UBXN6 (UBX domain protein 6) - Rat Genome Database

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Gene: UBXN6 (UBX domain protein 6) Homo sapiens
Analyze
Symbol: UBXN6
Name: UBX domain protein 6
RGD ID: 1347744
HGNC Page HGNC:14928
Description: Involved in ERAD pathway; endosome to lysosome transport via multivesicular body sorting pathway; and macroautophagy. Located in bounding membrane of organelle and cytosol. Part of endosome and protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CTB-50L17.16; DKFZp667D109; FLJ00394; UBX domain containing 1; UBX domain-containing 1; UBX domain-containing 2; UBX domain-containing protein 1; UBX domain-containing protein 6; UBXD1; UBXDC2
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
GRCh38194,445,006 - 4,457,879 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl194,444,999 - 4,457,794 (-)EnsemblGRCh38hg38GRCh38
GRCh37194,445,003 - 4,457,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,396,261 - 4,408,790 (-)NCBINCBI36Build 36hg18NCBI36
Build 34194,396,260 - 4,408,790NCBI
Celera194,383,244 - 4,396,018 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef194,207,464 - 4,220,339 (-)NCBIHuRef
CHM1_1194,444,589 - 4,457,323 (-)NCBICHM1_1
T2T-CHM13v2.0194,428,463 - 4,442,199 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)
genetic disease  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11342112   PMID:12477932   PMID:15489334   PMID:16341674   PMID:16807242   PMID:18029348   PMID:18656546   PMID:18775313   PMID:19056867   PMID:19174149   PMID:19275885   PMID:19322201  
PMID:20804422   PMID:21822278   PMID:21832049   PMID:21873635   PMID:21896481   PMID:21900206   PMID:21914798   PMID:22337587   PMID:22350894   PMID:22658674   PMID:22939629   PMID:23335559  
PMID:23349634   PMID:23383273   PMID:23824909   PMID:25078495   PMID:25416956   PMID:25464930   PMID:26186194   PMID:26389662   PMID:26475856   PMID:27561680   PMID:27753622   PMID:27762274  
PMID:27913212   PMID:28443643   PMID:28514442   PMID:28986522   PMID:29117863   PMID:29540532   PMID:29599191   PMID:29892012   PMID:29997244   PMID:30120381   PMID:30639242   PMID:31158522  
PMID:31515488   PMID:31847414   PMID:32296183   PMID:32814053   PMID:32814769   PMID:32994395   PMID:33961781   PMID:34021047   PMID:34079125   PMID:34315543   PMID:34597346   PMID:34599178  
PMID:34839354   PMID:34917906   PMID:35256949   PMID:35271311   PMID:35389758   PMID:35509820   PMID:35831314   PMID:36215168   PMID:36300783  


Genomics

Comparative Map Data
UBXN6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38194,445,006 - 4,457,879 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl194,444,999 - 4,457,794 (-)EnsemblGRCh38hg38GRCh38
GRCh37194,445,003 - 4,457,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,396,261 - 4,408,790 (-)NCBINCBI36Build 36hg18NCBI36
Build 34194,396,260 - 4,408,790NCBI
Celera194,383,244 - 4,396,018 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef194,207,464 - 4,220,339 (-)NCBIHuRef
CHM1_1194,444,589 - 4,457,323 (-)NCBICHM1_1
T2T-CHM13v2.0194,428,463 - 4,442,199 (-)NCBIT2T-CHM13v2.0
Ubxn6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391756,374,045 - 56,386,333 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1756,374,045 - 56,382,028 (-)EnsemblGRCm39 Ensembl
GRCm381756,067,045 - 56,079,333 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,067,045 - 56,075,028 (-)EnsemblGRCm38mm10GRCm38
MGSCv371756,207,676 - 56,214,412 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361755,661,546 - 55,668,282 (-)NCBIMGSCv36mm8
Celera1759,486,915 - 59,493,651 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.14NCBI
Ubxn6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89988,051 - 993,221 (-)NCBIGRCr8
mRatBN7.29900,883 - 906,047 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9900,884 - 906,124 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx91,347,995 - 1,353,109 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.096,694,563 - 6,699,666 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.095,653,032 - 5,658,146 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0910,995,516 - 11,000,643 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl910,995,198 - 11,000,642 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.099,982,433 - 9,987,589 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera97,601,054 - 7,606,148 (+)NCBICelera
Cytogenetic Map9q11NCBI
Ubxn6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,456,308 - 4,466,254 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,456,182 - 4,465,954 (+)NCBIChiLan1.0ChiLan1.0
UBXN6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2208,838,347 - 8,851,379 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1198,067,462 - 8,079,687 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0193,463,259 - 3,475,428 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1194,410,952 - 4,423,113 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl194,410,952 - 4,423,092 (-)Ensemblpanpan1.1panPan2
