PRXL2B (peroxiredoxin like 2B) - Rat Genome Database

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Gene: PRXL2B (peroxiredoxin like 2B) Homo sapiens
Analyze
Symbol: PRXL2B
Name: peroxiredoxin like 2B
RGD ID: 1603910
HGNC Page HGNC:28390
Description: Predicted to enable prostaglandin F synthase activity. Predicted to be involved in prostaglandin biosynthetic process. Located in extracellular exosome and mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf93; DKFZp547M123; FAM213B; family with sequence similarity 213 member B; family with sequence similarity 213, member B; hypothetical protein LOC127281; MGC26818; prostamide/PG F synthase; prostamide/PGF synthase; prostamide/prostaglandin F synthase; RP3-395M20.10; thioredoxin-type PGF synthase
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
GRCh3812,586,523 - 2,591,468 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12,586,491 - 2,591,469 (+)EnsemblGRCh38hg38GRCh38
GRCh3712,517,962 - 2,522,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612,508,109 - 2,512,762 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,098 - 67,751 (-)NCBICelera
Cytogenetic Map1p36.32NCBI
HuRef11,797,135 - 1,802,144 (+)NCBIHuRef
CHM1_112,504,978 - 2,509,987 (+)NCBICHM1_1
T2T-CHM13v2.012,028,168 - 2,033,113 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytoplasm  (IBA,IEA,ISO,ISS)
cytosol  (IEA)
endoplasmic reticulum  (IEA,ISS)
extracellular exosome  (HDA)
mitochondrion  (HTP)
myelin sheath  (IEA,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Molecular characterization of a novel type of prostamide/prostaglandin F synthase, belonging to the thioredoxin-like superfamily. Moriuchi H, etal., J Biol Chem. 2008 Jan 11;283(2):792-801. Epub 2007 Nov 15.
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:14710190   PMID:16344560   PMID:18029348   PMID:19056867   PMID:20950588   PMID:21297633   PMID:21873635   PMID:21900206   PMID:23376485  
PMID:26186194   PMID:28514442   PMID:31586073   PMID:32296183   PMID:33001583   PMID:33961781   PMID:34800366   PMID:35831314  


Genomics

Comparative Map Data
PRXL2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812,586,523 - 2,591,468 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12,586,491 - 2,591,469 (+)EnsemblGRCh38hg38GRCh38
GRCh3712,517,962 - 2,522,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612,508,109 - 2,512,762 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,098 - 67,751 (-)NCBICelera
Cytogenetic Map1p36.32NCBI
HuRef11,797,135 - 1,802,144 (+)NCBIHuRef
CHM1_112,504,978 - 2,509,987 (+)NCBICHM1_1
T2T-CHM13v2.012,028,168 - 2,033,113 (+)NCBIT2T-CHM13v2.0
Prxl2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394154,980,884 - 154,983,522 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4154,979,961 - 154,983,592 (-)EnsemblGRCm39 Ensembl
GRCm384154,896,430 - 154,899,043 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4154,895,504 - 154,899,135 (-)EnsemblGRCm38mm10GRCm38
MGSCv374154,270,539 - 154,273,152 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364153,740,230 - 153,742,843 (-)NCBIMGSCv36mm8
Celera4157,167,936 - 157,170,549 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map485.67NCBI
Prxl2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85170,744,953 - 170,747,556 (-)NCBIGRCr8
mRatBN7.25165,462,610 - 165,465,213 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx5168,167,749 - 168,170,352 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05169,989,159 - 169,991,762 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05169,951,697 - 169,954,300 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05172,304,799 - 172,307,402 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5172,304,758 - 172,307,431 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05175,760,762 - 175,763,365 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45171,704,247 - 171,706,850 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15171,714,741 - 171,717,325 (-)NCBI
Celera5163,669,128 - 163,671,731 (-)NCBICelera
Cytogenetic Map5q36NCBI
Prxl2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554868,663,595 - 8,666,469 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554868,663,708 - 8,666,369 (-)NCBIChiLan1.0ChiLan1.0
PRXL2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21225,656,040 - 225,660,727 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11224,316,576 - 224,321,263 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011,319,718 - 1,324,409 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112,457,130 - 2,463,858 (+)NCBIpanpan1.1PanPan1.1panPan2
PRXL2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1557,429,973 - 57,434,371 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl557,429,212 - 57,434,210 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha557,443,767 - 57,448,116 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0557,634,086 - 57,638,435 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1557,625,412 - 57,629,761 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0557,517,700 - 57,522,050 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0557,907,472 - 57,911,821 (+)NCBIUU_Cfam_GSD_1.0
