USP6NL (USP6 N-terminal like) - Rat Genome Database

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Gene: USP6NL (USP6 N-terminal like) Homo sapiens
Analyze
Symbol: USP6NL
Name: USP6 N-terminal like
RGD ID: 1323420
HGNC Page HGNC:16858
Description: Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including plasma membrane to endosome transport; regulation of Golgi organization; and retrograde transport, plasma membrane to Golgi. Located in cytoplasmic vesicle and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0019; related to the N terminus of tre; related to the N-terminus of tre; RN-tre; RNTRE; TRE2NL; USP6 N-terminal-like protein; USP6NL intronic transcript 1 (non-protein coding); USP6NL-IT1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381011,460,510 - 11,611,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1011,460,510 - 11,611,666 (-)EnsemblGRCh38hg38GRCh38
GRCh371011,502,509 - 11,653,649 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361011,542,515 - 11,614,280 (-)NCBINCBI36Build 36hg18NCBI36
Celera1011,431,129 - 11,582,310 (-)NCBICelera
Cytogenetic Map10p14NCBI
HuRef1011,421,155 - 11,572,059 (-)NCBIHuRef
CHM1_11011,502,284 - 11,653,633 (-)NCBICHM1_1
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)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

Cellular Component

Molecular Function

Molecular Pathway 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. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7584026   PMID:7584028   PMID:8700515   PMID:8700527   PMID:8889548   PMID:11076863   PMID:11099046   PMID:12399475   PMID:12477932   PMID:14521938   PMID:14702039   PMID:15144186  
PMID:15152255   PMID:15489334   PMID:15489336   PMID:16381901   PMID:17081983   PMID:17371873   PMID:17562788   PMID:17646400   PMID:17684057   PMID:19077034   PMID:20379614   PMID:21244100  
PMID:21680502   PMID:21832049   PMID:21873635   PMID:22658674   PMID:23251661   PMID:24550385   PMID:25468996   PMID:26496610   PMID:26638075   PMID:28183528   PMID:29180619   PMID:29507755  
PMID:29691252   PMID:29987050   PMID:30194290   PMID:30639242   PMID:31048545   PMID:31527615   PMID:31586073   PMID:31871319   PMID:32780723   PMID:33054738   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34315543   PMID:34369648   PMID:34597346   PMID:34702444   PMID:35198878   PMID:35271311   PMID:35337019   PMID:35384245   PMID:35944360   PMID:36215168   PMID:36574265  
PMID:36931259   PMID:37931956   PMID:38117590  


Genomics

Comparative Map Data
USP6NL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381011,460,510 - 11,611,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1011,460,510 - 11,611,666 (-)EnsemblGRCh38hg38GRCh38
GRCh371011,502,509 - 11,653,649 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361011,542,515 - 11,614,280 (-)NCBINCBI36Build 36hg18NCBI36
Celera1011,431,129 - 11,582,310 (-)NCBICelera
Cytogenetic Map10p14NCBI
HuRef1011,421,155 - 11,572,059 (-)NCBIHuRef
CHM1_11011,502,284 - 11,653,633 (-)NCBICHM1_1
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)NCBIT2T-CHM13v2.0
Usp6nl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3926,327,444 - 6,453,107 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl26,327,478 - 6,451,201 (+)EnsemblGRCm39 Ensembl
GRCm3826,322,757 - 6,448,296 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl26,322,667 - 6,446,390 (+)EnsemblGRCm38mm10GRCm38
MGSCv3726,243,803 - 6,364,866 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3626,270,005 - 6,360,769 (+)NCBIMGSCv36mm8
Celera26,262,850 - 6,384,095 (+)NCBICelera
Cytogenetic Map2A1NCBI
cM Map23.63NCBI
Usp6nl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81776,737,870 - 76,865,953 (-)NCBIGRCr8
mRatBN7.21771,828,433 - 71,956,878 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1771,830,469 - 71,956,027 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1775,331,332 - 75,459,049 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01779,152,755 - 79,280,482 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01773,203,033 - 73,330,762 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01775,759,428 - 75,887,108 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1775,761,469 - 75,886,523 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01777,415,385 - 77,542,080 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41783,131,513 - 83,256,483 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11783,144,914 - 83,197,580 (-)NCBI
Celera1771,290,276 - 71,414,326 (-)NCBICelera
Cytogenetic Map17q12.3NCBI
