UBN1 (ubinuclein 1) - Rat Genome Database

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Gene: UBN1 (ubinuclein 1) Homo sapiens
Analyze
Symbol: UBN1
Name: ubinuclein 1
RGD ID: 1323115
HGNC Page HGNC:12506
Description: Predicted to enable DNA binding activity. Involved in nucleosome assembly. Located in centriolar satellite and nuclear body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HIRA-binding protein; ubinuclein-1; ubiquitously expressed nuclear protein; VT; VT4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100533618  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,847,481 - 4,882,401 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,846,665 - 4,882,401 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,897,482 - 4,932,402 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,837,913 - 4,872,364 (+)NCBINCBI36Build 36hg18NCBI36
Build 34164,842,216 - 4,872,364NCBI
Celera165,106,685 - 5,141,135 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,864,193 - 4,898,486 (+)NCBIHuRef
CHM1_1164,898,810 - 4,933,255 (+)NCBICHM1_1
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
bicellular tight junction  (IEA,ISS)
centriolar satellite  (IDA)
nuclear body  (IDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IBA,IDA,IEA)
PML body  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10725330   PMID:14702039   PMID:14718166   PMID:15146197   PMID:15302935   PMID:16344560   PMID:17081983   PMID:18823282   PMID:19029251   PMID:19389623   PMID:20467437  
PMID:21047901   PMID:21084479   PMID:21807893   PMID:21873635   PMID:22195966   PMID:22245583   PMID:22401310   PMID:22939629   PMID:23602572   PMID:24981860   PMID:25281560   PMID:25544563  
PMID:25665578   PMID:26159857   PMID:26496610   PMID:27217568   PMID:27871933   PMID:28514442   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:30021884   PMID:30082790  
PMID:30804502   PMID:30833792   PMID:31040182   PMID:32416067   PMID:32513696   PMID:32694731   PMID:32908313   PMID:33961781   PMID:34079125   PMID:34795231   PMID:35044719   PMID:35140242  
PMID:35439318   PMID:35748872   PMID:36089195   PMID:36373674   PMID:36543142   PMID:37071664   PMID:37689310   PMID:37949972  


Genomics

Comparative Map Data
UBN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,847,481 - 4,882,401 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,846,665 - 4,882,401 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,897,482 - 4,932,402 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,837,913 - 4,872,364 (+)NCBINCBI36Build 36hg18NCBI36
Build 34164,842,216 - 4,872,364NCBI
Celera165,106,685 - 5,141,135 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,864,193 - 4,898,486 (+)NCBIHuRef
CHM1_1164,898,810 - 4,933,255 (+)NCBICHM1_1
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBIT2T-CHM13v2.0
Ubn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,867,921 - 4,904,153 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,867,921 - 4,904,153 (+)EnsemblGRCm39 Ensembl
GRCm38165,050,057 - 5,086,289 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,050,057 - 5,086,289 (+)EnsemblGRCm38mm10GRCm38
MGSCv37165,050,161 - 5,086,378 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,970,410 - 5,001,608 (+)NCBIMGSCv36mm8
Celera165,681,405 - 5,717,620 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.49NCBI
Ubn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,003,036 - 11,038,466 (-)NCBIGRCr8
mRatBN7.21010,496,576 - 10,532,010 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,496,576 - 10,532,010 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,204,646 - 15,239,996 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,693,466 - 14,728,816 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,362,719 - 10,398,102 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,690,224 - 10,725,655 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,690,224 - 10,725,655 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,457,239 - 9,492,668 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,612,480 - 10,647,870 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11010,612,474 - 10,647,858 (-)NCBI
Celera109,460,580 - 9,495,788 (-)NCBICelera
Cytogenetic Map10q12NCBI
Ubn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,627,530 - 12,654,159 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,627,530 - 12,654,159 (-)NCBIChiLan1.0ChiLan1.0
UBN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,375,842 - 5,410,621 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,166,465 - 9,200,785 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,771,623 - 3,806,575 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,936,864 - 4,970,992 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,942,191 - 4,970,986 (+)Ensemblpanpan1.1panPan2
