UNC45B (unc-45 myosin chaperone B) - Rat Genome Database

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Gene: UNC45B (unc-45 myosin chaperone B) Homo sapiens
Analyze
Symbol: UNC45B
Name: unc-45 myosin chaperone B
RGD ID: 1313830
HGNC Page HGNC:14304
Description: Predicted to enable Hsp90 protein binding activity. Predicted to be involved in chaperone-mediated protein folding and lens development in camera-type eye. Predicted to be located in cytosol; perinuclear region of cytoplasm; and sarcomere. Predicted to be active in cytoplasm. Implicated in cataract 43 and myofibrillar myopathy 11.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiomyopathy associated 4; CMYA4; CTRCT43; FLJ38610; MFM11; MGC119540; MGC119541; SMUNC45; striated muscle UNC45; unc-45 homolog B; UNC-45B; UNC45
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381735,147,817 - 35,189,345 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1735,147,817 - 35,189,345 (+)EnsemblGRCh38hg38GRCh38
GRCh371733,474,836 - 33,516,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,498,949 - 30,540,477 (+)NCBINCBI36Build 36hg18NCBI36
Build 341730,499,395 - 30,537,691NCBI
Celera1730,385,024 - 30,426,539 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1729,659,471 - 29,700,988 (+)NCBIHuRef
CHM1_11733,539,195 - 33,580,717 (+)NCBICHM1_1
T2T-CHM13v2.01736,095,726 - 36,137,280 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12356907   PMID:12477932   PMID:14702039   PMID:15489334   PMID:20379614   PMID:21873635   PMID:22751105   PMID:23408646   PMID:24549050   PMID:25036637   PMID:25436418   PMID:25487020  
PMID:29449217   PMID:33217308   PMID:33961781   PMID:34057440   PMID:35156780   PMID:37295424  


Genomics

Comparative Map Data
UNC45B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381735,147,817 - 35,189,345 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1735,147,817 - 35,189,345 (+)EnsemblGRCh38hg38GRCh38
GRCh371733,474,836 - 33,516,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,498,949 - 30,540,477 (+)NCBINCBI36Build 36hg18NCBI36
Build 341730,499,395 - 30,537,691NCBI
Celera1730,385,024 - 30,426,539 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1729,659,471 - 29,700,988 (+)NCBIHuRef
CHM1_11733,539,195 - 33,580,717 (+)NCBICHM1_1
T2T-CHM13v2.01736,095,726 - 36,137,280 (+)NCBIT2T-CHM13v2.0
Unc45b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391182,802,112 - 82,834,284 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1182,801,376 - 82,834,229 (+)EnsemblGRCm39 Ensembl
GRCm381182,911,253 - 82,943,406 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1182,910,550 - 82,943,403 (+)EnsemblGRCm38mm10GRCm38
MGSCv371182,724,755 - 82,756,908 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,727,524 - 82,759,601 (+)NCBIMGSCv36mm8
Celera1192,535,272 - 92,566,088 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1150.3NCBI
Unc45b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81068,343,011 - 68,370,683 (+)NCBIGRCr8
mRatBN7.21067,845,464 - 67,873,143 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1067,845,462 - 67,873,389 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1072,465,507 - 72,493,429 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01071,970,884 - 71,998,806 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01067,434,975 - 67,462,832 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01070,262,340 - 70,290,445 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1070,262,361 - 70,290,445 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01069,893,499 - 69,920,936 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41071,128,525 - 71,156,471 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11071,142,158 - 71,170,095 (+)NCBI
Celera1066,789,697 - 66,817,760 (+)NCBICelera
Cytogenetic Map10q26NCBI
Unc45b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554819,833,905 - 9,860,697 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554819,833,918 - 9,860,202 (+)NCBIChiLan1.0ChiLan1.0
UNC45B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21929,276,717 - 29,318,181 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11731,157,541 - 31,199,152 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01721,596,445 - 21,638,487 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11721,888,426 - 21,930,357 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1721,888,426 - 21,930,357 (-)Ensemblpanpan1.1panPan2
UNC45B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1938,189,917 - 38,218,337 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl938,189,917 - 38,218,025 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha937,413,649 - 37,442,109 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0939,001,372 - 39,030,073 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl938,998,793 - 39,029,898 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1937,785,169 - 37,813,631 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0938,070,500 - 38,099,164 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0938,157,973 - 38,186,674 (-)NCBIUU_Cfam_GSD_1.0
Unc45b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560237,195,294 - 37,218,884 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493653873,176 - 96,712 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493653873,180 - 96,677 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UNC45B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1239,994,194 - 40,030,966 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11239,997,254 - 40,031,368 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21241,508,324 - 41,542,493 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UNC45B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11628,649,541 - 28,690,467 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660751,292,605 - 1,334,228 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Unc45b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248753,009,763 - 3,037,282 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248753,009,763 - 3,037,204 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UNC45B
216 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001267052.2(UNC45B):c.1689+227T>A single nucleotide variant not provided [RCV001571726] Chr17:35170482 [GRCh38]
Chr17:33497501 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2255+5G>C single nucleotide variant Myofibrillar myopathy 11 [RCV001291533] Chr17:35177615 [GRCh38]
Chr17:33504634 [GRCh37]
Chr17:17q12		 pathogenic
NM_001033576.1(UNC45B):c.2698G>A (p.Glu900Lys) single nucleotide variant Malignant melanoma [RCV000071405] Chr17:35186467 [GRCh38]
Chr17:33513486 [GRCh37]
Chr17:30537599 [NCBI36]
Chr17:17q12		 not provided
