USP44 (ubiquitin specific peptidase 44) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: USP44 (ubiquitin specific peptidase 44) Homo sapiens
Analyze
Symbol: USP44
Name: ubiquitin specific peptidase 44
RGD ID: 1317864
HGNC Page HGNC:20064
Description: Enables cysteine-type deubiquitinase activity. Involved in several processes, including antiviral innate immune response; negative regulation of mitotic metaphase/anaphase transition; and negative regulation of ubiquitin protein ligase activity. Is active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deubiquitinating enzyme 44; DKFZp434D0127; FLJ14528; ubiquitin carboxyl-terminal hydrolase 44; ubiquitin specific protease 44; ubiquitin thioesterase 44; ubiquitin thiolesterase 44; ubiquitin-specific-processing protease 44
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
GRCh381295,516,560 - 95,551,681 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1295,516,560 - 95,551,476 (-)EnsemblGRCh38hg38GRCh38
GRCh371295,910,336 - 95,945,252 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361294,435,010 - 94,469,394 (-)NCBINCBI36Build 36hg18NCBI36
Build 341294,414,016 - 94,447,695NCBI
Celera1295,582,001 - 95,617,069 (-)NCBICelera
Cytogenetic Map12q22NCBI
HuRef1292,978,712 - 93,013,655 (-)NCBIHuRef
CHM1_11295,875,781 - 95,910,674 (-)NCBICHM1_1
T2T-CHM13v2.01295,497,607 - 95,532,730 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. H2A-DUBbing the mammalian epigenome: expanding frontiers for histone H2A deubiquitinating enzymes in cell biology and physiology. Belle JI and Nijnik A, Int J Biochem Cell Biol. 2014 May;50:161-74. doi: 10.1016/j.biocel.2014.03.004. Epub 2014 Mar 16.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12838346   PMID:14702039   PMID:14715245   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901  
PMID:17443180   PMID:19615732   PMID:20402667   PMID:21853124   PMID:21873635   PMID:22041458   PMID:22692537   PMID:23615962   PMID:24837038   PMID:26232424   PMID:26912792   PMID:27880911  
PMID:28492742   PMID:28514442   PMID:28520534   PMID:28544703   PMID:28938551   PMID:29669287   PMID:30622230   PMID:31197957   PMID:31405213   PMID:31968013   PMID:32076268   PMID:32164618  
PMID:32285989   PMID:32445925   PMID:32644293   PMID:32934196   PMID:32956592   PMID:33647455   PMID:33669244   PMID:33937266   PMID:33961781   PMID:34732716   PMID:35079021   PMID:36483601  
PMID:37204480   PMID:37752233   PMID:37816258   PMID:38775808  


Genomics

Comparative Map Data
USP44
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381295,516,560 - 95,551,681 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1295,516,560 - 95,551,476 (-)EnsemblGRCh38hg38GRCh38
GRCh371295,910,336 - 95,945,252 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361294,435,010 - 94,469,394 (-)NCBINCBI36Build 36hg18NCBI36
Build 341294,414,016 - 94,447,695NCBI
Celera1295,582,001 - 95,617,069 (-)NCBICelera
Cytogenetic Map12q22NCBI
HuRef1292,978,712 - 93,013,655 (-)NCBIHuRef
CHM1_11295,875,781 - 95,910,674 (-)NCBICHM1_1
T2T-CHM13v2.01295,497,607 - 95,532,730 (-)NCBIT2T-CHM13v2.0
Usp44
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391093,655,831 - 93,696,792 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1093,667,417 - 93,693,950 (+)EnsemblGRCm39 Ensembl
GRCm381093,819,969 - 93,859,425 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1093,831,555 - 93,858,088 (+)EnsemblGRCm38mm10GRCm38
MGSCv371093,294,300 - 93,311,283 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361093,261,354 - 93,278,337 (+)NCBIMGSCv36mm8
Celera1095,801,275 - 95,819,046 (+)NCBICelera
Cytogenetic Map10C2NCBI
cM Map1048.67NCBI
Usp44
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8730,251,142 - 30,301,185 (+)NCBIGRCr8
mRatBN7.2728,364,169 - 28,412,039 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl728,364,033 - 28,410,053 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx730,354,579 - 30,400,607 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0732,516,806 - 32,562,843 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0732,294,256 - 32,340,284 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0734,714,293 - 34,759,352 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl734,744,483 - 34,759,206 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0734,773,627 - 34,818,325 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4730,898,472 - 30,971,342 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1730,965,952 - 30,991,469 (+)NCBI
Celera725,461,222 - 25,507,052 (+)NCBICelera