Prxl2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505828,465,190 - 28,467,637 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936737998,186 - 1,000,764 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936737998,313 - 1,000,757 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRXL2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl664,432,148 - 64,435,320 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1664,432,187 - 64,435,328 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2658,856,668 - 58,859,809 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRXL2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120128,964,750 - 128,969,469 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20128,964,987 - 128,967,620 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605433,307,985 - 33,311,032 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prxl2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248187,483,001 - 7,485,431 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248187,478,680 - 7,485,431 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRXL2B
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|See cases [RCV000050339] Chr1:149041013..149699420 [GRCh37]
Chr1:1q21.2		 benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 copy number loss See cases [RCV000050857] Chr1:844347..3006252 [GRCh38]
Chr1:779727..2922816 [GRCh37]
Chr1:769590..2912676 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 copy number loss See cases [RCV000050642] Chr1:844347..5682587 [GRCh38]
Chr1:779727..5742647 [GRCh37]
Chr1:769590..5665234 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 copy number loss See cases [RCV000050647] Chr1:844347..3319395 [GRCh38]
Chr1:779727..3235959 [GRCh37]
Chr1:769590..3225819 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000050752] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 copy number gain See cases [RCV000051779] Chr1:792758..5006311 [GRCh38]
Chr1:728138..5066371 [GRCh37]
Chr1:718001..4966231 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 copy number gain See cases [RCV000051780] Chr1:826553..4719105 [GRCh38]
Chr1:761933..4779165 [GRCh37]
Chr1:751796..4679025 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 copy number loss See cases [RCV000052063] Chr1:870177..4426613 [GRCh38]
Chr1:805557..4486673 [GRCh37]
Chr1:795420..4386533 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 copy number loss See cases [RCV000052065] Chr1:872305..3054463 [GRCh38]
Chr1:807685..2971027 [GRCh37]
Chr1:797548..2960887 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 copy number loss See cases [RCV000052066] Chr1:872305..4133409 [GRCh38]
Chr1:807685..4193469 [GRCh37]
Chr1:797548..4093329 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 copy number gain See cases [RCV000052067] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 copy number loss See cases [RCV000052068] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] Chr1:1084373..3367776 [GRCh38]
Chr1:1019753..3284340 [GRCh37]
Chr1:1009616..3274200 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 copy number loss See cases [RCV000051994] Chr1:629044..3346226 [GRCh38]
Chr1:564424..3262790 [GRCh37]
Chr1:554287..3252650 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 copy number loss See cases [RCV000052070] Chr1:1181847..5507243 [GRCh38]
Chr1:1117227..5567303 [GRCh37]
Chr1:1107090..5489890 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1 copy number loss See cases [RCV000052071] Chr1:1482278..3152536 [GRCh38]
Chr1:1417658..3069100 [GRCh37]
Chr1:1407521..3058960 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 copy number loss See cases [RCV000051996] Chr1:821713..4155674 [GRCh38]
Chr1:757093..4215734 [GRCh37]
Chr1:746956..4115594 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 copy number loss See cases [RCV000052014] Chr1:844147..5970026 [GRCh38]
Chr1:779527..6030086 [GRCh37]
Chr1:769390..5952673 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 copy number loss See cases [RCV000052015] Chr1:844147..5827203 [GRCh38]
Chr1:779527..5887263 [GRCh37]
Chr1:769390..5809850 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|See cases [RCV000052016] Chr1:844147..2963530 [GRCh38]
Chr1:779527..2880095 [GRCh37]
Chr1:769390..2869955 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 copy number loss See cases [RCV000052017] Chr1:844147..4598532 [GRCh38]
Chr1:779527..4658592 [GRCh37]
Chr1:769390..4558452 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 copy number loss See cases [RCV000052018] Chr1:844147..5020772 [GRCh38]
Chr1:779527..5080832 [GRCh37]
Chr1:769390..4980692 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] Chr1:844347..5363885 [GRCh38]
Chr1:779727..5423945 [GRCh37]
Chr1:769590..5323805 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] Chr1:844347..5431639 [GRCh38]
Chr1:779727..5491699 [GRCh37]
Chr1:769590..5414286 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 copy number loss See cases [RCV000052040] Chr1:844347..4665295 [GRCh38]