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp) single nucleotide variant Myofibrillar myopathy 11 [RCV001291532] Chr17:35180629 [GRCh38]
Chr17:33507648 [GRCh37]
Chr17:17q12		 pathogenic
NM_001267052.2(UNC45B):c.1540T>C (p.Cys514Arg) single nucleotide variant Myofibrillar myopathy 11 [RCV001291534] Chr17:35169924 [GRCh38]
Chr17:33496943 [GRCh37]
Chr17:17q12		 pathogenic
NM_001267052.2(UNC45B):c.168+194C>T single nucleotide variant not provided [RCV001545615] Chr17:35148625 [GRCh38]
Chr17:33475644 [GRCh37]
Chr17:17q12		 likely benign
GRCh38/hg38 17q12(chr17:35129859-35767049)x3 copy number gain See cases [RCV000136983] Chr17:35129859..35767049 [GRCh38]
Chr17:33456878..34094068 [GRCh37]
Chr17:30480991..31118181 [NCBI36]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp) single nucleotide variant Cataract 43 [RCV000167576] Chr17:35183460 [GRCh38]
Chr17:33510479 [GRCh37]
Chr17:17q12		 pathogenic|not provided
NM_001267052.2(UNC45B):c.1452+304T>G single nucleotide variant not provided [RCV001565825] Chr17:35168665 [GRCh38]
Chr17:33495684 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17q12(chr17:33515101-33520981)x3 copy number gain See cases [RCV000445782] Chr17:33515101..33520981 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:33498726-33863479)x1 copy number loss See cases [RCV000510830] Chr17:33498726..33863479 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1993C>G (p.Arg665Gly) single nucleotide variant Inborn genetic diseases [RCV003291875] Chr17:35176002 [GRCh38]
Chr17:33503021 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2333C>T (p.Ala778Val) single nucleotide variant Inborn genetic diseases [RCV000624281]|not provided [RCV002532823] Chr17:35180636 [GRCh38]
Chr17:33507655 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:32351496-34455576)x1 copy number loss not provided [RCV000683918] Chr17:32351496..34455576 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.472-43G>A single nucleotide variant not provided [RCV001566550] Chr17:35154531 [GRCh38]
Chr17:33481550 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001267052.2(UNC45B):c.1-133G>A single nucleotide variant not provided [RCV001582026] Chr17:35148131 [GRCh38]
Chr17:33475150 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001267052.2(UNC45B):c.1830+315C>G single nucleotide variant not provided [RCV001693322] Chr17:35171777 [GRCh38]
Chr17:33498796 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2373+233G>A single nucleotide variant not provided [RCV001666981] Chr17:35180909 [GRCh38]
Chr17:33507928 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1959-253A>G single nucleotide variant not provided [RCV001612327] Chr17:35175715 [GRCh38]
Chr17:33502734 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.809-203G>A single nucleotide variant not provided [RCV001680498] Chr17:35159172 [GRCh38]
Chr17:33486191 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2255+236del deletion not provided [RCV001611970] Chr17:35177843 [GRCh38]
Chr17:33504862 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.640-141G>C single nucleotide variant not provided [RCV001586390] Chr17:35155155 [GRCh38]
Chr17:33482174 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1830+161A>C single nucleotide variant not provided [RCV001679662] Chr17:35171623 [GRCh38]
Chr17:33498642 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.977A>G (p.Asn326Ser) single nucleotide variant UNC45B-related condition [RCV003956259]|not provided [RCV001569125] Chr17:35159543 [GRCh38]
Chr17:33486562 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1151+286G>A single nucleotide variant not provided [RCV001551427] Chr17:35164452 [GRCh38]
Chr17:33491471 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2256-305GA[20] microsatellite not provided [RCV001608731] Chr17:35180253..35180254 [GRCh38]
Chr17:33507272..33507273 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.640-252G>A single nucleotide variant not provided [RCV001552303] Chr17:35155044 [GRCh38]
Chr17:33482063 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1974G>A (p.Leu658=) single nucleotide variant not provided [RCV001583552] Chr17:35175983 [GRCh38]
Chr17:33503002 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.596C>T (p.Ala199Val) single nucleotide variant not provided [RCV000969315] Chr17:35154698 [GRCh38]
Chr17:33481717 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1665G>T (p.Leu555=) single nucleotide variant not provided [RCV000959381] Chr17:35170231 [GRCh38]
Chr17:33497250 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.318C>T (p.Leu106=) single nucleotide variant UNC45B-related condition [RCV003913138]|not provided [RCV000927754] Chr17:35150160 [GRCh38]
Chr17:33477179 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2641G>A (p.Ala881Thr) single nucleotide variant UNC45B-related condition [RCV003950648]|not provided [RCV000905443] Chr17:35186410 [GRCh38]
Chr17:33513429 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) single nucleotide variant Myofibrillar myopathy 11 [RCV001291530]|Myopathy [RCV001034707]|UNC45B-related condition [RCV003396625] Chr17:35177610 [GRCh38]
Chr17:33504629 [GRCh37]
Chr17:17q12		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787392] Chr17:31889285..33557612 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1467C>T (p.Leu489=) single nucleotide variant not provided [RCV000902610] Chr17:35169851 [GRCh38]
Chr17:33496870 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_001267052.2(UNC45B):c.2514C>T (p.Leu838=) single nucleotide variant UNC45B-related condition [RCV003940380]|not provided [RCV000879573] Chr17:35183567 [GRCh38]
Chr17:33510586 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2397C>T (p.Asp799=) single nucleotide variant not provided [RCV000977309] Chr17:35183450 [GRCh38]
Chr17:33510469 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.144C>T (p.Asn48=) single nucleotide variant not provided [RCV000965378] Chr17:35148407 [GRCh38]
Chr17:33475426 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1830+8C>A single nucleotide variant not provided [RCV000880317] Chr17:35171470 [GRCh38]
Chr17:33498489 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.381G>A (p.Lys127=) single nucleotide variant not provided [RCV000836742] Chr17:35150223 [GRCh38]
Chr17:33477242 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1130A>G (p.Lys377Arg) single nucleotide variant not provided [RCV000842476] Chr17:35164145 [GRCh38]
Chr17:33491164 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_001267052.2(UNC45B):c.2549T>A (p.Ile850Asn) single nucleotide variant not provided [RCV000836834] Chr17:35186318 [GRCh38]