Cytogenetic Map7q13NCBI
Usp44
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540531,977,602 - 32,006,810 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540531,977,045 - 32,006,733 (-)NCBIChiLan1.0ChiLan1.0
USP44
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210103,592,727 - 103,628,336 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112103,589,117 - 103,624,726 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01293,111,293 - 93,146,889 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11296,503,794 - 96,539,321 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1296,503,794 - 96,536,094 (-)Ensemblpanpan1.1panPan2
USP44
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11535,401,486 - 35,454,351 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1535,402,207 - 35,414,261 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1535,788,165 - 35,841,019 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01536,066,187 - 36,119,066 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1536,066,193 - 36,093,614 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11535,339,057 - 35,391,905 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01535,433,598 - 35,486,456 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01535,696,753 - 35,749,591 (-)NCBIUU_Cfam_GSD_1.0
Usp44
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494524,527,677 - 24,572,367 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650711,660,129 - 11,681,366 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650711,663,069 - 11,692,174 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USP44
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl587,875,851 - 87,889,680 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1587,864,410 - 87,890,913 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2592,044,399 - 92,091,188 (+)NCBISscrofa10.2Sscrofa10.2susScr3
USP44
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11190,915,107 - 90,950,142 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1190,916,677 - 90,947,456 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037154,220,917 - 154,254,742 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Usp44
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475011,710,218 - 11,724,529 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475011,697,919 - 11,725,421 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USP44
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032147.5(USP44):c.213G>T (p.Glu71Asp) single nucleotide variant not provided [RCV000122609] Chr12:95534044 [GRCh38]
Chr12:95927820 [GRCh37]
Chr12:12q22
not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_032147.5(USP44):c.149G>A (p.Gly50Glu) single nucleotide variant not specified [RCV004293187] Chr12:95534108 [GRCh38]
Chr12:95927884 [GRCh37]
Chr12:12q22
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q21.33-22(chr12:91621655-96014946)x1 copy number loss not provided [RCV000737994] Chr12:91621655..96014946 [GRCh37]
Chr12:12q21.33-22
uncertain significance
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 copy number gain not provided [RCV000750524] Chr12:94881995..103635998 [GRCh37]
Chr12:12q22-23.2
pathogenic
NM_032147.5(USP44):c.105C>G (p.Thr35=) single nucleotide variant not provided [RCV000960477] Chr12:95534152 [GRCh38]
Chr12:95927928 [GRCh37]
Chr12:12q22
benign
NM_032147.5(USP44):c.708G>A (p.Thr236=) single nucleotide variant not provided [RCV000964516] Chr12:95533549 [GRCh38]
Chr12:95927325 [GRCh37]
Chr12:12q22
benign
NM_032147.5(USP44):c.362G>A (p.Arg121Gln) single nucleotide variant not specified [RCV004295328] Chr12:95533895 [GRCh38]
Chr12:95927671 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1042A>G (p.Arg348Gly) single nucleotide variant not provided [RCV000949784] Chr12:95533215 [GRCh38]
Chr12:95926991 [GRCh37]
Chr12:12q22
benign
NM_032147.5(USP44):c.1087G>A (p.Gly363Ser) single nucleotide variant USP44-related disorder [RCV003968078]|not provided [RCV000888159] Chr12:95533170 [GRCh38]
Chr12:95926946 [GRCh37]
Chr12:12q22
benign
NM_032147.5(USP44):c.873_886delinsT (p.Leu291fs) indel Intellectual disability, moderate [RCV001089806] Chr12:95533371..95533384 [GRCh38]
Chr12:95927147..95927160 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.581G>A (p.Arg194Gln) single nucleotide variant not specified [RCV004224237] Chr12:95533676 [GRCh38]
Chr12:95927452 [GRCh37]
Chr12:12q22
likely benign
NM_032147.5(USP44):c.1369C>T (p.Leu457Phe) single nucleotide variant not specified [RCV004146866] Chr12:95532888 [GRCh38]