Chr1:779727..4725355 [GRCh37]
Chr1:769590..4625215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3 copy number gain See cases [RCV000134197] Chr1:2563698..2689265 [GRCh38]
Chr1:2495137..2620704 [GRCh37]
Chr1:2488932..2610564 [NCBI36]
Chr1:1p36.32		 benign
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 copy number loss See cases [RCV000134747] Chr1:844353..3487877 [GRCh38]
Chr1:779733..3404441 [GRCh37]
Chr1:769596..3394301 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 copy number loss See cases [RCV000134137] Chr1:844347..4398122 [GRCh38]
Chr1:779727..4458182 [GRCh37]
Chr1:769590..4358042 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 copy number loss See cases [RCV000136715] Chr1:874379..4973261 [GRCh38]
Chr1:809759..5033321 [GRCh37]
Chr1:799622..4933181 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 copy number loss See cases [RCV000137380] Chr1:1022094..4665295 [GRCh38]
Chr1:957474..4725355 [GRCh37]
Chr1:947337..4625215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 copy number loss See cases [RCV000138225] Chr1:821713..3569891 [GRCh38]
Chr1:757093..3486455 [GRCh37]
Chr1:746956..3476315 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 copy number gain See cases [RCV000138165] Chr1:821713..3928354 [GRCh38]
Chr1:757093..3823583 [GRCh37]
Chr1:746956..3834778 [NCBI36]
Chr1:1p36.33-36.32		 likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 copy number loss See cases [RCV000137978] Chr1:821713..5239643 [GRCh38]
Chr1:757093..5299703 [GRCh37]
Chr1:746956..5199563 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 copy number loss See cases [RCV000138704] Chr1:844353..3153909 [GRCh38]
Chr1:779733..3070473 [GRCh37]
Chr1:769596..3060333 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 copy number loss See cases [RCV000138883] Chr1:1072906..2806838 [GRCh38]
Chr1:1008286..2723403 [GRCh37]
Chr1:998149..2713263 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4 copy number gain See cases [RCV000138951] Chr1:1756301..3649513 [GRCh38]
Chr1:1687740..3566077 [GRCh37]
Chr1:1677600..3555937 [NCBI36]
Chr1:1p36.33-36.32		 uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 copy number loss See cases [RCV000140164] Chr1:778698..4898439 [GRCh38]
Chr1:714078..4958499 [GRCh37]
Chr1:703941..4858359 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 copy number loss See cases [RCV000139780] Chr1:821713..3438208 [GRCh38]
Chr1:757093..3354772 [GRCh37]
Chr1:746956..3344632 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3 copy number gain See cases [RCV000139659] Chr1:1330915..3743546 [GRCh38]
Chr1:1266295..3660110 [GRCh37]
Chr1:1256158..3649970 [NCBI36]
Chr1:1p36.33-36.32		 uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 copy number loss See cases [RCV000141208] Chr1:821713..2636393 [GRCh38]
Chr1:757093..2567832 [GRCh37]
Chr1:746956..2557692 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 copy number loss See cases [RCV000141318] Chr1:821713..5099990 [GRCh38]
Chr1:757093..5160050 [GRCh37]
Chr1:746956..5059910 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 copy number loss See cases [RCV000141227] Chr1:821713..2976123 [GRCh38]
Chr1:757093..2892687 [GRCh37]
Chr1:746956..2882547 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 copy number loss See cases [RCV000141356] Chr1:821713..4225085 [GRCh38]
Chr1:757093..4285145 [GRCh37]
Chr1:746956..4185005 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 copy number loss See cases [RCV000140709] Chr1:821713..5480263 [GRCh38]
Chr1:757093..5540323 [GRCh37]
Chr1:746956..5462910 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 copy number loss See cases [RCV000140894] Chr1:914086..3305463 [GRCh38]
Chr1:849466..3222027 [GRCh37]
Chr1:839329..3211887 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 copy number loss See cases [RCV000141668] Chr1:914086..3587042 [GRCh38]
Chr1:849466..3503606 [GRCh37]
Chr1:839329..3493466 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1 copy number loss See cases [RCV000142754] Chr1:911300..2963389 [GRCh38]
Chr1:846680..2879954 [GRCh37]
Chr1:836543..2869814 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000148161] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1 copy number loss See cases [RCV000240189] Chr1:874455..2577794 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1 copy number loss See cases [RCV000240333] Chr1:874455..3177921 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 copy number gain See cases [RCV000449132] Chr1:849466..3396845 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 copy number loss See cases [RCV000449322] Chr1:849466..5318552 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 copy number gain See cases [RCV000447000] Chr1:19225..4401691 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 copy number loss See cases [RCV000446544] Chr1:849466..4099471 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 copy number loss See cases [RCV000447515] Chr1:564424..3582058 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 copy number loss See cases [RCV000448903] Chr1:849466..5707515 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 copy number loss See cases [RCV000510640] Chr1:849466..4048535 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1 copy number loss See cases [RCV000511408] Chr1:849466..2607016 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1 copy number loss See cases [RCV000511834] Chr1:849466..2748837 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1 copy number loss See cases [RCV000511946] Chr1:1415800..5007235 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1 copy number loss See cases [RCV000510858] Chr1:849466..2554275 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_152371.5(PRXL2B):c.