UBN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,542,266 - 36,581,789 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,544,405 - 36,581,797 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha637,934,552 - 37,974,038 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,745,422 - 36,784,724 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,745,417 - 36,780,193 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,540,042 - 36,579,317 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,432,947 - 36,472,235 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,834,628 - 36,873,909 (-)NCBIUU_Cfam_GSD_1.0
Ubn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,950,527 - 106,980,674 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,795,968 - 4,826,137 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,795,974 - 4,826,217 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,512,313 - 37,555,203 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,512,306 - 37,555,255 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,518,208 - 38,536,586 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UBN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,518,369 - 4,554,687 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl54,525,081 - 4,552,465 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606826,103,022 - 26,140,180 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ubn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,693,403 - 2,720,305 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,693,270 - 2,720,305 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBN1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_001079514.2(UBN1):c.2822C>T (p.Ser941Phe) single nucleotide variant Malignant melanoma [RCV000063049] Chr16:4875232 [GRCh38]
Chr16:4925233 [GRCh37]
Chr16:4865234 [NCBI36]
Chr16:16p13.3		 not provided
NM_001079514.2(UBN1):c.2823C>A (p.Ser941=) single nucleotide variant Malignant melanoma [RCV000063050] Chr16:4875233 [GRCh38]
Chr16:4925234 [GRCh37]
Chr16:4865235 [NCBI36]
Chr16:16p13.3		 not provided
NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) single nucleotide variant Non-immune hydrops fetalis [RCV000170572] Chr16:4874766 [GRCh38]
Chr16:4924767 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1 copy number loss See cases [RCV000446335] Chr16:4740929..4950995 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001079514.3(UBN1):c.2673A>C (p.Ser891=) single nucleotide variant not provided [RCV000965321] Chr16:4875083 [GRCh38]
Chr16:4925084 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.2016G>A (p.Ser672=) single nucleotide variant not provided [RCV000881896] Chr16:4874426 [GRCh38]
Chr16:4924427 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.1569G>C (p.Leu523=) single nucleotide variant not provided [RCV000927734] Chr16:4871164 [GRCh38]
Chr16:4921165 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001079514.3(UBN1):c.1869G>C (p.Leu623Phe) single nucleotide variant not provided [RCV000901425] Chr16:4874279 [GRCh38]
Chr16:4924280 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.3237C>T (p.Pro1079=) single nucleotide variant not provided [RCV000961026] Chr16:4877083 [GRCh38]
Chr16:4927084 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.1431-4G>A single nucleotide variant not provided [RCV000962540] Chr16:4870840 [GRCh38]
Chr16:4920841 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.2494G>C (p.Ala832Pro) single nucleotide variant not provided [RCV000947674] Chr16:4874904 [GRCh38]
Chr16:4924905 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.1923C>T (p.Leu641=) single nucleotide variant not provided [RCV000962386] Chr16:4874333 [GRCh38]
Chr16:4924334 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001079514.3(UBN1):c.2574A>G (p.Ala858=) single nucleotide variant not provided [RCV000931784] Chr16:4874984 [GRCh38]
Chr16:4924985 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001079514.3(UBN1):c.868C>G (p.Leu290Val) single nucleotide variant not provided [RCV000953718] Chr16:4860860 [GRCh38]
Chr16:4910861 [GRCh37]
Chr16:16p13.3		 benign
NM_001079514.3(UBN1):c.378C>T (p.Ile126=) single nucleotide variant not provided [RCV000894220] Chr16:4858609 [GRCh38]
Chr16:4908610 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001079514.3(UBN1):c.3342G>A (p.Pro1114=) single nucleotide variant not provided [RCV000957369] Chr16:4877461 [GRCh38]
Chr16:4927462 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001079514.3(UBN1):c.3111C>T (p.Ala1037=) single nucleotide variant not provided [RCV003417623] Chr16:4876957 [GRCh38]
Chr16:4926958 [GRCh37]
Chr16:16p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5019
Count of miRNA genes:1117
Interacting mature miRNAs:1415
Transcripts:ENST00000262376, ENST00000396658, ENST00000545171, ENST00000585857, ENST00000586152, ENST00000586716, ENST00000587027, ENST00000589191, ENST00000590769, ENST00000592120
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D16S2965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,922,940 - 4,923,217UniSTSGRCh37