Chr12:95926664 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.361C>T (p.Arg121Trp) single nucleotide variant not specified [RCV004238850] Chr12:95533896 [GRCh38]
Chr12:95927672 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.775G>T (p.Asp259Tyr) single nucleotide variant not specified [RCV004118924] Chr12:95533482 [GRCh38]
Chr12:95927258 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1798A>T (p.Met600Leu) single nucleotide variant not specified [RCV004096476] Chr12:95521138 [GRCh38]
Chr12:95914914 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.251A>G (p.Asp84Gly) single nucleotide variant not specified [RCV004245700] Chr12:95534006 [GRCh38]
Chr12:95927782 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.845G>T (p.Cys282Phe) single nucleotide variant not specified [RCV004144398] Chr12:95533412 [GRCh38]
Chr12:95927188 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.288G>C (p.Lys96Asn) single nucleotide variant not specified [RCV004156110] Chr12:95533969 [GRCh38]
Chr12:95927745 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1130A>G (p.Gln377Arg) single nucleotide variant not specified [RCV004214174] Chr12:95533127 [GRCh38]
Chr12:95926903 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.737T>C (p.Leu246Pro) single nucleotide variant not specified [RCV004226381] Chr12:95533520 [GRCh38]
Chr12:95927296 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1076G>A (p.Gly359Glu) single nucleotide variant not specified [RCV004146417] Chr12:95533181 [GRCh38]
Chr12:95926957 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1594G>A (p.Gly532Arg) single nucleotide variant not specified [RCV004101406] Chr12:95528837 [GRCh38]
Chr12:95922613 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.778T>C (p.Ser260Pro) single nucleotide variant not specified [RCV004114996] Chr12:95533479 [GRCh38]
Chr12:95927255 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.2056A>C (p.Lys686Gln) single nucleotide variant not specified [RCV004097342] Chr12:95518237 [GRCh38]
Chr12:95912013 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.2012A>T (p.Tyr671Phe) single nucleotide variant not specified [RCV004250588] Chr12:95518281 [GRCh38]
Chr12:95912057 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.553G>A (p.Val185Ile) single nucleotide variant not specified [RCV004279037] Chr12:95533704 [GRCh38]
Chr12:95927480 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.17C>T (p.Thr6Met) single nucleotide variant not specified [RCV004248233] Chr12:95534240 [GRCh38]
Chr12:95928016 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1075G>A (p.Gly359Arg) single nucleotide variant not specified [RCV004256622] Chr12:95533182 [GRCh38]
Chr12:95926958 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1098G>T (p.Met366Ile) single nucleotide variant not specified [RCV004296907] Chr12:95533159 [GRCh38]
Chr12:95926935 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.320G>A (p.Ser107Asn) single nucleotide variant not specified [RCV004351216] Chr12:95533937 [GRCh38]
Chr12:95927713 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.707C>T (p.Thr236Met) single nucleotide variant not specified [RCV004336773] Chr12:95533550 [GRCh38]
Chr12:95927326 [GRCh37]
Chr12:12q22
likely benign
NM_032147.5(USP44):c.1443A>T (p.Ala481=) single nucleotide variant USP44-related disorder [RCV003954403] Chr12:95528988 [GRCh38]
Chr12:95922764 [GRCh37]
Chr12:12q22
likely benign
NM_032147.5(USP44):c.492A>G (p.Thr164=) single nucleotide variant USP44-related disorder [RCV003969140]|not provided [RCV004704944] Chr12:95533765 [GRCh38]
Chr12:95927541 [GRCh37]
Chr12:12q22
likely benign
NM_032147.5(USP44):c.106G>A (p.Glu36Lys) single nucleotide variant USP44-related disorder [RCV003964249] Chr12:95534151 [GRCh38]
Chr12:95927927 [GRCh37]
Chr12:12q22
benign
NM_032147.5(USP44):c.6A>G (p.Leu2=) single nucleotide variant USP44-related disorder [RCV003952131] Chr12:95534251 [GRCh38]
Chr12:95928027 [GRCh37]
Chr12:12q22
likely benign
NM_032147.5(USP44):c.1489T>C (p.Leu497=) single nucleotide variant USP44-related disorder [RCV003949797] Chr12:95528942 [GRCh38]
Chr12:95922718 [GRCh37]
Chr12:12q22
likely benign
NM_032147.5(USP44):c.210G>T (p.Leu70Phe) single nucleotide variant not specified [RCV004477528] Chr12:95534047 [GRCh38]
Chr12:95927823 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.442A>T (p.Thr148Ser) single nucleotide variant not specified [RCV004477529] Chr12:95533815 [GRCh38]