Chr17:33513337 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_001267052.2(UNC45B):c.1413G>A (p.Lys471=) single nucleotide variant not provided [RCV000826995] Chr17:35168322 [GRCh38]
Chr17:33495341 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.382-45G>A single nucleotide variant not provided [RCV001544554] Chr17:35152848 [GRCh38]
Chr17:33479867 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17q12(chr17:33073917-33863479)x1 copy number loss not provided [RCV001006894] Chr17:33073917..33863479 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2373+29G>A single nucleotide variant not provided [RCV001554881] Chr17:35180705 [GRCh38]
Chr17:33507724 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1689+57A>G single nucleotide variant not provided [RCV001695292] Chr17:35170312 [GRCh38]
Chr17:33497331 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2140-49C>T single nucleotide variant not provided [RCV001708638] Chr17:35177446 [GRCh38]
Chr17:33504465 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.980-305G>A single nucleotide variant not provided [RCV001562440] Chr17:35163690 [GRCh38]
Chr17:33490709 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.640-70C>T single nucleotide variant not provided [RCV001656034] Chr17:35155226 [GRCh38]
Chr17:33482245 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2373+82G>A single nucleotide variant not provided [RCV001557577] Chr17:35180758 [GRCh38]
Chr17:33507777 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2025+288C>T single nucleotide variant not provided [RCV001616749] Chr17:35176322 [GRCh38]
Chr17:33503341 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.980-23G>A single nucleotide variant not provided [RCV001676461] Chr17:35163972 [GRCh38]
Chr17:33490991 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.640-223G>A single nucleotide variant not provided [RCV001570563] Chr17:35155073 [GRCh38]
Chr17:33482092 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1958+44C>T single nucleotide variant not provided [RCV001684153] Chr17:35174413 [GRCh38]
Chr17:33501432 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1959-109C>T single nucleotide variant not provided [RCV001614664] Chr17:35175859 [GRCh38]
Chr17:33502878 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.30G>A (p.Lys10=) single nucleotide variant not provided [RCV000889141] Chr17:35148293 [GRCh38]
Chr17:33475312 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1035G>A (p.Leu345=) single nucleotide variant not provided [RCV000888205] Chr17:35164050 [GRCh38]
Chr17:33491069 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2187G>A (p.Arg729=) single nucleotide variant not provided [RCV000916649] Chr17:35177542 [GRCh38]
Chr17:33504561 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2463G>A (p.Ala821=) single nucleotide variant not provided [RCV000923592] Chr17:35183516 [GRCh38]
Chr17:33510535 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2189A>C (p.Asp730Ala) single nucleotide variant not provided [RCV000962492] Chr17:35177544 [GRCh38]
Chr17:33504563 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_001267052.2(UNC45B):c.1099C>T (p.Arg367Cys) single nucleotide variant not provided [RCV000957584] Chr17:35164114 [GRCh38]
Chr17:33491133 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_001267052.2(UNC45B):c.1167C>G (p.Pro389=) single nucleotide variant not provided [RCV000935296] Chr17:35168076 [GRCh38]
Chr17:33495095 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2433C>T (p.Cys811=) single nucleotide variant not provided [RCV000913120] Chr17:35183486 [GRCh38]
Chr17:33510505 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2026-7C>T single nucleotide variant not provided [RCV000911325] Chr17:35177010 [GRCh38]
Chr17:33504029 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.809-86A>G single nucleotide variant not provided [RCV001561655] Chr17:35159289 [GRCh38]
Chr17:33486308 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.168+161G>A single nucleotide variant not provided [RCV001562147] Chr17:35148592 [GRCh38]
Chr17:33475611 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.471+83C>T single nucleotide variant not provided [RCV001564806] Chr17:35153065 [GRCh38]
Chr17:33480084 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.*13A>C single nucleotide variant not provided [RCV001621002] Chr17:35186572 [GRCh38]
Chr17:33513591 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1958+45G>A single nucleotide variant not provided [RCV001557327] Chr17:35174414 [GRCh38]
Chr17:33501433 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.472-306A>T single nucleotide variant not provided [RCV001637616] Chr17:35154268 [GRCh38]
Chr17:33481287 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.206-157A>G single nucleotide variant not provided [RCV001558789] Chr17:35149891 [GRCh38]
Chr17:33476910 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.382-137G>A single nucleotide variant not provided [RCV001558940] Chr17:35152756 [GRCh38]
Chr17:33479775 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.-1+107G>C single nucleotide variant not provided [RCV001552971] Chr17:35148017 [GRCh38]
Chr17:33475036 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.381+241T>C single nucleotide variant not provided [RCV001559601] Chr17:35150464 [GRCh38]
Chr17:33477483 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.980-184G>A single nucleotide variant not provided [RCV001594006] Chr17:35163811 [GRCh38]
Chr17:33490830 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2530-137A>G single nucleotide variant not provided [RCV001553450] Chr17:35186162 [GRCh38]
Chr17:33513181 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1140G>A (p.Glu380=) single nucleotide variant not provided [RCV001656295] Chr17:35164155 [GRCh38]
Chr17:33491174 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2026-114G>A single nucleotide variant not provided [RCV001540841] Chr17:35176903 [GRCh38]
Chr17:33503922 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.808+39G>A single nucleotide variant Cataract 43 [RCV002243312]|Myofibrillar myopathy 11 [RCV002243313]|not provided [RCV001595226] Chr17:35155503 [GRCh38]
Chr17:33482522 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2255+180C>T single nucleotide variant not provided [RCV001688991] Chr17:35177790 [GRCh38]
Chr17:33504809 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.178G>A (p.Val60Ile) single nucleotide variant not provided [RCV001654825] Chr17:35148982 [GRCh38]
Chr17:33476001 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1831-270T>C single nucleotide variant not provided [RCV001687968] Chr17:35173972 [GRCh38]