Usp6nl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542127,471,483 - 27,593,775 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542127,469,652 - 27,593,771 (-)NCBIChiLan1.0ChiLan1.0
USP6NL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2823,983,055 - 24,123,293 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11023,988,387 - 24,128,625 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01011,470,413 - 11,542,608 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11011,453,137 - 11,595,083 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1011,453,137 - 11,590,863 (-)Ensemblpanpan1.1panPan2
USP6NL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1224,724,454 - 24,894,052 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl224,743,120 - 24,891,668 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha221,754,223 - 21,923,313 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0225,095,553 - 25,264,511 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl225,114,276 - 25,262,514 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1222,221,258 - 22,389,999 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0223,064,607 - 23,233,746 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0223,779,642 - 23,949,141 (+)NCBIUU_Cfam_GSD_1.0
Usp6nl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934427,470,845 - 27,641,483 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364843,635,960 - 3,800,934 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364843,635,966 - 3,802,906 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USP6NL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1060,241,016 - 60,391,642 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11060,193,505 - 60,398,399 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21066,118,747 - 66,197,460 (+)NCBISscrofa10.2Sscrofa10.2susScr3
USP6NL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1911,516,243 - 11,670,302 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl911,514,090 - 11,670,301 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605117,011,282 - 17,167,545 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Usp6nl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247756,670,563 - 6,811,235 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247756,662,824 - 6,876,708 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USP6NL
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_014688.3(USP6NL):c.5-18992C>T single nucleotide variant Lung cancer [RCV000108676] Chr10:11546559 [GRCh38]
Chr10:11588558 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p14(chr10:10750899-11713049)x1 copy number loss See cases [RCV000134903] Chr10:10750899..11713049 [GRCh38]
Chr10:10792862..11755048 [GRCh37]
Chr10:10832868..11795054 [NCBI36]
Chr10:10p14		 uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14		 pathogenic|uncertain significance
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1 copy number loss See cases [RCV000137307] Chr10:7428770..21587752 [GRCh38]
Chr10:7470732..21876681 [GRCh37]
Chr10:7510738..21916687 [NCBI36]
Chr10:10p14-12.31		 pathogenic|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p14(chr10:10940950-11775908)x1 copy number loss See cases [RCV000138064] Chr10:10940950..11775908 [GRCh38]
Chr10:10982913..11817907 [GRCh37]
Chr10:11022919..11857913 [NCBI36]
Chr10:10p14		 uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
GRCh37/hg19 10p14(chr10:10738799-11771542)x3 copy number gain See cases [RCV000511314] Chr10:10738799..11771542 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p14-13(chr10:9180833-12424863)x3 copy number gain See cases [RCV000446118] Chr10:9180833..12424863 [GRCh37]
Chr10:10p14-13		 uncertain significance
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
NM_014688.5(USP6NL):c.1352G>A (p.Arg451Lys) single nucleotide variant not specified [RCV004314130] Chr10:11463576 [GRCh38]
Chr10:11505575 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.58G>A (p.Ala20Thr) single nucleotide variant not specified [RCV004286117] Chr10:11527514 [GRCh38]
Chr10:11569513 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1003G>A (p.Asp335Asn) single nucleotide variant not specified [RCV004313046] Chr10:11481845 [GRCh38]
Chr10:11523844 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p14(chr10:10680064-11529624)x3 copy number gain not provided [RCV000683249] Chr10:10680064..11529624 [GRCh37]
Chr10:10p14		 uncertain significance