UBXN6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12055,228,026 - 55,246,333 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2055,227,729 - 55,245,940 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2054,956,629 - 54,974,574 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02055,886,799 - 55,904,984 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2055,894,672 - 55,904,980 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12054,955,806 - 54,966,063 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02055,429,034 - 55,446,964 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02055,627,722 - 55,645,668 (+)NCBIUU_Cfam_GSD_1.0
Ubxn6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118215,253,780 - 215,269,310 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365882,565,461 - 2,578,624 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365882,565,473 - 2,578,721 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBXN6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl274,357,517 - 74,378,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1274,357,522 - 74,378,600 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2274,858,008 - 74,871,543 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBXN6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.164,175,858 - 4,188,687 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl64,175,108 - 4,188,649 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660814,011,232 - 4,024,463 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ubxn6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248285,258,023 - 5,264,989 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248285,257,960 - 5,265,371 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBXN6
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1 copy number loss See cases [RCV000051190] Chr19:4417986..4721866 [GRCh38]
Chr19:4417983..4721878 [GRCh37]
Chr19:4368983..4672878 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3 copy number gain See cases [RCV000052880] Chr19:4008560..4763159 [GRCh38]
Chr19:4008558..4763171 [GRCh37]
Chr19:3959558..4714171 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 copy number loss See cases [RCV000053943] Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_001171091.1(UBXN6):c.810G>A (p.Arg270=) single nucleotide variant Malignant melanoma [RCV000072131] Chr19:4446365 [GRCh38]
Chr19:4446362 [GRCh37]
Chr19:4397362 [NCBI36]
Chr19:19p13.3		 not provided
NM_001171091.1(UBXN6):c.809G>A (p.Arg270Gln) single nucleotide variant Malignant melanoma [RCV000072132] Chr19:4446366 [GRCh38]
Chr19:4446363 [GRCh37]
Chr19:4397363 [NCBI36]
Chr19:19p13.3		 not provided
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 copy number gain See cases [RCV000134164] Chr19:3947934..5196676 [GRCh38]
Chr19:3947932..5196687 [GRCh37]
Chr19:3898932..5147687 [NCBI36]
Chr19:19p13.3		 pathogenic|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 copy number loss See cases [RCV000143614] Chr19:3788727..5147354 [GRCh38]
Chr19:3788725..5147365 [GRCh37]
Chr19:3739725..5098365 [NCBI36]
Chr19:19p13.3		 likely pathogenic
NM_025241.3(UBXN6):c.564C>A (p.His188Gln) single nucleotide variant Inborn genetic diseases [RCV003279190] Chr19:4447601 [GRCh38]
Chr19:4447598 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_025241.3(UBXN6):c.799C>T (p.Arg267Cys) single nucleotide variant Inborn genetic diseases [RCV003251640] Chr19:4446621 [GRCh38]
Chr19:4446618 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
Single allele duplication Primary amenorrhea [RCV000754469] Chr19:3718839..4604407 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:4449287-4472098)x1 copy number loss not provided [RCV000752533] Chr19:4449287..4472098 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3 copy number gain not provided [RCV001833036] Chr19:4182912..4633772 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1 copy number loss not provided [RCV001834187] Chr19:3501624..5357124 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.1294G>A (p.Glu432Lys) single nucleotide variant Inborn genetic diseases [RCV002880070] Chr19:4445530 [GRCh38]
Chr19:4445527 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.361G>A (p.Val121Met) single nucleotide variant Inborn genetic diseases [RCV002945356] Chr19:4452444 [GRCh38]
Chr19:4452441 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.58G>A (p.Gly20Ser) single nucleotide variant Inborn genetic diseases [RCV002753443] Chr19:4457640 [GRCh38]
Chr19:4457637 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.488C>T (p.Thr163Met) single nucleotide variant Inborn genetic diseases [RCV002733660] Chr19:4448369 [GRCh38]
Chr19:4448366 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.559C>G (p.Leu187Val) single nucleotide variant Inborn genetic diseases [RCV002973413] Chr19:4447606 [GRCh38]
Chr19:4447603 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.938G>T (p.Arg313Leu) single nucleotide variant Inborn genetic diseases [RCV002981160] Chr19:4446396 [GRCh38]
Chr19:4446393 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.283G>A (p.Gly95Arg) single nucleotide variant Inborn genetic diseases [RCV002704414] Chr19:4453487 [GRCh38]