Chr17:33500991 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2255+87T>C single nucleotide variant not provided [RCV001639327] Chr17:35177697 [GRCh38]
Chr17:33504716 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1151+267A>G single nucleotide variant not provided [RCV001686316] Chr17:35164433 [GRCh38]
Chr17:33491452 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2256-305GA[23] microsatellite not provided [RCV001657368] Chr17:35180253..35180254 [GRCh38]
Chr17:33507272..33507273 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1959-50G>A single nucleotide variant not provided [RCV001650022] Chr17:35175918 [GRCh38]
Chr17:33502937 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2139+45T>C single nucleotide variant not provided [RCV001656558] Chr17:35177175 [GRCh38]
Chr17:33504194 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.980-251G>A single nucleotide variant not provided [RCV001594581] Chr17:35163744 [GRCh38]
Chr17:33490763 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.980-180G>C single nucleotide variant not provided [RCV001684126] Chr17:35163815 [GRCh38]
Chr17:33490834 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2256-305GA[21] microsatellite not provided [RCV001648789] Chr17:35180253..35180254 [GRCh38]
Chr17:33507272..33507273 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2025+66T>C single nucleotide variant not provided [RCV001644228] Chr17:35176100 [GRCh38]
Chr17:33503119 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2256-305GA[14] microsatellite not provided [RCV001709463] Chr17:35180254..35180261 [GRCh38]
Chr17:33507273..33507280 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2374-211G>A single nucleotide variant not provided [RCV001685954] Chr17:35183216 [GRCh38]
Chr17:33510235 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.*71A>G single nucleotide variant not provided [RCV001669074] Chr17:35186630 [GRCh38]
Chr17:33513649 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1831-273G>A single nucleotide variant not provided [RCV001695596] Chr17:35173969 [GRCh38]
Chr17:33500988 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2374-123G>C single nucleotide variant not provided [RCV001649317] Chr17:35183304 [GRCh38]
Chr17:33510323 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1788C>T (p.Leu596=) single nucleotide variant not provided [RCV001669578] Chr17:35171420 [GRCh38]
Chr17:33498439 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.980-297T>C single nucleotide variant not provided [RCV001566003] Chr17:35163698 [GRCh38]
Chr17:33490717 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2529+55A>G single nucleotide variant not provided [RCV001645323] Chr17:35183637 [GRCh38]
Chr17:33510656 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1958+256G>C single nucleotide variant not provided [RCV001614677] Chr17:35174625 [GRCh38]
Chr17:33501644 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1151+158A>G single nucleotide variant not provided [RCV001709256] Chr17:35164324 [GRCh38]
Chr17:33491343 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1958+187A>C single nucleotide variant not provided [RCV001589851] Chr17:35174556 [GRCh38]
Chr17:33501575 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2530-295A>T single nucleotide variant not provided [RCV001611845] Chr17:35186004 [GRCh38]
Chr17:33513023 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1548-83C>T single nucleotide variant not provided [RCV001668968] Chr17:35170031 [GRCh38]
Chr17:33497050 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2529+227G>A single nucleotide variant not provided [RCV001574603] Chr17:35183809 [GRCh38]
Chr17:33510828 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1547+22G>C single nucleotide variant not provided [RCV001568087] Chr17:35169953 [GRCh38]
Chr17:33496972 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1207T>C (p.Ser403Pro) single nucleotide variant Myofibrillar myopathy 11 [RCV001291531] Chr17:35168116 [GRCh38]
Chr17:33495135 [GRCh37]
Chr17:17q12		 pathogenic
NM_001267052.2(UNC45B):c.2209G>T (p.Ala737Ser) single nucleotide variant Cataract 43 [RCV001333622] Chr17:35177564 [GRCh38]
Chr17:33504583 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1689+197G>T single nucleotide variant not provided [RCV001528009] Chr17:35170452 [GRCh38]
Chr17:33497471 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1453-99G>A single nucleotide variant not provided [RCV001670666] Chr17:35169738 [GRCh38]
Chr17:33496757 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2301C>T (p.Tyr767=) single nucleotide variant not provided [RCV001669797] Chr17:35180604 [GRCh38]
Chr17:33507623 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.808+261A>G single nucleotide variant not provided [RCV001688563] Chr17:35155725 [GRCh38]
Chr17:33482744 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2374-42T>C single nucleotide variant not provided [RCV001592745] Chr17:35183385 [GRCh38]
Chr17:33510404 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1831-229G>T single nucleotide variant not provided [RCV001592116] Chr17:35174013 [GRCh38]
Chr17:33501032 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2256-305GA[19] microsatellite not provided [RCV001670130] Chr17:35180253..35180254 [GRCh38]
Chr17:33507272..33507273 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1831-282C>T single nucleotide variant not provided [RCV001648133] Chr17:35173960 [GRCh38]
Chr17:33500979 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2351G>A (p.Cys784Tyr) single nucleotide variant not provided [RCV001619192] Chr17:35180654 [GRCh38]
Chr17:33507673 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2530-325G>A single nucleotide variant not provided [RCV001538879] Chr17:35185974 [GRCh38]
Chr17:33512993 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe) single nucleotide variant Dilated cardiomyopathy 1A [RCV002277719] Chr17:35169840 [GRCh38]
Chr17:33496859 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_001267052.2(UNC45B):c.1690-81C>T single nucleotide variant not provided [RCV001777004] Chr17:35171241 [GRCh38]
Chr17:33498260 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.808+4G>C single nucleotide variant UNC45B-related condition [RCV003976145]|not provided [RCV002073993]|not specified [RCV001733772] Chr17:35155468 [GRCh38]
Chr17:33482487 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1544G>T (p.Arg515Leu) single nucleotide variant not provided [RCV001895779] Chr17:35169928 [GRCh38]
Chr17:33496947 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1151+4A>G single nucleotide variant not provided [RCV001892573] Chr17:35164170 [GRCh38]
Chr17:33491189 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1719G>A (p.Val573=) single nucleotide variant not provided [RCV002040353] Chr17:35171351 [GRCh38]