-86G>T single nucleotide variant not specified [RCV004327761] Chr1:2586800 [GRCh38]
Chr1:2518239 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1 copy number loss not provided [RCV003312163] Chr1:536777..6012896 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 copy number loss See cases [RCV000512243] Chr1:849466..5352492 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 copy number loss not provided [RCV000684533] Chr1:849466..4262915 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1 copy number loss not provided [RCV000684537] Chr1:2190850..3503606 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1 copy number loss not provided [RCV000684538] Chr1:2397432..2812958 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.32(chr1:2419098-3222541)x3 copy number gain not provided [RCV000684539] Chr1:2419098..3222541 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1 copy number loss not provided [RCV000736303] Chr1:82154..3340855 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 copy number loss not provided [RCV000748814] Chr1:977062..5179574 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2280661-2551900)x1 copy number loss not provided [RCV000748849] Chr1:2280661..2551900 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3 copy number gain See cases [RCV001007411] Chr1:82154..3349513 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645) copy number gain not provided [RCV000767773] Chr1:1471075..5831645 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) copy number loss Chromosome 1p36 deletion syndrome [RCV000767775] Chr1:568708..3662949 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832) copy number loss Chromosome 1p36 deletion syndrome [RCV000767776] Chr1:568708..2567832 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV000856630] Chr1:1723651..3444846 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del deletion Shprintzen-Goldberg syndrome [RCV000816642] Chr1:955543..2957600 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1 copy number loss See cases [RCV000790598] Chr1:2261222..5304873 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.32(chr1:2469637-2628158)x3 copy number gain not provided [RCV000847773] Chr1:2469637..2628158 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
NM_152371.5(PRXL2B):c.509A>G (p.Tyr170Cys) single nucleotide variant not specified [RCV004298258] Chr1:2588970 [GRCh38]
Chr1:2520409 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001033604] Chr1:955543..3350385 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3 copy number gain not provided [RCV002473692] Chr1:2194087..4738355 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 copy number loss not provided [RCV001005059] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
Single allele deletion Chromosome 1p36 deletion syndrome [RCV001250754] Chr1:1670720..3816863 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23		 likely pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV001535693] Chr1:2420003..8155935 [GRCh37]
Chr1:1p36.32-36.23		 not provided
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1 copy number loss See cases [RCV002285055] Chr1:849466..2518608 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1 copy number loss not provided [RCV001795535] Chr1:753552..4034574 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006) copy number loss Chromosome 1p36 deletion syndrome [RCV002280716] Chr1:849466..4183006 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del deletion Left ventricular noncompaction 8 [RCV002004579] Chr1:989123..3160711 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1 copy number loss not provided [RCV001829223] Chr1:849466..2621542 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NC_000001.10:g.(?_955553)_(3350375_?)del deletion Left ventricular noncompaction 8 [RCV001955735] Chr1:955553..3350375 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del deletion Combined immunodeficiency due to OX40 deficiency [RCV001919158]|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]|Joubert syndrome 25 [RCV001923368]|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]|not provided [RCV001943250] Chr1:861322..3768971 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV002279763] Chr1:834101..7930605 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) copy number loss Chromosome 1p36 deletion syndrome [RCV002280715] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1 copy number loss not provided [RCV002474579] Chr1:2173570..5023430 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1 copy number loss not provided [RCV002472529] Chr1:849467..2972435 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NM_033467.4(MMEL1):c.2311C>T (p.His771Tyr) single nucleotide variant not specified [RCV004091813] Chr1:2591019 [GRCh38]