Chr19:4453484 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.574G>A (p.Glu192Lys) single nucleotide variant Inborn genetic diseases [RCV002739299] Chr19:4447591 [GRCh38]
Chr19:4447588 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.973A>G (p.Lys325Glu) single nucleotide variant Inborn genetic diseases [RCV002951394] Chr19:4446361 [GRCh38]
Chr19:4446358 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.1240G>A (p.Val414Met) single nucleotide variant Inborn genetic diseases [RCV003000599] Chr19:4445584 [GRCh38]
Chr19:4445581 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.320A>G (p.Glu107Gly) single nucleotide variant Inborn genetic diseases [RCV002661679] Chr19:4452485 [GRCh38]
Chr19:4452482 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.119C>T (p.Ala40Val) single nucleotide variant Inborn genetic diseases [RCV002997881] Chr19:4454058 [GRCh38]
Chr19:4454055 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.881A>G (p.Asn294Ser) single nucleotide variant Inborn genetic diseases [RCV002925074] Chr19:4446539 [GRCh38]
Chr19:4446536 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.662T>C (p.Ile221Thr) single nucleotide variant Inborn genetic diseases [RCV003004664] Chr19:4446874 [GRCh38]
Chr19:4446871 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.1270G>A (p.Glu424Lys) single nucleotide variant Inborn genetic diseases [RCV002713143] Chr19:4445554 [GRCh38]
Chr19:4445551 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.305C>G (p.Thr102Ser) single nucleotide variant Inborn genetic diseases [RCV002956694] Chr19:4453465 [GRCh38]
Chr19:4453462 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.205C>T (p.Arg69Trp) single nucleotide variant Inborn genetic diseases [RCV002916272] Chr19:4453972 [GRCh38]
Chr19:4453969 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.953G>A (p.Arg318Gln) single nucleotide variant Inborn genetic diseases [RCV002827177] Chr19:4446381 [GRCh38]
Chr19:4446378 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.946G>C (p.Val316Leu) single nucleotide variant Inborn genetic diseases [RCV002835867] Chr19:4446388 [GRCh38]
Chr19:4446385 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.619C>T (p.Arg207Cys) single nucleotide variant Inborn genetic diseases [RCV002879317] Chr19:4446917 [GRCh38]
Chr19:4446914 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.734C>G (p.Thr245Ser) single nucleotide variant Inborn genetic diseases [RCV002855775] Chr19:4446686 [GRCh38]
Chr19:4446683 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.769A>G (p.Lys257Glu) single nucleotide variant Inborn genetic diseases [RCV002719219] Chr19:4446651 [GRCh38]
Chr19:4446648 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.1262C>T (p.Ala421Val) single nucleotide variant Inborn genetic diseases [RCV002792889] Chr19:4445562 [GRCh38]
Chr19:4445559 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.568G>A (p.Glu190Lys) single nucleotide variant Inborn genetic diseases [RCV003172817] Chr19:4447597 [GRCh38]
Chr19:4447594 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.737C>G (p.Thr246Ser) single nucleotide variant Inborn genetic diseases [RCV003180476] Chr19:4446683 [GRCh38]
Chr19:4446680 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.224C>T (p.Ser75Leu) single nucleotide variant Inborn genetic diseases [RCV003190042] Chr19:4453953 [GRCh38]
Chr19:4453950 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.645C>T (p.His215=) single nucleotide variant not provided [RCV003423212] Chr19:4446891 [GRCh38]
Chr19:4446888 [GRCh37]
Chr19:19p13.3		 likely benign
NM_025241.3(UBXN6):c.938G>A (p.Arg313Gln) single nucleotide variant Inborn genetic diseases [RCV003343327] Chr19:4446396 [GRCh38]
Chr19:4446393 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.1090G>T (p.Gly364Trp) single nucleotide variant Inborn genetic diseases [RCV003376461] Chr19:4446159 [GRCh38]
Chr19:4446156 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.134G>A (p.Arg45His) single nucleotide variant Inborn genetic diseases [RCV003353943] Chr19:4454043 [GRCh38]
Chr19:4454040 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.259C>T (p.Leu87Phe) single nucleotide variant Inborn genetic diseases [RCV003376026] Chr19:4453511 [GRCh38]
Chr19:4453508 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_025241.3(UBXN6):c.172G>A (p.Ala58Thr) single nucleotide variant Inborn genetic diseases [RCV003374187] Chr19:4454005 [GRCh38]
Chr19:4454002 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1 copy number loss not specified [RCV003986118] Chr19:3788725..4881494 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1 copy number loss not specified [RCV003986126] Chr19:4337998..4809241 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3614
Count of miRNA genes:832
Interacting mature miRNAs:1016
Transcripts:ENST00000301281, ENST00000394765, ENST00000587009, ENST00000587324, ENST00000588238, ENST00000590466, ENST00000591919, ENST00000592358, ENST00000592515, ENST00000593024
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.