Chr17:33498370 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1830+12C>T single nucleotide variant not provided [RCV002040818] Chr17:35171474 [GRCh38]
Chr17:33498493 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.298G>A (p.Val100Met) single nucleotide variant Inborn genetic diseases [RCV002545487]|not provided [RCV002006958] Chr17:35150140 [GRCh38]
Chr17:33477159 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2254C>T (p.Arg752Trp) single nucleotide variant Inborn genetic diseases [RCV003303372]|not provided [RCV001916432] Chr17:35177609 [GRCh38]
Chr17:33504628 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2706T>A (p.Asp902Glu) single nucleotide variant not provided [RCV001957596] Chr17:35186475 [GRCh38]
Chr17:33513494 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1324G>A (p.Val442Met) single nucleotide variant not provided [RCV001954652] Chr17:35168233 [GRCh38]
Chr17:33495252 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.381+17C>T single nucleotide variant not provided [RCV002090889] Chr17:35150240 [GRCh38]
Chr17:33477259 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1689+26C>T single nucleotide variant not provided [RCV002134570] Chr17:35170281 [GRCh38]
Chr17:33497300 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.471+16_471+29del deletion not provided [RCV002095337] Chr17:35152993..35153006 [GRCh38]
Chr17:33480012..33480025 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2138G>A (p.Arg713Gln) single nucleotide variant UNC45B-related condition [RCV003923664]|not provided [RCV002124794] Chr17:35177129 [GRCh38]
Chr17:33504148 [GRCh37]
Chr17:17q12		 benign|likely benign
NC_000017.10:g.(?_33475283)_(34079869_?)dup duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003110947] Chr17:33475283..34079869 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1816G>A (p.Glu606Lys) single nucleotide variant not provided [RCV003114703] Chr17:35171448 [GRCh38]
Chr17:33498467 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1208C>T (p.Ser403Leu) single nucleotide variant not provided [RCV003116132] Chr17:35168117 [GRCh38]
Chr17:33495136 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.472-206A>C single nucleotide variant not provided [RCV002247190] Chr17:35154368 [GRCh38]
Chr17:33481387 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1959-80G>A single nucleotide variant not provided [RCV002286154] Chr17:35175888 [GRCh38]
Chr17:33502907 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.640-84A>G single nucleotide variant not provided [RCV002285841] Chr17:35155212 [GRCh38]
Chr17:33482231 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2256-182T>C single nucleotide variant not provided [RCV002285845] Chr17:35180377 [GRCh38]
Chr17:33507396 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2256-163C>T single nucleotide variant not provided [RCV002285850] Chr17:35180396 [GRCh38]
Chr17:33507415 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1453-173_1453-172del deletion not provided [RCV002285866] Chr17:35169663..35169664 [GRCh38]
Chr17:33496682..33496683 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1660G>T (p.Ala554Ser) single nucleotide variant Inborn genetic diseases [RCV003280341] Chr17:35170226 [GRCh38]
Chr17:33497245 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.73G>A (p.Ala25Thr) single nucleotide variant Myofibrillar myopathy 11 [RCV003148075] Chr17:35148336 [GRCh38]
Chr17:33475355 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.85T>G (p.Tyr29Asp) single nucleotide variant Inborn genetic diseases [RCV002990709] Chr17:35148348 [GRCh38]
Chr17:33475367 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1451T>C (p.Val484Ala) single nucleotide variant Inborn genetic diseases [RCV002991062] Chr17:35168360 [GRCh38]
Chr17:33495379 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1543C>G (p.Arg515Gly) single nucleotide variant Inborn genetic diseases [RCV002817772] Chr17:35169927 [GRCh38]
Chr17:33496946 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1219C>G (p.Gln407Glu) single nucleotide variant Inborn genetic diseases [RCV002682738]|UNC45B-related condition [RCV003963726] Chr17:35168128 [GRCh38]
Chr17:33495147 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_001267052.2(UNC45B):c.1122C>G (p.His374Gln) single nucleotide variant not provided [RCV002975406] Chr17:35164137 [GRCh38]
Chr17:33491156 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1699A>G (p.Lys567Glu) single nucleotide variant Inborn genetic diseases [RCV002754447] Chr17:35171331 [GRCh38]
Chr17:33498350 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.550C>T (p.Leu184=) single nucleotide variant not provided [RCV002881386] Chr17:35154652 [GRCh38]
Chr17:33481671 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2593C>T (p.Arg865Trp) single nucleotide variant not provided [RCV002994815] Chr17:35186362 [GRCh38]
Chr17:33513381 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2137C>G (p.Arg713Gly) single nucleotide variant Inborn genetic diseases [RCV002945656] Chr17:35177128 [GRCh38]
Chr17:33504147 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.167C>T (p.Thr56Met) single nucleotide variant Inborn genetic diseases [RCV002989799] Chr17:35148430 [GRCh38]
Chr17:33475449 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2256-8T>C single nucleotide variant not provided [RCV003075491] Chr17:35180551 [GRCh38]
Chr17:33507570 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2462C>G (p.Ala821Gly) single nucleotide variant Inborn genetic diseases [RCV002818594] Chr17:35183515 [GRCh38]
Chr17:33510534 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.145C>T (p.Arg49Trp) single nucleotide variant Inborn genetic diseases [RCV002905096] Chr17:35148408 [GRCh38]
Chr17:33475427 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1865G>A (p.Arg622Gln) single nucleotide variant Inborn genetic diseases [RCV002640356]|not provided [RCV002640355] Chr17:35174276 [GRCh38]
Chr17:33501295 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1928T>A (p.Leu643His) single nucleotide variant Inborn genetic diseases [RCV002761809] Chr17:35174339 [GRCh38]
Chr17:33501358 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.440A>G (p.Asp147Gly) single nucleotide variant Inborn genetic diseases [RCV002846004] Chr17:35152951 [GRCh38]
Chr17:33479970 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1301G>A (p.Arg434His) single nucleotide variant Inborn genetic diseases [RCV002694447] Chr17:35168210 [GRCh38]
Chr17:33495229 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1885A>G (p.Ile629Val) single nucleotide variant Inborn genetic diseases [RCV002822465] Chr17:35174296 [GRCh38]