Chr1:2522458 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_033467.4(MMEL1):c.2296C>T (p.Arg766Trp) single nucleotide variant not specified [RCV004199847] Chr1:2591034 [GRCh38]
Chr1:2522473 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_033467.4(MMEL1):c.2275G>A (p.Ala759Thr) single nucleotide variant not specified [RCV004243787] Chr1:2591055 [GRCh38]
Chr1:2522494 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_033467.4(MMEL1):c.2288A>G (p.His763Arg) single nucleotide variant not specified [RCV004155661] Chr1:2591042 [GRCh38]
Chr1:2522481 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.-86G>A single nucleotide variant not specified [RCV004252786] Chr1:2586800 [GRCh38]
Chr1:2518239 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV003226604] Chr1:1..2580976 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.32(chr1:2518272-4413203) copy number gain Anomalous pulmonary venous return [RCV003223566] Chr1:2518272..4413203 [GRCh38]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.186C>G (p.Asp62Glu) single nucleotide variant not specified [RCV004272146] Chr1:2587213 [GRCh38]
Chr1:2518652 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454) copy number loss Chromosome 1p36 deletion syndrome [RCV003319574] Chr1:1957148..6553454 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3 copy number gain not provided [RCV003484001] Chr1:1129319..3615916 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3 copy number gain not provided [RCV003484004] Chr1:1687675..3638712 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1 copy number loss not provided [RCV003482983] Chr1:849467..3500877 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3 copy number gain not provided [RCV003483999] Chr1:1089596..2607016 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_033467.4(MMEL1):c.2286C>A (p.Phe762Leu) single nucleotide variant not specified [RCV004510503] Chr1:2591044 [GRCh38]
Chr1:2522483 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_033467.4(MMEL1):c.2303C>A (p.Thr768Asn) single nucleotide variant not specified [RCV004510599] Chr1:2591027 [GRCh38]
Chr1:2522466 [GRCh37]
Chr1:1p36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1 copy number loss not specified [RCV003986795] Chr1:1959612..5471235 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 copy number loss not specified [RCV003986962] Chr1:849466..8966102 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3 copy number gain not specified [RCV003986984] Chr1:849466..4529103 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
NM_152371.5(PRXL2B):c.20C>T (p.Ala7Val) single nucleotide variant not specified [RCV004512996] Chr1:2586905 [GRCh38]
Chr1:2518344 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.52G>C (p.Val18Leu) single nucleotide variant not specified [RCV004512997] Chr1:2586937 [GRCh38]
Chr1:2518376 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.-72T>G single nucleotide variant not specified [RCV004512998] Chr1:2586814 [GRCh38]
Chr1:2518253 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.-51G>T single nucleotide variant not specified [RCV004513000] Chr1:2586835 [GRCh38]
Chr1:2518274 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.321-25G>A single nucleotide variant not specified [RCV004513001] Chr1:2588365 [GRCh38]
Chr1:2519804 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.568G>A (p.Asp190Asn) single nucleotide variant not specified [RCV004513007] Chr1:2589029 [GRCh38]
Chr1:2520468 [GRCh37]
Chr1:1p36.32		 likely benign
NM_152371.5(PRXL2B):c.-62A>C single nucleotide variant not specified [RCV004512999] Chr1:2586824 [GRCh38]
Chr1:2518263 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.511G>A (p.Val171Ile) single nucleotide variant not specified [RCV004513005] Chr1:2588972 [GRCh38]
Chr1:2520411 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.385G>T (p.Ala129Ser) single nucleotide variant not specified [RCV004513002] Chr1:2588550 [GRCh38]
Chr1:2519989 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.544A>G (p.Ile182Val) single nucleotide variant not specified [RCV004513006] Chr1:2589005 [GRCh38]
Chr1:2520444 [GRCh37]
Chr1:1p36.32		 uncertain significance
NC_000001.10:g.(?_1470739)_(3768971_?)dup duplication not provided [RCV004579073] Chr1:1470739..3768971 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NM_033467.4(MMEL1):c.2332G>A (p.Val778Met) single nucleotide variant not specified [RCV004641062] Chr1:2590998 [GRCh38]
Chr1:2522437 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.573G>A (p.Pro191=) single nucleotide variant not specified [RCV004657606] Chr1:2589034 [GRCh38]