Markers in Region
RH80339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,445,045 - 4,445,275UniSTSGRCh37
Build 36194,396,045 - 4,396,275RGDNCBI36
Celera194,383,286 - 4,383,516RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13UniSTS
HuRef194,207,506 - 4,207,736UniSTS
GeneMap99-GB4 RH Map1933.46UniSTS
RH67001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,445,037 - 4,445,270UniSTSGRCh37
Build 36194,396,037 - 4,396,270RGDNCBI36
Celera194,383,278 - 4,383,511RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13UniSTS
HuRef194,207,498 - 4,207,731UniSTS
G42939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,445,045 - 4,445,169UniSTSGRCh37
Build 36194,396,045 - 4,396,169RGDNCBI36
Celera194,383,286 - 4,383,410RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13UniSTS
HuRef194,207,506 - 4,207,630UniSTS
RH78272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,445,086 - 4,445,220UniSTSGRCh37
Build 36194,396,086 - 4,396,220RGDNCBI36
Celera194,383,327 - 4,383,461RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13UniSTS
HuRef194,207,547 - 4,207,681UniSTS
GeneMap99-GB4 RH Map1931.19UniSTS
G34951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,445,037 - 4,445,270UniSTSGRCh37
Celera194,383,278 - 4,383,511UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13UniSTS
HuRef194,207,498 - 4,207,731UniSTS


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 adipose tissue appendage entire extraembryonic component
High 5 5
Medium 2429 2969 1721 620 1930 462 4355 2186 3708 416 1447 1608 171 1204 2788 4
Low 3 10 2 2 12 2 1 9 4 2 5 2 1
Below cutoff 2 3 1 1 1 13 6 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001171091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM764980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301281   ⟹   ENSP00000301281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,445,006 - 4,457,794 (-)Ensembl
RefSeq Acc Id: ENST00000394765   ⟹   ENSP00000378246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,445,010 - 4,455,298 (-)Ensembl
RefSeq Acc Id: ENST00000587009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,445,010 - 4,448,116 (-)Ensembl
RefSeq Acc Id: ENST00000587324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,445,476 - 4,446,698 (-)Ensembl
RefSeq Acc Id: ENST00000588238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,445,007 - 4,449,604 (-)Ensembl
RefSeq Acc Id: ENST00000590466   ⟹   ENSP00000466148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,445,091 - 4,446,620 (-)Ensembl
RefSeq Acc Id: ENST00000591919   ⟹   ENSP00000467206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,444,999 - 4,454,093 (-)Ensembl
RefSeq Acc Id: ENST00000592358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,447,839 - 4,452,412 (-)Ensembl
RefSeq Acc Id: ENST00000592515   ⟹   ENSP00000464967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,448,396 - 4,455,438 (-)Ensembl
RefSeq Acc Id: ENST00000593024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,447,550 - 4,448,870 (-)Ensembl
RefSeq Acc Id: NM_001171091   ⟹   NP_001164562
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,445,006 - 4,455,301 (-)NCBI
GRCh37194,445,003 - 4,457,791 (-)RGD
Celera194,383,244 - 4,396,018 (-)RGD
HuRef194,207,464 - 4,220,339 (-)ENTREZGENE
CHM1_1194,444,589 - 4,454,868 (-)NCBI
T2T-CHM13v2.0194,428,463 - 4,438,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025241   ⟹   NP_079517
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,445,006 - 4,457,794 (-)NCBI
GRCh37194,445,003 - 4,457,791 (-)RGD
Build 36194,396,261 - 4,408,790 (-)NCBI Archive
Celera194,383,244 - 4,396,018 (-)RGD
HuRef194,207,464 - 4,220,339 (-)ENTREZGENE
CHM1_1194,444,589 - 4,457,323 (-)NCBI
T2T-CHM13v2.0194,428,463 - 4,441,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027325   ⟹   XP_016882814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,445,006 - 4,457,879 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439470   ⟹   XP_047295426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,446,107 - 4,457,879 (-)NCBI
RefSeq Acc Id: XM_054322231   ⟹   XP_054178206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0194,428,463 - 4,442,199 (-)NCBI