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_014688.5(USP6NL):c.1994A>G (p.Asn665Ser) single nucleotide variant not specified [RCV004322280] Chr10:11462934 [GRCh38]
Chr10:11504933 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1 copy number loss not provided [RCV000847381] Chr10:11435205..12314999 [GRCh37]
Chr10:10p14-13		 uncertain significance
NM_014688.5(USP6NL):c.2423C>T (p.Pro808Leu) single nucleotide variant not specified [RCV004292537] Chr10:11462505 [GRCh38]
Chr10:11504504 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1511T>C (p.Met504Thr) single nucleotide variant not specified [RCV004299360] Chr10:11463417 [GRCh38]
Chr10:11505416 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1541C>T (p.Ala514Val) single nucleotide variant not specified [RCV004326566] Chr10:11463387 [GRCh38]
Chr10:11505386 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1216G>C (p.Gly406Arg) single nucleotide variant not specified [RCV004286217] Chr10:11463712 [GRCh38]
Chr10:11505711 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p14-13(chr10:9137489-17227168) copy number loss Neurodevelopmental delay [RCV001352639] Chr10:9137489..17227168 [GRCh37]
Chr10:10p14-13		 pathogenic
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) copy number gain not specified [RCV002052863] Chr10:6273934..34732521 [GRCh37]
Chr10:10p15.1-11.21		 pathogenic
NM_014688.5(USP6NL):c.1816A>G (p.Lys606Glu) single nucleotide variant not specified [RCV004325506] Chr10:11463112 [GRCh38]
Chr10:11505111 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3 copy number gain not provided [RCV002472393] Chr10:100027..12648149 [GRCh37]
Chr10:10p15.3-13		 uncertain significance
NM_014688.5(USP6NL):c.2067C>G (p.Ser689Arg) single nucleotide variant not specified [RCV004242551] Chr10:11462861 [GRCh38]
Chr10:11504860 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1114C>A (p.Gln372Lys) single nucleotide variant not specified [RCV004244133] Chr10:11463814 [GRCh38]
Chr10:11505813 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1052G>A (p.Arg351Gln) single nucleotide variant not specified [RCV004139259] Chr10:11481796 [GRCh38]
Chr10:11523795 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p14(chr10:7636590-11590970)x3 copy number gain not provided [RCV002475712] Chr10:7636590..11590970 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1682G>A (p.Ser561Asn) single nucleotide variant not specified [RCV004117156] Chr10:11463246 [GRCh38]
Chr10:11505245 [GRCh37]
Chr10:10p14		 likely benign
NM_014688.5(USP6NL):c.1871G>A (p.Arg624Gln) single nucleotide variant not specified [RCV004100871] Chr10:11463057 [GRCh38]
Chr10:11505056 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.820G>A (p.Asp274Asn) single nucleotide variant not specified [RCV004236067] Chr10:11485174 [GRCh38]
Chr10:11527173 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1144G>A (p.Val382Ile) single nucleotide variant not specified [RCV004127832] Chr10:11463784 [GRCh38]
Chr10:11505783 [GRCh37]
Chr10:10p14		 likely benign
NM_014688.5(USP6NL):c.1247C>T (p.Pro416Leu) single nucleotide variant not specified [RCV004199667] Chr10:11463681 [GRCh38]
Chr10:11505680 [GRCh37]
Chr10:10p14		 likely benign
NM_014688.5(USP6NL):c.772A>G (p.Ile258Val) single nucleotide variant not specified [RCV004100627] Chr10:11485222 [GRCh38]
Chr10:11527221 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1756C>T (p.Pro586Ser) single nucleotide variant not specified [RCV004124566] Chr10:11463172 [GRCh38]
Chr10:11505171 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.818T>G (p.Leu273Arg) single nucleotide variant not specified [RCV004134156] Chr10:11485176 [GRCh38]
Chr10:11527175 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2048A>G (p.Lys683Arg) single nucleotide variant not specified [RCV004108724] Chr10:11462880 [GRCh38]
Chr10:11504879 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1739C>T (p.Ala580Val) single nucleotide variant not specified [RCV004178620] Chr10:11463189 [GRCh38]
Chr10:11505188 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1184C>G (p.Pro395Arg) single nucleotide variant not specified [RCV004105557] Chr10:11463744 [GRCh38]
Chr10:11505743 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2212G>A (p.Glu738Lys) single nucleotide variant not specified [RCV004198837] Chr10:11462716 [GRCh38]
Chr10:11504715 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2380G>A (p.Ala794Thr) single nucleotide variant not specified [RCV004180043] Chr10:11462548 [GRCh38]