Chr17:33501315 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2447A>G (p.Asp816Gly) single nucleotide variant Inborn genetic diseases [RCV002799322] Chr17:35183500 [GRCh38]
Chr17:33510519 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.500G>T (p.Arg167Leu) single nucleotide variant Inborn genetic diseases [RCV002888410] Chr17:35154602 [GRCh38]
Chr17:33481621 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.499C>T (p.Arg167Cys) single nucleotide variant Inborn genetic diseases [RCV002712415] Chr17:35154601 [GRCh38]
Chr17:33481620 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1877C>G (p.Ala626Gly) single nucleotide variant not provided [RCV003007163] Chr17:35174288 [GRCh38]
Chr17:33501307 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.97C>T (p.Leu33=) single nucleotide variant not provided [RCV002958673] Chr17:35148360 [GRCh38]
Chr17:33475379 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.690G>A (p.Met230Ile) single nucleotide variant Inborn genetic diseases [RCV002712988] Chr17:35155346 [GRCh38]
Chr17:33482365 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2491G>A (p.Ala831Thr) single nucleotide variant Inborn genetic diseases [RCV002984498] Chr17:35183544 [GRCh38]
Chr17:33510563 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.809-20C>T single nucleotide variant not provided [RCV002786791] Chr17:35159355 [GRCh38]
Chr17:33486374 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.2051G>A (p.Gly684Asp) single nucleotide variant Inborn genetic diseases [RCV002919491] Chr17:35177042 [GRCh38]
Chr17:33504061 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2171T>C (p.Leu724Pro) single nucleotide variant Inborn genetic diseases [RCV002764839] Chr17:35177526 [GRCh38]
Chr17:33504545 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1867C>T (p.Leu623Phe) single nucleotide variant Inborn genetic diseases [RCV002787281] Chr17:35174278 [GRCh38]
Chr17:33501297 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1117G>A (p.Asp373Asn) single nucleotide variant Inborn genetic diseases [RCV002955960] Chr17:35164132 [GRCh38]
Chr17:33491151 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.537T>A (p.Asn179Lys) single nucleotide variant Inborn genetic diseases [RCV002891531] Chr17:35154639 [GRCh38]
Chr17:33481658 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1958+16G>T single nucleotide variant not provided [RCV002575980] Chr17:35174385 [GRCh38]
Chr17:33501404 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2374G>C (p.Val792Leu) single nucleotide variant Inborn genetic diseases [RCV002709472] Chr17:35183427 [GRCh38]
Chr17:33510446 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2596G>A (p.Gly866Ser) single nucleotide variant Inborn genetic diseases [RCV002744526] Chr17:35186365 [GRCh38]
Chr17:33513384 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2434G>A (p.Gly812Arg) single nucleotide variant Inborn genetic diseases [RCV002803326] Chr17:35183487 [GRCh38]
Chr17:33510506 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.149C>A (p.Ala50Glu) single nucleotide variant not provided [RCV002766165] Chr17:35148412 [GRCh38]
Chr17:33475431 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2156G>A (p.Arg719Gln) single nucleotide variant UNC45B-related condition [RCV003916597]|not provided [RCV002900194] Chr17:35177511 [GRCh38]
Chr17:33504530 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.1616C>T (p.Thr539Met) single nucleotide variant Inborn genetic diseases [RCV002769666] Chr17:35170182 [GRCh38]
Chr17:33497201 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2116G>T (p.Asp706Tyr) single nucleotide variant Inborn genetic diseases [RCV002673148] Chr17:35177107 [GRCh38]
Chr17:33504126 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1300C>T (p.Arg434Cys) single nucleotide variant not provided [RCV002720811] Chr17:35168209 [GRCh38]
Chr17:33495228 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.71C>T (p.Ala24Val) single nucleotide variant Inborn genetic diseases [RCV002961795] Chr17:35148334 [GRCh38]
Chr17:33475353 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.297C>T (p.Asp99=) single nucleotide variant not provided [RCV002921882] Chr17:35150139 [GRCh38]
Chr17:33477158 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.934C>T (p.Leu312Phe) single nucleotide variant not provided [RCV002632810] Chr17:35159500 [GRCh38]
Chr17:33486519 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2373+8A>G single nucleotide variant not provided [RCV002583962] Chr17:35180684 [GRCh38]
Chr17:33507703 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2199G>C (p.Gln733His) single nucleotide variant not provided [RCV002635224] Chr17:35177554 [GRCh38]
Chr17:33504573 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1567A>G (p.Ile523Val) single nucleotide variant not provided [RCV002582432] Chr17:35170133 [GRCh38]
Chr17:33497152 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1568T>C (p.Ile523Thr) single nucleotide variant Inborn genetic diseases [RCV002656406] Chr17:35170134 [GRCh38]
Chr17:33497153 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2530-18C>A single nucleotide variant not provided [RCV002814275] Chr17:35186281 [GRCh38]
Chr17:33513300 [GRCh37]
Chr17:17q12		 benign
NM_001267052.2(UNC45B):c.44G>A (p.Arg15Gln) single nucleotide variant Inborn genetic diseases [RCV003255396] Chr17:35148307 [GRCh38]
Chr17:33475326 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1004T>A (p.Val335Glu) single nucleotide variant Inborn genetic diseases [RCV003193023] Chr17:35164019 [GRCh38]
Chr17:33491038 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1127G>A (p.Arg376His) single nucleotide variant Inborn genetic diseases [RCV003179723] Chr17:35164142 [GRCh38]
Chr17:33491161 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.625G>A (p.Gly209Ser) single nucleotide variant Inborn genetic diseases [RCV003306617] Chr17:35154727 [GRCh38]
Chr17:33481746 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.119C>A (p.Ala40Asp) single nucleotide variant Inborn genetic diseases [RCV003192365] Chr17:35148382 [GRCh38]
Chr17:33475401 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.650T>A (p.Ile217Asn) single nucleotide variant Inborn genetic diseases [RCV003188656] Chr17:35155306 [GRCh38]
Chr17:33482325 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.146G>A (p.Arg49Gln) single nucleotide variant Inborn genetic diseases [RCV003178268] Chr17:35148409 [GRCh38]
Chr17:33475428 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1151C>T (p.Thr384Met) single nucleotide variant not provided [RCV003139235] Chr17:35164166 [GRCh38]