Build 36164,862,941 - 4,863,218RGDNCBI36
Celera165,131,712 - 5,131,989RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,889,063 - 4,889,340UniSTS
Whitehead-RH Map1627.9UniSTS
RH92549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,912,563 - 4,912,700UniSTSGRCh37
Build 36164,852,564 - 4,852,701RGDNCBI36
Celera165,121,335 - 5,121,472RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,878,686 - 4,878,823UniSTS
GeneMap99-GB4 RH Map1661.63UniSTS
RH65400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,929,573 - 4,929,719UniSTSGRCh37
Build 36164,869,574 - 4,869,720RGDNCBI36
Celera165,138,345 - 5,138,491RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,895,696 - 4,895,842UniSTS
RH65233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,932,616 - 4,932,778UniSTSGRCh37
Build 36164,872,617 - 4,872,779RGDNCBI36
Celera165,141,387 - 5,141,549RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,898,738 - 4,898,900UniSTS
D16S2903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,930,871 - 4,931,077UniSTSGRCh37
Build 36164,870,872 - 4,871,078RGDNCBI36
Celera165,139,643 - 5,139,849RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,896,994 - 4,897,200UniSTS
RH15620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,932,119 - 4,932,283UniSTSGRCh37
Build 36164,872,120 - 4,872,284RGDNCBI36
Celera165,140,891 - 5,141,055RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,898,242 - 4,898,406UniSTS
GeneMap99-GB4 RH Map1665.92UniSTS
UBN1__5179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,931,687 - 4,932,389UniSTSGRCh37
Build 36164,871,688 - 4,872,390RGDNCBI36
Celera165,140,459 - 5,141,161RGD
HuRef164,897,810 - 4,898,512UniSTS
D16S3214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,932,699 - 4,932,850UniSTSGRCh37
Build 36164,872,700 - 4,872,851RGDNCBI36
Celera165,141,470 - 5,141,621RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,898,821 - 4,898,972UniSTS
GeneMap99-G3 RH Map16208.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2284 2336 1347 297 1803 141 4120 1752 1707 253 1434 1592 169 1177 2560 3
Low 148 649 376 325 146 323 235 441 1999 165 16 16 2 27 228 1
Below cutoff 2 1 1 5 1 8 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA742357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF108453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF108460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF108461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU120544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW385352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG822152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ009566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ186272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB242197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN428658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV574190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV574862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262376   ⟹   ENSP00000262376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,847,481 - 4,882,401 (+)Ensembl
RefSeq Acc Id: ENST00000396658   ⟹   ENSP00000379894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,852,215 - 4,882,360 (+)Ensembl
RefSeq Acc Id: ENST00000585857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,860,745 - 4,870,572 (+)Ensembl
RefSeq Acc Id: ENST00000586152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,876,948 - 4,877,813 (+)Ensembl
RefSeq Acc Id: ENST00000586716   ⟹   ENSP00000465309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,870,888 - 4,874,968 (+)Ensembl
RefSeq Acc Id: ENST00000587027   ⟹   ENSP00000468143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,858,574 - 4,868,903 (+)Ensembl
RefSeq Acc Id: ENST00000589191   ⟹   ENSP00000468776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,875,272 - 4,880,445 (+)Ensembl
RefSeq Acc Id: ENST00000590769   ⟹   ENSP00000468740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,848,380 - 4,880,294 (+)Ensembl
RefSeq Acc Id: ENST00000592120   ⟹   ENSP00000467942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,846,665 - 4,859,129 (+)Ensembl
RefSeq Acc Id: NM_001079514   ⟹   NP_001072982
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,882,401 (+)NCBI
GRCh37164,896,666 - 4,932,363 (+)NCBI
Build 36164,837,913 - 4,872,364 (+)NCBI Archive
Celera165,106,685 - 5,141,135 (+)RGD
HuRef164,863,913 - 4,898,525 (+)NCBI
CHM1_1164,898,530 - 4,933,294 (+)NCBI
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288656   ⟹   NP_001275585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,848,380 - 4,882,401 (+)NCBI
HuRef164,863,913 - 4,898,525 (+)NCBI
CHM1_1164,899,279 - 4,933,294 (+)NCBI
T2T-CHM13v2.0164,877,870 - 4,911,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255277   ⟹   XP_005255334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,877,852 (+)NCBI