Chr12:95927591 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.527A>C (p.Gln176Pro) single nucleotide variant not specified [RCV004477530] Chr12:95533730 [GRCh38]
Chr12:95927506 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.662A>G (p.Gln221Arg) single nucleotide variant not specified [RCV004477531] Chr12:95533595 [GRCh38]
Chr12:95927371 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1073G>A (p.Gly358Asp) single nucleotide variant not specified [RCV004477524] Chr12:95533184 [GRCh38]
Chr12:95926960 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.134C>T (p.Ser45Phe) single nucleotide variant not specified [RCV004477525] Chr12:95534123 [GRCh38]
Chr12:95927899 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1598A>G (p.Lys533Arg) single nucleotide variant not specified [RCV004477526] Chr12:95528833 [GRCh38]
Chr12:95922609 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1600A>G (p.Ile534Val) single nucleotide variant not specified [RCV004477527] Chr12:95528831 [GRCh38]
Chr12:95922607 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.1141C>G (p.Leu381Val) single nucleotide variant not specified [RCV004680641] Chr12:95533116 [GRCh38]
Chr12:95926892 [GRCh37]
Chr12:12q22
uncertain significance
NM_032147.5(USP44):c.590T>C (p.Leu197Ser) single nucleotide variant not specified [RCV004680642] Chr12:95533667 [GRCh38]
Chr12:95927443 [GRCh37]
Chr12:12q22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1645
Count of miRNA genes:764
Interacting mature miRNAs:870
Transcripts:ENST00000258499, ENST00000393091, ENST00000537435, ENST00000547951, ENST00000549639, ENST00000551837, ENST00000552237, ENST00000552440
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
407183940GWAS832916_HC-reactive protein measurement QTL GWAS832916 (human)6e-12C-reactive protein measurementblood C-reactive protein level (CMO:0003160)129553690595536906Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
407008807GWAS657783_HC-reactive protein measurement QTL GWAS657783 (human)1e-16C-reactive protein measurementblood C-reactive protein level (CMO:0003160)129551978695519787Human
407339008GWAS987984_HC-reactive protein measurement QTL GWAS987984 (human)5e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)129554185195541852Human
407110413GWAS759389_Hacute myeloid leukemia QTL GWAS759389 (human)2e-10acute myeloid leukemia129553398695533987Human
407198060GWAS847036_Hbody height QTL GWAS847036 (human)7e-12body height (VT:0001253)body height (CMO:0000106)129553478495534785Human
407066410GWAS715386_Hneck circumference QTL GWAS715386 (human)0.0000003neck morphology trait (VT:0011124)129554382895543829Human
407172905GWAS821881_Htype 2 diabetes mellitus QTL GWAS821881 (human)1e-10type 2 diabetes mellitus129553433795534338Human
407157239GWAS806215_Htype 2 diabetes mellitus QTL GWAS806215 (human)4e-08type 2 diabetes mellitus129553478495534785Human
407181137GWAS830113_HC-reactive protein measurement QTL GWAS830113 (human)1e-11C-reactive protein measurementblood C-reactive protein level (CMO:0003160)129553326195533262Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human
407198042GWAS847018_Hbody height QTL GWAS847018 (human)8e-12body height (VT:0001253)body height (CMO:0000106)129553398695533987Human

Markers in Region
STS-N33173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,909,346 - 95,909,559UniSTSGRCh37
GRCh371168,647,200 - 168,647,413UniSTSGRCh37
Build 361166,913,824 - 166,914,037RGDNCBI36
Celera1141,756,999 - 141,757,212RGD
Celera1295,580,467 - 95,580,680UniSTS
Cytogenetic Map12q22UniSTS
HuRef1292,977,720 - 92,977,933UniSTS
HuRef1139,893,306 - 139,893,519UniSTS
GeneMap99-GB4 RH Map12357.6UniSTS
RH93395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,910,382 - 95,910,538UniSTSGRCh37
Build 361294,434,513 - 94,434,669RGDNCBI36
Celera1295,581,504 - 95,581,660RGD
Cytogenetic Map12q22UniSTS
HuRef1292,978,758 - 92,978,914UniSTS
GeneMap99-GB4 RH Map12368.58UniSTS
RH39871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,909,426 - 95,909,559UniSTSGRCh37
GRCh371168,647,280 - 168,647,413UniSTSGRCh37
Build 361166,913,904 - 166,914,037RGDNCBI36
Celera1141,757,079 - 141,757,212RGD
Celera1295,580,547 - 95,580,680UniSTS
Cytogenetic Map12q22UniSTS
HuRef1292,977,800 - 92,977,933UniSTS
HuRef1139,893,386 - 139,893,519UniSTS
D12S1199E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,907,824 - 95,907,908UniSTSGRCh37
Build 361294,431,955 - 94,432,039RGDNCBI36
Celera1295,578,945 - 95,579,029RGD
Cytogenetic Map12q22UniSTS
HuRef1292,976,198 - 92,976,282UniSTS