Chr17:33491185 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.755T>C (p.Leu252Ser) single nucleotide variant not provided [RCV003139236] Chr17:35155411 [GRCh38]
Chr17:33482430 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.712T>A (p.Ser238Thr) single nucleotide variant Inborn genetic diseases [RCV003184686] Chr17:35155368 [GRCh38]
Chr17:33482387 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.862A>C (p.Ser288Arg) single nucleotide variant Inborn genetic diseases [RCV003303859]|not provided [RCV003738418] Chr17:35159428 [GRCh38]
Chr17:33486447 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.248G>A (p.Arg83Gln) single nucleotide variant Inborn genetic diseases [RCV003309981] Chr17:35150090 [GRCh38]
Chr17:33477109 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12		 pathogenic
NM_001267052.2(UNC45B):c.461A>T (p.Lys154Met) single nucleotide variant Inborn genetic diseases [RCV003361469] Chr17:35152972 [GRCh38]
Chr17:33479991 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.937G>A (p.Ala313Thr) single nucleotide variant Inborn genetic diseases [RCV003386101] Chr17:35159503 [GRCh38]
Chr17:33486522 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2462C>T (p.Ala821Val) single nucleotide variant Inborn genetic diseases [RCV003350934] Chr17:35183515 [GRCh38]
Chr17:33510534 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1200G>T (p.Gln400His) single nucleotide variant Inborn genetic diseases [RCV003353443] Chr17:35168109 [GRCh38]
Chr17:33495128 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1789G>A (p.Ala597Thr) single nucleotide variant UNC45B-related condition [RCV003393066] Chr17:35171421 [GRCh38]
Chr17:33498440 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.611C>T (p.Ser204Leu) single nucleotide variant Inborn genetic diseases [RCV003384426] Chr17:35154713 [GRCh38]
Chr17:33481732 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.177C>T (p.Tyr59=) single nucleotide variant not provided [RCV003571119] Chr17:35148981 [GRCh38]
Chr17:33476000 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1612C>T (p.Leu538Phe) single nucleotide variant UNC45B-related condition [RCV003391562] Chr17:35170178 [GRCh38]
Chr17:33497197 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2099C>A (p.Ala700Asp) single nucleotide variant UNC45B-related condition [RCV003397651] Chr17:35177090 [GRCh38]
Chr17:33504109 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2293G>A (p.Glu765Lys) single nucleotide variant Myofibrillar myopathy 11 [RCV003482497] Chr17:35180596 [GRCh38]
Chr17:33507615 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1389G>A (p.Val463=) single nucleotide variant not provided [RCV003428224] Chr17:35168298 [GRCh38]
Chr17:33495317 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.992T>A (p.Ile331Asn) single nucleotide variant UNC45B-related condition [RCV003412342] Chr17:35164007 [GRCh38]
Chr17:33491026 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2501A>G (p.Lys834Arg) single nucleotide variant UNC45B-related condition [RCV003421107] Chr17:35183554 [GRCh38]
Chr17:33510573 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2628C>T (p.Ala876=) single nucleotide variant not provided [RCV003419708] Chr17:35186397 [GRCh38]
Chr17:33513416 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.113A>G (p.Asp38Gly) single nucleotide variant not provided [RCV003428223] Chr17:35148376 [GRCh38]
Chr17:33475395 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.2139+18T>C single nucleotide variant not provided [RCV003879874] Chr17:35177148 [GRCh38]
Chr17:33504167 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2529+12C>T single nucleotide variant not provided [RCV003831295] Chr17:35183594 [GRCh38]
Chr17:33510613 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.765G>A (p.Glu255=) single nucleotide variant UNC45B-related condition [RCV003919273]|not provided [RCV003548773] Chr17:35155421 [GRCh38]
Chr17:33482440 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.535A>G (p.Asn179Asp) single nucleotide variant not provided [RCV003724858] Chr17:35154637 [GRCh38]
Chr17:33481656 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2466T>C (p.Ala822=) single nucleotide variant not provided [RCV003726355] Chr17:35183519 [GRCh38]
Chr17:33510538 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.963C>A (p.Ile321=) single nucleotide variant not provided [RCV003725110] Chr17:35159529 [GRCh38]
Chr17:33486548 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1308G>A (p.Thr436=) single nucleotide variant not provided [RCV003554179] Chr17:35168217 [GRCh38]
Chr17:33495236 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1625C>T (p.Ala542Val) single nucleotide variant not provided [RCV003722054] Chr17:35170191 [GRCh38]
Chr17:33497210 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:33316754-33890206)x1 copy number loss not specified [RCV003987224] Chr17:33316754..33890206 [GRCh37]
Chr17:17q12		 uncertain significance
NM_001267052.2(UNC45B):c.1878G>A (p.Ala626=) single nucleotide variant not provided [RCV003542177] Chr17:35174289 [GRCh38]
Chr17:33501308 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.684C>T (p.Ser228=) single nucleotide variant not provided [RCV003677098] Chr17:35155340 [GRCh38]
Chr17:33482359 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.2535C>G (p.Thr845=) single nucleotide variant UNC45B-related condition [RCV003961929] Chr17:35186304 [GRCh38]
Chr17:33513323 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1350G>A (p.Thr450=) single nucleotide variant UNC45B-related condition [RCV003909709] Chr17:35168259 [GRCh38]
Chr17:33495278 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1547+8G>A single nucleotide variant UNC45B-related condition [RCV003927152] Chr17:35169939 [GRCh38]
Chr17:33496958 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.226G>A (p.Asp76Asn) single nucleotide variant UNC45B-related condition [RCV003926877] Chr17:35150068 [GRCh38]
Chr17:33477087 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.96C>A (p.Ala32=) single nucleotide variant UNC45B-related condition [RCV003901516] Chr17:35148359 [GRCh38]
Chr17:33475378 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1302C>T (p.Arg434=) single nucleotide variant UNC45B-related condition [RCV003904750] Chr17:35168211 [GRCh38]
Chr17:33495230 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.210C>A (p.Ile70=) single nucleotide variant UNC45B-related condition [RCV003964260] Chr17:35150052 [GRCh38]
Chr17:33477071 [GRCh37]
Chr17:17q12		 likely benign
NM_001267052.2(UNC45B):c.1637A>T (p.Asp546Val) single nucleotide variant UNC45B-related condition [RCV003924015] Chr17:35170203 [GRCh38]
Chr17:33497222 [GRCh37]
Chr17:17q12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4764