Chr1:2520473 [GRCh37]
Chr1:1p36.32		 likely benign
NM_152371.5(PRXL2B):c.122G>C (p.Arg41Pro) single nucleotide variant not specified [RCV004657607] Chr1:2587149 [GRCh38]
Chr1:2518588 [GRCh37]
Chr1:1p36.32		 uncertain significance
NM_152371.5(PRXL2B):c.525C>T (p.His175=) single nucleotide variant not specified [RCV004657608] Chr1:2588986 [GRCh38]
Chr1:2520425 [GRCh37]
Chr1:1p36.32		 likely benign
NC_000001.10:g.(?_1146935)_(3768971_?)del deletion Shprintzen-Goldberg syndrome [RCV004584004] Chr1:1146935..3768971 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9257
Count of miRNA genes:1041
Interacting mature miRNAs:1328
Transcripts:ENST00000378424, ENST00000378425, ENST00000378427, ENST00000419916, ENST00000444521, ENST00000464043, ENST00000465233, ENST00000474659, ENST00000476686, ENST00000477045, ENST00000481683, ENST00000484099, ENST00000493183, ENST00000498083, ENST00000537325
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407136720GWAS785696_Hinsulin measurement QTL GWAS785696 (human)0.000005insulin measurementpancreatic islet insulin release measurement (CMO:0001216)125888632588864Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
407046686GWAS695662_Hmultiple sclerosis QTL GWAS695662 (human)2e-36multiple sclerosis125890882589089Human

Markers in Region
G20652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712,522,629 - 2,522,840UniSTSGRCh37
Build 3612,512,489 - 2,512,700RGDNCBI36
Celera163,160 - 63,371RGD
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36UniSTS
HuRef11,801,865 - 1,802,076UniSTS
A006A26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712,522,629 - 2,522,840UniSTSGRCh37
Build 3612,512,489 - 2,512,700RGDNCBI36
Celera163,160 - 63,371RGD
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36UniSTS
HuRef11,801,865 - 1,802,076UniSTS
GeneMap99-GB4 RH Map115.89UniSTS
D1S3693  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p15.3-p15.2UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q32.3-q41UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q12UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001195736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF425266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI908668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM976058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ709693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA292832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA495138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC351872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC407959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000378424   ⟹   ENSP00000367681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,780 - 2,591,467 (+)Ensembl
Ensembl Acc Id: ENST00000378425   ⟹   ENSP00000367682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,750 - 2,591,467 (+)Ensembl
Ensembl Acc Id: ENST00000378427   ⟹   ENSP00000367684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,798 - 2,591,463 (+)Ensembl
Ensembl Acc Id: ENST00000419916   ⟹   ENSP00000394405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,777 - 2,591,468 (+)Ensembl
Ensembl Acc Id: ENST00000444521   ⟹   ENSP00000413218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,750 - 2,591,467 (+)Ensembl
Ensembl Acc Id: ENST00000464043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,817 - 2,589,805 (+)Ensembl
Ensembl Acc Id: ENST00000465233   ⟹   ENSP00000462185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,833 - 2,588,977 (+)Ensembl
Ensembl Acc Id: ENST00000474659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,540 - 2,589,658 (+)Ensembl
Ensembl Acc Id: ENST00000476686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,588,594 - 2,591,468 (+)Ensembl
Ensembl Acc Id: ENST00000477045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,587,085 - 2,588,745 (+)Ensembl
Ensembl Acc Id: ENST00000481683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,587,042 - 2,589,513 (+)Ensembl
Ensembl Acc Id: ENST00000484099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,587,078 - 2,591,469 (+)Ensembl
Ensembl Acc Id: ENST00000493183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,491 - 2,589,632 (+)Ensembl
Ensembl Acc Id: ENST00000498083   ⟹   ENSP00000463127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,877 - 2,588,992 (+)Ensembl
Ensembl Acc Id: ENST00000537325   ⟹   ENSP00000443605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12,586,796 - 2,589,947 (+)Ensembl
RefSeq Acc Id: NM_001195736   ⟹   NP_001182665
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,505,268 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001195737   ⟹   NP_001182666
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,505,268 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001195738   ⟹   NP_001182667
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,505,268 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001195740   ⟹   NP_001182669
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,505,268 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001195741   ⟹   NP_001182670