GRCh37164,896,666 - 4,932,363 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255278   ⟹   XP_005255335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,848,380 - 4,877,852 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255279   ⟹   XP_005255336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,877,852 (+)NCBI
GRCh37164,896,666 - 4,932,363 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522465   ⟹   XP_011520767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,882,401 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522467   ⟹   XP_011520769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,872,168 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023190   ⟹   XP_016878679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,882,401 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023192   ⟹   XP_016878681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,872,278 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434037   ⟹   XP_047289993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,848,380 - 4,882,401 (+)NCBI
RefSeq Acc Id: XM_047434038   ⟹   XP_047289994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,848,380 - 4,877,852 (+)NCBI
RefSeq Acc Id: XM_047434039   ⟹   XP_047289995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,848,380 - 4,882,401 (+)NCBI
RefSeq Acc Id: XM_047434040   ⟹   XP_047289996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,882,401 (+)NCBI
RefSeq Acc Id: XM_047434041   ⟹   XP_047289997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,860,713 - 4,877,852 (+)NCBI
RefSeq Acc Id: XM_047434042   ⟹   XP_047289998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,860,890 - 4,882,401 (+)NCBI
RefSeq Acc Id: XM_054380189   ⟹   XP_054236164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,877,870 - 4,911,890 (+)NCBI
RefSeq Acc Id: XM_054380190   ⟹   XP_054236165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBI
RefSeq Acc Id: XM_054380191   ⟹   XP_054236166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,877,870 - 4,911,890 (+)NCBI
RefSeq Acc Id: XM_054380192   ⟹   XP_054236167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBI
RefSeq Acc Id: XM_054380193   ⟹   XP_054236168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBI
RefSeq Acc Id: XM_054380194   ⟹   XP_054236169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,890,213 - 4,911,890 (+)NCBI
RefSeq Acc Id: XM_054380195   ⟹   XP_054236170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,901,764 (+)NCBI
RefSeq Acc Id: XM_054380196   ⟹   XP_054236171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,901,654 (+)NCBI
RefSeq Acc Id: XR_007064874
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,882,401 (+)NCBI
RefSeq Acc Id: XR_007064875
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,481 - 4,882,401 (+)NCBI
RefSeq Acc Id: XR_008489082
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBI
RefSeq Acc Id: XR_008489083
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,876,971 - 4,911,890 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001072982 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275585 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255334 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255335 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255336 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520767 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520769 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878679 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878681 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289993 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289994 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289995 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289996 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289997 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289998 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236165 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236166 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236167 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236168 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236169 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236170 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236171 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA64188 (Get FASTA)   NCBI Sequence Viewer  
  AAF31755 (Get FASTA)   NCBI Sequence Viewer  
  AAF31756 (Get FASTA)   NCBI Sequence Viewer  
  AAF34869 (Get FASTA)   NCBI Sequence Viewer  
  BAH13219 (Get FASTA)   NCBI Sequence Viewer  
  EAW85249 (Get FASTA)   NCBI Sequence Viewer  
  EAW85250 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262376
  ENSP00000262376.5
  ENSP00000379894
  ENSP00000379894.3
  ENSP00000465309.1
  ENSP00000467942.1
  ENSP00000468143.1