SGC31600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,907,689 - 95,907,904UniSTSGRCh37
Build 361294,431,820 - 94,432,035RGDNCBI36
Celera1295,578,810 - 95,579,025RGD
Cytogenetic Map12q22UniSTS
HuRef1292,976,063 - 92,976,278UniSTS
TNG Radiation Hybrid Map1246596.0UniSTS
GeneMap99-GB4 RH Map12370.39UniSTS
Whitehead-RH Map12467.4UniSTS
WI-21736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,908,227 - 95,908,475UniSTSGRCh37
Build 361294,432,358 - 94,432,606RGDNCBI36
Celera1295,579,348 - 95,579,596RGD
Cytogenetic Map12q22UniSTS
HuRef1292,976,601 - 92,976,849UniSTS
GeneMap99-GB4 RH Map12372.13UniSTS
Whitehead-RH Map12468.7UniSTS
NCBI RH Map12609.0UniSTS
SHGC-64320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,909,346 - 95,909,447UniSTSGRCh37
GRCh371168,647,200 - 168,647,301UniSTSGRCh37
Build 361166,913,824 - 166,913,925RGDNCBI36
Celera1141,756,999 - 141,757,100RGD
Celera1295,580,467 - 95,580,568UniSTS
Cytogenetic Map12q22UniSTS
HuRef1292,977,720 - 92,977,821UniSTS
HuRef1139,893,306 - 139,893,407UniSTS
TNG Radiation Hybrid Map1246625.0UniSTS
D12S1183E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371295,907,887 - 95,908,048UniSTSGRCh37
Build 361294,432,018 - 94,432,179RGDNCBI36
Celera1295,579,008 - 95,579,169RGD
Cytogenetic Map12q22UniSTS
HuRef1292,976,261 - 92,976,422UniSTS
GeneMap99-GB4 RH Map12370.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1203 2343 2787 2242 4903 1637 2230 3 538 1678 378 2254 6791 6173 46 3678 790 1706 1581 167

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA101229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI458616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM023146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA092275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB096497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB443014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB454726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB456039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB462518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY021046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258499   ⟹   ENSP00000258499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,516,560 - 95,551,476 (-)Ensembl
Ensembl Acc Id: ENST00000393091   ⟹   ENSP00000376806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,517,276 - 95,548,844 (-)Ensembl
Ensembl Acc Id: ENST00000537435   ⟹   ENSP00000442629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,518,154 - 95,548,272 (-)Ensembl
Ensembl Acc Id: ENST00000547951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,546,450 - 95,548,669 (-)Ensembl
Ensembl Acc Id: ENST00000549639   ⟹   ENSP00000449635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,533,923 - 95,548,798 (-)Ensembl
Ensembl Acc Id: ENST00000551837   ⟹   ENSP00000448601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,533,764 - 95,548,819 (-)Ensembl
Ensembl Acc Id: ENST00000552237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,524,520 - 95,529,000 (-)Ensembl
Ensembl Acc Id: ENST00000552440   ⟹   ENSP00000448670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1295,518,143 - 95,534,326 (-)Ensembl
RefSeq Acc Id: NM_001042403   ⟹   NP_001035862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
GRCh371295,910,336 - 95,945,278 (-)NCBI
Build 361294,435,010 - 94,466,751 (-)NCBI Archive
Celera1295,582,001 - 95,617,069 (-)RGD
HuRef1292,978,712 - 93,013,655 (-)NCBI
CHM1_11295,875,781 - 95,908,031 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278393   ⟹   NP_001265322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,238 (-)NCBI
GRCh371295,910,336 - 95,945,278 (-)NCBI
HuRef1292,978,712 - 93,013,655 (-)NCBI
CHM1_11295,875,781 - 95,907,451 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,279 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347936   ⟹   NP_001334865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347937   ⟹   NP_001334866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032147   ⟹   NP_115523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,551,476 (-)NCBI
Build 361294,435,010 - 94,469,394 (-)NCBI Archive
Celera1295,582,001 - 95,617,069 (-)RGD
HuRef1292,978,712 - 93,013,655 (-)NCBI
CHM1_11295,875,781 - 95,910,677 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,532,525 (-)NCBI
Sequence:
RefSeq Acc Id: NR_125360
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
CHM1_11295,875,781 - 95,893,510 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144944
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144945