RefSeq Acc Id: XM_054322232   ⟹   XP_054178207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0194,428,463 - 4,440,447 (-)NCBI
RefSeq Acc Id: XM_054322233   ⟹   XP_054178208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0194,429,564 - 4,442,199 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079517   ⟸   NM_025241
- Peptide Label: isoform 1
- UniProtKB: Q96IK9 (UniProtKB/Swiss-Prot),   Q96AH1 (UniProtKB/Swiss-Prot),   D6W626 (UniProtKB/Swiss-Prot),   Q9BZV0 (UniProtKB/Swiss-Prot),   Q9BZV1 (UniProtKB/Swiss-Prot),   K7EP32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164562   ⟸   NM_001171091
- Peptide Label: isoform 2
- UniProtKB: K7EP32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882814   ⟸   XM_017027325
- Peptide Label: isoform X1
- UniProtKB: K7EP32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000466148   ⟸   ENST00000590466
RefSeq Acc Id: ENSP00000301281   ⟸   ENST00000301281
RefSeq Acc Id: ENSP00000378246   ⟸   ENST00000394765
RefSeq Acc Id: ENSP00000467206   ⟸   ENST00000591919
RefSeq Acc Id: ENSP00000464967   ⟸   ENST00000592515
RefSeq Acc Id: XP_047295426   ⟸   XM_047439470
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178206   ⟸   XM_054322231
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054178207   ⟸   XM_054322232
- Peptide Label: isoform X4
- UniProtKB: K7EP32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178208   ⟸   XM_054322233
- Peptide Label: isoform X5
Protein Domains
PUB   UBX

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZV1-F1-model_v2 AlphaFold Q9BZV1 1-441 view protein structure

Promoters
RGD ID:6796161
Promoter ID:HG_KWN:28578
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001171091
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,405,936 - 4,406,436 (-)MPROMDB
RGD ID:6796159
Promoter ID:HG_KWN:28579
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_025241
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,408,764 - 4,409,264 (-)MPROMDB
RGD ID:7238095
Promoter ID:EPDNEW_H24794
Type:initiation region
Name:UBXN6_2
Description:UBX domain protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24796  EPDNEW_H24797  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,455,301 - 4,455,361EPDNEW
RGD ID:7238101
Promoter ID:EPDNEW_H24796
Type:initiation region
Name:UBXN6_1
Description:UBX domain protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24794  EPDNEW_H24797  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,457,786 - 4,457,846EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14928 AgrOrtholog
COSMIC UBXN6 COSMIC
Ensembl Genes ENSG00000167671 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301281 ENTREZGENE
  ENST00000301281.11 UniProtKB/Swiss-Prot
  ENST00000394765 ENTREZGENE
  ENST00000394765.7 UniProtKB/Swiss-Prot
  ENST00000590466.2 UniProtKB/TrEMBL
  ENST00000591919 ENTREZGENE
  ENST00000591919.5 UniProtKB/TrEMBL
  ENST00000592515.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.2190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167671 GTEx
HGNC ID HGNC:14928 ENTREZGENE
Human Proteome Map UBXN6 Human Proteome Map
InterPro PUB-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUB_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBX_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBXN6_PUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80700 UniProtKB/Swiss-Prot
NCBI Gene 80700 ENTREZGENE
OMIM 611946 OMIM
PANTHER UBX DOMAIN-CONTAINING PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBX-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162408446 PharmGKB
PROSITE UBX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PUG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF143503 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6W626 ENTREZGENE
  K7EJ02_HUMAN UniProtKB/TrEMBL
  K7ELN1_HUMAN UniProtKB/TrEMBL
  K7EP32 ENTREZGENE, UniProtKB/TrEMBL
  Q96AH1 ENTREZGENE
  Q96IK9 ENTREZGENE
  Q9BZV0 ENTREZGENE
  Q9BZV1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D6W626 UniProtKB/Swiss-Prot
  Q96AH1 UniProtKB/Swiss-Prot
  Q96IK9 UniProtKB/Swiss-Prot
  Q9BZV0 UniProtKB/Swiss-Prot