENST00000697717.1 UniProtKB/TrEMBL
  ENST00000697718.1 UniProtKB/TrEMBL
  ENST00000697719.1 UniProtKB/TrEMBL
  ENST00000697720.1 UniProtKB/TrEMBL
  ENST00000697721.1 UniProtKB/TrEMBL
GTEx ENSG00000132963 GTEx
HGNC ID HGNC:20330 ENTREZGENE
Human Proteome Map POMP Human Proteome Map
InterPro Ump1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51371 UniProtKB/Swiss-Prot
NCBI Gene 51371 ENTREZGENE
OMIM 613386 OMIM
PANTHER PROTEASOME MATURATION PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12828 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UMP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134898606 PharmGKB
UniProt A0A1W2PS02_HUMAN UniProtKB/TrEMBL
  A0A8V8TLM3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMM8_HUMAN UniProtKB/TrEMBL
  A5HKJ2 ENTREZGENE
  D6MXU3 ENTREZGENE
  POMP_HUMAN UniProtKB/Swiss-Prot
  Q9HB69 ENTREZGENE
  Q9Y244 ENTREZGENE
UniProt Secondary A5HKJ2 UniProtKB/Swiss-Prot
  D6MXU3 UniProtKB/Swiss-Prot
  Q9HB69 UniProtKB/Swiss-Prot