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144946
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144947
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144948
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269172   ⟹   XP_005269229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,551,476 (-)NCBI
GRCh371295,910,336 - 95,945,278 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269173   ⟹   XP_005269230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,238 (-)NCBI
GRCh371295,910,336 - 95,945,278 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269174   ⟹   XP_005269231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
GRCh371295,910,336 - 95,945,278 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538800   ⟹   XP_011537102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,551,476 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538801   ⟹   XP_011537103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538802   ⟹   XP_011537104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538803   ⟹   XP_011537105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,551,529 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538804   ⟹   XP_011537106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538805   ⟹   XP_011537107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,549,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538806   ⟹   XP_011537108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,529,731 - 95,551,476 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429642   ⟹   XP_047285598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,548,802 (-)NCBI
RefSeq Acc Id: XM_047429643   ⟹   XP_047285599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,551,476 (-)NCBI
RefSeq Acc Id: XM_047429644   ⟹   XP_047285600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,550,353 (-)NCBI
RefSeq Acc Id: XM_047429645   ⟹   XP_047285601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,516,560 - 95,551,681 (-)NCBI
RefSeq Acc Id: XM_047429646   ⟹   XP_047285602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,524,680 - 95,551,476 (-)NCBI
RefSeq Acc Id: XM_047429647   ⟹   XP_047285603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,524,680 - 95,548,802 (-)NCBI
RefSeq Acc Id: XM_054373406   ⟹   XP_054229381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,532,525 (-)NCBI
RefSeq Acc Id: XM_054373407   ⟹   XP_054229382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
RefSeq Acc Id: XM_054373408   ⟹   XP_054229383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
RefSeq Acc Id: XM_054373409   ⟹   XP_054229384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
RefSeq Acc Id: XM_054373410   ⟹   XP_054229385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,532,525 (-)NCBI
RefSeq Acc Id: XM_054373411   ⟹   XP_054229386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
RefSeq Acc Id: XM_054373412   ⟹   XP_054229387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,529,279 (-)NCBI
RefSeq Acc Id: XM_054373413   ⟹   XP_054229388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,532,578 (-)NCBI
RefSeq Acc Id: XM_054373414   ⟹   XP_054229389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,530,378 (-)NCBI
RefSeq Acc Id: XM_054373415   ⟹   XP_054229390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,529,851 (-)NCBI
RefSeq Acc Id: XM_054373416   ⟹   XP_054229391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,531,402 (-)NCBI
RefSeq Acc Id: XM_054373417   ⟹   XP_054229392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,532,730 (-)NCBI
RefSeq Acc Id: XM_054373418   ⟹   XP_054229393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,497,607 - 95,532,525 (-)NCBI
RefSeq Acc Id: XM_054373419   ⟹   XP_054229394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,510,772 - 95,532,525 (-)NCBI
RefSeq Acc Id: XM_054373420   ⟹   XP_054229395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,505,720 - 95,532,525 (-)NCBI
RefSeq Acc Id: XM_054373421   ⟹   XP_054229396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,505,720 - 95,529,851 (-)NCBI
RefSeq Acc Id: XR_008488692
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01295,502,162 - 95,532,525 (-)NCBI
RefSeq Acc Id: XR_944757
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,521,121 - 95,551,476 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035862 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265322 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334865 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334866 (Get FASTA)   NCBI Sequence Viewer  