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,505,268 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152371   ⟹   NP_689584
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
Build 3612,508,109 - 2,512,762 (+)NCBI Archive
Celera163,098 - 67,751 (-)RGD
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,505,268 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036637
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,523 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,504,978 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,168 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036638
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,523 - 2,591,468 (+)NCBI
GRCh3712,517,899 - 2,522,908 (+)ENTREZGENE
HuRef11,797,135 - 1,802,144 (+)ENTREZGENE
CHM1_112,504,978 - 2,509,987 (+)NCBI
T2T-CHM13v2.012,028,168 - 2,033,113 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710354   ⟹   XP_006710417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540665   ⟹   XP_011538967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445405   ⟹   XP_047301361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
RefSeq Acc Id: XM_047445406   ⟹   XP_047301362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,777 - 2,591,468 (+)NCBI
RefSeq Acc Id: XM_054334333   ⟹   XP_054190308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
RefSeq Acc Id: XM_054334334   ⟹   XP_054190309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
RefSeq Acc Id: XM_054334335   ⟹   XP_054190310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
RefSeq Acc Id: XM_054334336   ⟹   XP_054190311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012,028,422 - 2,033,113 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001182665 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182666 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182667 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182669 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182670 (Get FASTA)   NCBI Sequence Viewer  
  NP_689584 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710417 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538967 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301361 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301362 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184577 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184578 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184579 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190311 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22547 (Get FASTA)   NCBI Sequence Viewer  
  AAP97295 (Get FASTA)   NCBI Sequence Viewer  
  BAC11511 (Get FASTA)   NCBI Sequence Viewer  
  BAF84597 (Get FASTA)   NCBI Sequence Viewer  
  BAG51845 (Get FASTA)   NCBI Sequence Viewer  
  BAG61031 (Get FASTA)   NCBI Sequence Viewer  
  BAG64537 (Get FASTA)   NCBI Sequence Viewer  
  BAH14614 (Get FASTA)   NCBI Sequence Viewer  
  EAW56083 (Get FASTA)   NCBI Sequence Viewer  
  EAW56084 (Get FASTA)   NCBI Sequence Viewer  
  EAW56085 (Get FASTA)   NCBI Sequence Viewer  
  EAW56086 (Get FASTA)   NCBI Sequence Viewer  
  EAW56087 (Get FASTA)   NCBI Sequence Viewer  
  EAW56088 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000367681
  ENSP00000367681.5
  ENSP00000367682
  ENSP00000367682.6
  ENSP00000367684
  ENSP00000367684.2
  ENSP00000394405
  ENSP00000394405.4
  ENSP00000413218
  ENSP00000413218.3
  ENSP00000443605
  ENSP00000443605.2
  ENSP00000462185.2
  ENSP00000463127.2
  ENSP00000477600.1
  ENSP00000479869.1
  ENSP00000485906.1
  ENSP00000485959.1
  ENSP00000485968.1
  ENSP00000487007.1
  ENSP00000487468.1
  ENSP00000487590.1
GenBank Protein Q8TBF2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_689584   ⟸   NM_152371
- Peptide Label: isoform b
- UniProtKB: Q8TBF2 (UniProtKB/Swiss-Prot),   J3KQD0 (UniProtKB/Swiss-Prot),   B9DI92 (UniProtKB/Swiss-Prot),   B9DI90 (UniProtKB/Swiss-Prot),   B7ZAC8 (UniProtKB/Swiss-Prot),   B4E0S5 (UniProtKB/Swiss-Prot),   B4DQR9 (UniProtKB/Swiss-Prot),   B3KPY3 (UniProtKB/Swiss-Prot),   A8K793 (UniProtKB/Swiss-Prot),   Q8N2H0 (UniProtKB/Swiss-Prot),   A0A2P0CTB1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182665   ⟸   NM_001195736
- Peptide Label: isoform a
- UniProtKB: A0A0A0MT35 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182666   ⟸   NM_001195737
- Peptide Label: isoform c
- UniProtKB: J3KRV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182667   ⟸   NM_001195738
- Peptide Label: isoform d
- UniProtKB: J3KPF6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182669   ⟸   NM_001195740
- Peptide Label: isoform e
- UniProtKB: A0A0A0MRV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182670   ⟸   NM_001195741
- Peptide Label: isoform f
- UniProtKB: A0A2P0CTH9 (UniProtKB/TrEMBL),   A0A2P0CU24 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710417   ⟸   XM_006710354
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011538967   ⟸   XM_011540665