Count of miRNA genes:847
Interacting mature miRNAs:966
Transcripts:ENST00000268876, ENST00000378449, ENST00000394570, ENST00000433649, ENST00000591048
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
STS-AA039430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,515,076 - 33,515,273UniSTSGRCh37
Build 361730,539,189 - 30,539,386RGDNCBI36
Celera1730,425,253 - 30,425,450RGD
Cytogenetic Map17q12UniSTS
HuRef1729,699,702 - 29,699,899UniSTS
GeneMap99-GB4 RH Map17297.07UniSTS
NCBI RH Map17406.0UniSTS
RH103271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,515,066 - 33,515,203UniSTSGRCh37
Build 361730,539,179 - 30,539,316RGDNCBI36
Celera1730,425,243 - 30,425,380RGD
Cytogenetic Map17q12UniSTS
HuRef1729,699,692 - 29,699,829UniSTS
GeneMap99-GB4 RH Map17296.04UniSTS
AA445617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,491,018 - 33,491,137UniSTSGRCh37
Build 361730,515,131 - 30,515,250RGDNCBI36
Celera1730,401,206 - 30,401,325RGD
HuRef1729,675,654 - 29,675,773UniSTS
UniSTS:259446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,504,049 - 33,504,584UniSTSGRCh37
Build 361730,528,162 - 30,528,697RGDNCBI36
Celera1730,414,225 - 30,414,760RGD
HuRef1729,688,676 - 29,689,211UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 5 884 1 9 1 807 1158 1 4 7 11 807 1
Low 188 314 41 58 337 3 76 154 33 17 415 491 55 1 35 45 1
Below cutoff 1947 1687 1383 373 1035 281 3129 809 3006 253 802 823 93 1142 1792 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF539794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX545275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268876   ⟹   ENSP00000268876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,147,817 - 35,189,345 (+)Ensembl
RefSeq Acc Id: ENST00000394570   ⟹   ENSP00000378071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,147,817 - 35,189,343 (+)Ensembl
RefSeq Acc Id: ENST00000591048   ⟹   ENSP00000468335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,148,264 - 35,186,559 (+)Ensembl
RefSeq Acc Id: NM_001033576   ⟹   NP_001028748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,147,817 - 35,189,343 (+)NCBI
GRCh371733,474,787 - 33,516,364 (+)NCBI
Build 361730,498,949 - 30,540,477 (+)NCBI Archive
Celera1730,385,024 - 30,426,539 (+)RGD
HuRef1729,659,471 - 29,700,988 (+)RGD
CHM1_11733,539,195 - 33,580,717 (+)NCBI
T2T-CHM13v2.01736,095,726 - 36,137,278 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267052   ⟹   NP_001253981
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,147,817 - 35,189,343 (+)NCBI
GRCh371733,474,787 - 33,516,364 (+)NCBI
HuRef1729,659,471 - 29,700,988 (+)NCBI
CHM1_11733,539,195 - 33,580,717 (+)NCBI
T2T-CHM13v2.01736,095,726 - 36,137,278 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308281   ⟹   NP_001295210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,148,264 - 35,189,345 (+)NCBI
CHM1_11733,539,642 - 33,580,717 (+)NCBI
T2T-CHM13v2.01736,096,173 - 36,137,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173167   ⟹   NP_775259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,148,264 - 35,189,345 (+)NCBI
GRCh371733,474,787 - 33,516,364 (+)NCBI
Build 361730,498,949 - 30,540,477 (+)NCBI Archive
Celera1730,385,024 - 30,426,539 (+)RGD
HuRef1729,659,471 - 29,700,988 (+)RGD
CHM1_11733,539,642 - 33,580,717 (+)NCBI
T2T-CHM13v2.01736,096,173 - 36,137,280 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024234   ⟹   XP_016879723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,147,817 - 35,189,345 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054315208   ⟹   XP_054171183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01736,095,726 - 36,137,280 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_775259   ⟸   NM_173167
- Peptide Label: isoform 1
- UniProtKB: Q495Q8 (UniProtKB/Swiss-Prot),   Q495Q9 (UniProtKB/Swiss-Prot),   Q8IWX7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001028748   ⟸   NM_001033576
- Peptide Label: isoform 2
- UniProtKB: Q8IWX7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001253981   ⟸   NM_001267052
- Peptide Label: isoform 2
- UniProtKB: Q8IWX7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295210   ⟸   NM_001308281
- Peptide Label: isoform 3
- UniProtKB: Q8IWX7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879723   ⟸   XM_017024234
- Peptide Label: isoform X1
- UniProtKB: Q8IWX7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000268876   ⟸   ENST00000268876
RefSeq Acc Id: ENSP00000378071   ⟸   ENST00000394570
RefSeq Acc Id: ENSP00000468335   ⟸   ENST00000591048
RefSeq Acc Id: XP_054171183   ⟸   XM_054315208
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IWX7-F1-model_v2 AlphaFold Q8IWX7 1-931 view protein structure

Promoters
RGD ID:7234631
Promoter ID:EPDNEW_H23061
Type:initiation region
Name:UNC45B_1
Description:unc-45 myosin chaperone B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23062  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,147,817 - 35,147,877EPDNEW
RGD ID:7234633
Promoter ID:EPDNEW_H23062
Type:initiation region
Name:UNC45B_2
Description:unc-45 myosin chaperone B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23061  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,148,183 - 35,148,243EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14304 AgrOrtholog
COSMIC UNC45B COSMIC
Ensembl Genes ENSG00000141161 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000268876 ENTREZGENE
  ENST00000268876.9 UniProtKB/Swiss-Prot
  ENST00000394570 ENTREZGENE
  ENST00000394570.7 UniProtKB/Swiss-Prot
  ENST00000591048 ENTREZGENE
  ENST00000591048.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000141161 GTEx
HGNC ID HGNC:14304 ENTREZGENE
Human Proteome Map UNC45B Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot
  Armadillo UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
  TPR_repeat UniProtKB/Swiss-Prot
  UCS_central_dom UniProtKB/Swiss-Prot
KEGG Report hsa:146862 UniProtKB/Swiss-Prot
NCBI Gene 146862 ENTREZGENE
OMIM 611220 OMIM
PANTHER FI21225P1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN UNC-45 HOMOLOG B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UNC45-central UniProtKB/Swiss-Prot
PharmGKB PA26655 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot
  TPR_REGION UniProtKB/Swiss-Prot
SMART ARM UniProtKB/Swiss-Prot
  TPR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
  SSF48452 UniProtKB/Swiss-Prot
UniProt A0A1B1PFW5_HUMAN UniProtKB/TrEMBL
  Q495Q8 ENTREZGENE
  Q495Q9 ENTREZGENE
  Q8IWX7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q495Q8 UniProtKB/Swiss-Prot
  Q495Q9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-23 UNC45B  unc-45 myosin chaperone B  UNC45B  unc-45 homolog B (C. elegans)  Symbol and/or name change 5135510 APPROVED