  NP_115523 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269229 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269230 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269231 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537102 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537103 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537104 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537105 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537106 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537107 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537108 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285598 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285599 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285600 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285601 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285602 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285603 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229382 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229383 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229387 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229395 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229396 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH30704 (Get FASTA)   NCBI Sequence Viewer  
  BAG38060 (Get FASTA)   NCBI Sequence Viewer  
  CAB66759 (Get FASTA)   NCBI Sequence Viewer  
  EAW97540 (Get FASTA)   NCBI Sequence Viewer  
  EAW97541 (Get FASTA)   NCBI Sequence Viewer  
  EAW97542 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000258499
  ENSP00000258499.3
  ENSP00000376806
  ENSP00000376806.2
  ENSP00000442629
  ENSP00000442629.2
  ENSP00000448601.1
  ENSP00000448670
  ENSP00000448670.1
  ENSP00000449635.1
GenBank Protein Q9H0E7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_115523   ⟸   NM_032147
- UniProtKB: B2RDW3 (UniProtKB/Swiss-Prot),   Q9H0E7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035862   ⟸   NM_001042403
- UniProtKB: B2RDW3 (UniProtKB/Swiss-Prot),   Q9H0E7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265322   ⟸   NM_001278393
- UniProtKB: B2RDW3 (UniProtKB/Swiss-Prot),   Q9H0E7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005269229   ⟸   XM_005269172
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005269231   ⟸   XM_005269174
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005269230   ⟸   XM_005269173
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537105   ⟸   XM_011538803
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537102   ⟸   XM_011538800
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537107   ⟸   XM_011538805
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537103   ⟸   XM_011538801
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537106   ⟸   XM_011538804
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537104   ⟸   XM_011538802
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537108   ⟸   XM_011538806
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001334865   ⟸   NM_001347936
- UniProtKB: B2RDW3 (UniProtKB/Swiss-Prot),   Q9H0E7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001334866   ⟸   NM_001347937
- UniProtKB: B2RDW3 (UniProtKB/Swiss-Prot),   Q9H0E7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000258499   ⟸   ENST00000258499
Ensembl Acc Id: ENSP00000449635   ⟸   ENST00000549639
Ensembl Acc Id: ENSP00000442629   ⟸   ENST00000537435
Ensembl Acc Id: ENSP00000376806   ⟸   ENST00000393091
Ensembl Acc Id: ENSP00000448601   ⟸   ENST00000551837
Ensembl Acc Id: ENSP00000448670   ⟸   ENST00000552440
RefSeq Acc Id: XP_047285601   ⟸   XM_047429645
- Peptide Label: isoform X2
- UniProtKB: Q9H0E7 (UniProtKB/Swiss-Prot),   B2RDW3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285599   ⟸   XM_047429643
- Peptide Label: isoform X2
- UniProtKB: Q9H0E7 (UniProtKB/Swiss-Prot),   B2RDW3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285600   ⟸   XM_047429644
- Peptide Label: isoform X2
- UniProtKB: Q9H0E7 (UniProtKB/Swiss-Prot),   B2RDW3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285598   ⟸   XM_047429642
- Peptide Label: isoform X2
- UniProtKB: Q9H0E7 (UniProtKB/Swiss-Prot),   B2RDW3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285602   ⟸   XM_047429646
- Peptide Label: isoform X4
- UniProtKB: F8VRI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285603   ⟸   XM_047429647