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MT35 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000462185   ⟸   ENST00000465233
Ensembl Acc Id: ENSP00000367684   ⟸   ENST00000378427
Ensembl Acc Id: ENSP00000367682   ⟸   ENST00000378425
Ensembl Acc Id: ENSP00000367681   ⟸   ENST00000378424
Ensembl Acc Id: ENSP00000413218   ⟸   ENST00000444521
Ensembl Acc Id: ENSP00000463127   ⟸   ENST00000498083
Ensembl Acc Id: ENSP00000443605   ⟸   ENST00000537325
Ensembl Acc Id: ENSP00000394405   ⟸   ENST00000419916
RefSeq Acc Id: XP_047301361   ⟸   XM_047445405
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301362   ⟸   XM_047445406
- Peptide Label: isoform X4
- UniProtKB: J3KPF6 (UniProtKB/TrEMBL),   J3KPF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190308   ⟸   XM_054334333
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190310   ⟸   XM_054334335
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MT35 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190311   ⟸   XM_054334336
- Peptide Label: isoform X4
- UniProtKB: J3KPF6 (UniProtKB/TrEMBL),   J3KPF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190309   ⟸   XM_054334334
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TBF2-F1-model_v2 AlphaFold Q8TBF2 1-198 view protein structure

Promoters
RGD ID:6784832
Promoter ID:HG_KWN:305
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378427,   OTTHUMT00000002401,   OTTHUMT00000002402,   OTTHUMT00000002404,   OTTHUMT00000002406,   OTTHUMT00000002407,   OTTHUMT00000002408,   OTTHUMT00000002409,   OTTHUMT00000002410,   OTTHUMT00000002411,   OTTHUMT00000002412,   OTTHUMT00000002413,   UC001AJV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612,506,931 - 2,508,457 (+)MPROMDB
RGD ID:6853834
Promoter ID:EPDNEW_H82
Type:initiation region
Name:FAM213B_2
Description:family with sequence similarity 213 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H83  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,523 - 2,586,583EPDNEW
RGD ID:6853836
Promoter ID:EPDNEW_H83
Type:initiation region
Name:FAM213B_1
Description:family with sequence similarity 213 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H82  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812,586,798 - 2,586,858EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28390 AgrOrtholog
COSMIC PRXL2B COSMIC
Ensembl Genes ENSG00000157870 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275125 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378424 ENTREZGENE
  ENST00000378424.9 UniProtKB/Swiss-Prot
  ENST00000378425 ENTREZGENE
  ENST00000378425.9 UniProtKB/TrEMBL
  ENST00000378427 ENTREZGENE
  ENST00000378427.6 UniProtKB/Swiss-Prot
  ENST00000419916 ENTREZGENE
  ENST00000419916.8 UniProtKB/Swiss-Prot
  ENST00000444521 ENTREZGENE
  ENST00000444521.6 UniProtKB/TrEMBL
  ENST00000465233.6 UniProtKB/TrEMBL
  ENST00000484099 ENTREZGENE
  ENST00000498083.2 UniProtKB/TrEMBL
  ENST00000537325 ENTREZGENE
  ENST00000537325.6 UniProtKB/TrEMBL
  ENST00000616280.4 UniProtKB/TrEMBL
  ENST00000617400.1 UniProtKB/TrEMBL
  ENST00000626354.2 UniProtKB/TrEMBL
  ENST00000627654.2 UniProtKB/TrEMBL
  ENST00000628389.2 UniProtKB/TrEMBL
  ENST00000629512.2 UniProtKB/TrEMBL
  ENST00000630439.2 UniProtKB/TrEMBL
  ENST00000630935.2 UniProtKB/TrEMBL
GTEx ENSG00000157870 GTEx
  ENSG00000275125 GTEx
HGNC ID HGNC:28390 ENTREZGENE
Human Proteome Map PRXL2B Human Proteome Map
InterPro PXL2A/B/C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 127281 ENTREZGENE
PANTHER PROSTAMIDE/PROSTAGLANDIN F SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AhpC-TSA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672477 PharmGKB
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRV4 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MT35 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JRR6_HUMAN UniProtKB/TrEMBL
  A0A0G2JSF1_HUMAN UniProtKB/TrEMBL
  A0A2P0CTB1 ENTREZGENE, UniProtKB/TrEMBL
  A0A2P0CTH9 ENTREZGENE, UniProtKB/TrEMBL
  A0A2P0CU24 ENTREZGENE, UniProtKB/TrEMBL
  A8K793 ENTREZGENE
  B3KPY3 ENTREZGENE
  B4DQR9 ENTREZGENE
  B4E0S5 ENTREZGENE
  B7ZAC8 ENTREZGENE
  B9DI90 ENTREZGENE
  B9DI92 ENTREZGENE
  J3KPF5 ENTREZGENE, UniProtKB/TrEMBL
  J3KPF6 ENTREZGENE, UniProtKB/TrEMBL
  J3KQD0 ENTREZGENE
  J3KRV9 ENTREZGENE, UniProtKB/TrEMBL
  J3QKK8_HUMAN UniProtKB/TrEMBL
  PXL2B_HUMAN UniProtKB/Swiss-Prot
  Q8N2H0 ENTREZGENE
  Q8TBF2 ENTREZGENE
UniProt Secondary A8K793 UniProtKB/Swiss-Prot
  B3KPY3 UniProtKB/Swiss-Prot
  B4DQR9 UniProtKB/Swiss-Prot
  B4E0S5 UniProtKB/Swiss-Prot
  B7ZAC8 UniProtKB/Swiss-Prot
  B9DI90 UniProtKB/Swiss-Prot
  B9DI92 UniProtKB/Swiss-Prot
  J3KQD0 UniProtKB/Swiss-Prot
  Q8N2H0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-07-24 PRXL2B  peroxiredoxin like 2B  FAM213B  family with sequence similarity 213 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM213B  family with sequence similarity 213 member B    family with sequence similarity 213, member B  Symbol and/or name change 5135510 APPROVED
2011-11-29 FAM213B  family with sequence similarity 213, member B  C1orf93  chromosome 1 open reading frame 93  Symbol and/or name change 5135510 APPROVED