  ENSP00000468740
  ENSP00000468740.1
  ENSP00000468776.1
GenBank Protein Q9NPG3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001072982   ⟸   NM_001079514
- Peptide Label: isoform a
- UniProtKB: Q13079 (UniProtKB/Swiss-Prot),   D3DUE8 (UniProtKB/Swiss-Prot),   B7Z6D3 (UniProtKB/Swiss-Prot),   Q9P1P7 (UniProtKB/Swiss-Prot),   Q9NPG3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255335   ⟸   XM_005255278
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005255334   ⟸   XM_005255277
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005255336   ⟸   XM_005255279
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001275585   ⟸   NM_001288656
- Peptide Label: isoform b
- UniProtKB: Q9NPG3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520767   ⟸   XM_011522465
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011520769   ⟸   XM_011522467
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016878679   ⟸   XM_017023190
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016878681   ⟸   XM_017023192
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000465309   ⟸   ENST00000586716
RefSeq Acc Id: ENSP00000468143   ⟸   ENST00000587027
RefSeq Acc Id: ENSP00000468776   ⟸   ENST00000589191
RefSeq Acc Id: ENSP00000468740   ⟸   ENST00000590769
RefSeq Acc Id: ENSP00000262376   ⟸   ENST00000262376
RefSeq Acc Id: ENSP00000467942   ⟸   ENST00000592120
RefSeq Acc Id: ENSP00000379894   ⟸   ENST00000396658
RefSeq Acc Id: XP_047289996   ⟸   XM_047434040
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047289993   ⟸   XM_047434037
- Peptide Label: isoform X2
- UniProtKB: Q9NPG3 (UniProtKB/Swiss-Prot),   Q13079 (UniProtKB/Swiss-Prot),   D3DUE8 (UniProtKB/Swiss-Prot),   B7Z6D3 (UniProtKB/Swiss-Prot),   Q9P1P7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289995   ⟸   XM_047434039
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047289994   ⟸   XM_047434038
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047289997   ⟸   XM_047434041
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047289998   ⟸   XM_047434042
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054236167   ⟸   XM_054380192
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236165   ⟸   XM_054380190
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236168   ⟸   XM_054380193
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236170   ⟸   XM_054380195
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054236171   ⟸   XM_054380196
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054236164   ⟸   XM_054380189
- Peptide Label: isoform X2
- UniProtKB: Q9NPG3 (UniProtKB/Swiss-Prot),   Q13079 (UniProtKB/Swiss-Prot),   D3DUE8 (UniProtKB/Swiss-Prot),   B7Z6D3 (UniProtKB/Swiss-Prot),   Q9P1P7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236166   ⟸   XM_054380191
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236169   ⟸   XM_054380194
- Peptide Label: isoform X8
Protein Domains
Hpc2-related   Ubinuclein middle

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NPG3-F1-model_v2 AlphaFold Q9NPG3 1-1134 view protein structure

Promoters
RGD ID:6793532
Promoter ID:HG_KWN:22950
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_001079514
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,837,346 - 4,838,397 (+)MPROMDB
RGD ID:7231243
Promoter ID:EPDNEW_H21367
Type:initiation region
Name:UBN1_1
Description:ubinuclein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,847,719 - 4,847,779EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12506 AgrOrtholog
COSMIC UBN1 COSMIC
Ensembl Genes ENSG00000118900 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262376 ENTREZGENE
  ENST00000262376.11 UniProtKB/Swiss-Prot
  ENST00000396658 ENTREZGENE
  ENST00000396658.8 UniProtKB/Swiss-Prot
  ENST00000586716.1 UniProtKB/TrEMBL
  ENST00000587027.1 UniProtKB/TrEMBL
  ENST00000589191.1 UniProtKB/TrEMBL
  ENST00000590769 ENTREZGENE
  ENST00000590769.5 UniProtKB/Swiss-Prot
  ENST00000592120.5 UniProtKB/TrEMBL
GTEx ENSG00000118900 GTEx
HGNC ID HGNC:12506 ENTREZGENE
Human Proteome Map UBN1 Human Proteome Map
InterPro HRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBN_middle_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29855 UniProtKB/Swiss-Prot
NCBI Gene 29855 ENTREZGENE
OMIM 609771 OMIM
PANTHER CAPZ-INTERACTING PROTEIN AND RELATED PROTEINS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21669:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBN_AB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37153 PharmGKB
UniProt B7Z6D3 ENTREZGENE
  D3DUE8 ENTREZGENE
  K7EJT1_HUMAN UniProtKB/TrEMBL
  K7EQR1_HUMAN UniProtKB/TrEMBL
  K7ER78_HUMAN UniProtKB/TrEMBL
  K7ESM4_HUMAN UniProtKB/TrEMBL
  Q13079 ENTREZGENE
  Q9NPG3 ENTREZGENE
  Q9P1P7 ENTREZGENE
  UBN1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z6D3 UniProtKB/Swiss-Prot
  D3DUE8 UniProtKB/Swiss-Prot
  Q13079 UniProtKB/Swiss-Prot
  Q9P1P7 UniProtKB/Swiss-Prot