- Peptide Label: isoform X4
- UniProtKB: F8VRI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229392   ⟸   XM_054373417
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229388   ⟸   XM_054373413
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229381   ⟸   XM_054373406
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229393   ⟸   XM_054373418
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229385   ⟸   XM_054373410
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229391   ⟸   XM_054373416
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229389   ⟸   XM_054373414
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229383   ⟸   XM_054373408
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229390   ⟸   XM_054373415
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229384   ⟸   XM_054373409
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229386   ⟸   XM_054373411
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229382   ⟸   XM_054373407
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229387   ⟸   XM_054373412
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229395   ⟸   XM_054373420
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229396   ⟸   XM_054373421
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229394   ⟸   XM_054373419
- Peptide Label: isoform X3
Protein Domains
UBP-type   USP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0E7-F1-model_v2 AlphaFold Q9H0E7 1-712 view protein structure

Promoters
RGD ID:6790652
Promoter ID:HG_KWN:16362
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   Lymphoblastoid
Transcripts:UC009ZTE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361294,466,269 - 94,466,769 (-)MPROMDB
RGD ID:6790649
Promoter ID:HG_KWN:16363
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001042403
Position:
Human AssemblyChrPosition (strand)Source
Build 361294,466,436 - 94,466,936 (-)MPROMDB
RGD ID:6790650
Promoter ID:HG_KWN:16364
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:NM_032147
Position:
Human AssemblyChrPosition (strand)Source
Build 361294,470,061 - 94,470,561 (-)MPROMDB
RGD ID:7225057
Promoter ID:EPDNEW_H18275
Type:initiation region
Name:USP44_3
Description:ubiquitin specific peptidase 44
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18277  EPDNEW_H18276  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,548,238 - 95,548,298EPDNEW
RGD ID:7225063
Promoter ID:EPDNEW_H18276
Type:initiation region
Name:USP44_1
Description:ubiquitin specific peptidase 44
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18275  EPDNEW_H18277  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,548,798 - 95,548,858EPDNEW
RGD ID:7225061
Promoter ID:EPDNEW_H18277
Type:initiation region
Name:USP44_2
Description:ubiquitin specific peptidase 44
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18275  EPDNEW_H18276  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381295,551,378 - 95,551,438EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20064 AgrOrtholog
COSMIC USP44 COSMIC
Ensembl Genes ENSG00000136014 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258499 ENTREZGENE
  ENST00000258499.8 UniProtKB/Swiss-Prot
  ENST00000393091 ENTREZGENE
  ENST00000393091.6 UniProtKB/Swiss-Prot
  ENST00000537435 ENTREZGENE
  ENST00000537435.2 UniProtKB/Swiss-Prot
  ENST00000549639.1 UniProtKB/TrEMBL
  ENST00000551837.1 UniProtKB/TrEMBL
  ENST00000552440 ENTREZGENE
  ENST00000552440.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cysteine proteinases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136014 GTEx
HGNC ID HGNC:20064 ENTREZGENE
Human Proteome Map USP44 Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C19_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ub_carboxyl-term_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84101 UniProtKB/Swiss-Prot
NCBI Gene 84101 ENTREZGENE
OMIM 610993 OMIM
PANTHER BRCA1-ASSOCIATED PROTEIN UniProtKB/TrEMBL
  BRCA1-ASSOCIATED PROTEIN UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE 44 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931457 PharmGKB
PROSITE USP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_2 UniProtKB/Swiss-Prot
  USP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_UBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDW3 ENTREZGENE
  F8VRI7 ENTREZGENE, UniProtKB/TrEMBL
  F8VRW0_HUMAN UniProtKB/TrEMBL
  F8VVD6_HUMAN UniProtKB/TrEMBL
  Q9H0E7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RDW3 UniProtKB/Swiss-Prot