Chr10:11504547 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser) single nucleotide variant not specified [RCV004213503] Chr10:11463025 [GRCh38]
Chr10:11505024 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2389G>T (p.Ala797Ser) single nucleotide variant not specified [RCV004239303] Chr10:11462539 [GRCh38]
Chr10:11504538 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1193T>G (p.Leu398Arg) single nucleotide variant not specified [RCV004170714] Chr10:11463735 [GRCh38]
Chr10:11505734 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1173C>A (p.Ser391Arg) single nucleotide variant not specified [RCV004094260] Chr10:11463755 [GRCh38]
Chr10:11505754 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.949G>C (p.Glu317Gln) single nucleotide variant not specified [RCV004143386] Chr10:11481899 [GRCh38]
Chr10:11523898 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.632A>C (p.Lys211Thr) single nucleotide variant not specified [RCV004122527] Chr10:11489134 [GRCh38]
Chr10:11531133 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1157G>A (p.Ser386Asn) single nucleotide variant not specified [RCV004191283] Chr10:11463771 [GRCh38]
Chr10:11505770 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2333C>T (p.Pro778Leu) single nucleotide variant not specified [RCV004263765] Chr10:11462595 [GRCh38]
Chr10:11504594 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.164A>T (p.Glu55Val) single nucleotide variant not specified [RCV004248093] Chr10:11518566 [GRCh38]
Chr10:11560565 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1619A>T (p.Glu540Val) single nucleotide variant not specified [RCV004251864] Chr10:11463309 [GRCh38]
Chr10:11505308 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1198A>C (p.Ser400Arg) single nucleotide variant not specified [RCV004269353] Chr10:11463730 [GRCh38]
Chr10:11505729 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2116G>A (p.Gly706Ser) single nucleotide variant not specified [RCV004267810] Chr10:11462812 [GRCh38]
Chr10:11504811 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_014688.5(USP6NL):c.2099T>C (p.Val700Ala) single nucleotide variant not specified [RCV004359989] Chr10:11462829 [GRCh38]
Chr10:11504828 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.278T>C (p.Phe93Ser) single nucleotide variant not specified [RCV004362059] Chr10:11501207 [GRCh38]
Chr10:11543206 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.618C>A (p.Phe206Leu) single nucleotide variant not specified [RCV004354724] Chr10:11489148 [GRCh38]
Chr10:11531147 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2039C>T (p.Ser680Phe) single nucleotide variant not specified [RCV004341677] Chr10:11462889 [GRCh38]
Chr10:11504888 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3 copy number gain not provided [RCV003484791] Chr10:10175327..13529362 [GRCh37]
Chr10:10p14-13		 uncertain significance
GRCh37/hg19 10p14(chr10:10296118-11974769)x1 copy number loss not specified [RCV003986863] Chr10:10296118..11974769 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p14(chr10:10732066-11771367)x3 copy number gain not specified [RCV003986885] Chr10:10732066..11771367 [GRCh37]
Chr10:10p14		 uncertain significance
GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3 copy number gain See cases [RCV004442806] Chr10:1274308..12045503 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
NM_014688.5(USP6NL):c.1271C>T (p.Thr424Met) single nucleotide variant not specified [RCV004477673] Chr10:11463657 [GRCh38]
Chr10:11505656 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.532A>G (p.Ile178Val) single nucleotide variant not specified [RCV004477686] Chr10:11490843 [GRCh38]
Chr10:11532842 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1054G>A (p.Ala352Thr) single nucleotide variant not specified [RCV004477671] Chr10:11481794 [GRCh38]
Chr10:11523793 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1126G>A (p.Glu376Lys) single nucleotide variant not specified [RCV004477672] Chr10:11463802 [GRCh38]
Chr10:11505801 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1396C>T (p.His466Tyr) single nucleotide variant not specified [RCV004477675] Chr10:11463532 [GRCh38]
Chr10:11505531 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1469C>T (p.Pro490Leu) single nucleotide variant not specified [RCV004477676] Chr10:11463459 [GRCh38]
Chr10:11505458 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1526G>T (p.Arg509Leu) single nucleotide variant not specified [RCV004477677] Chr10:11463402 [GRCh38]
Chr10:11505401 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1598A>G (p.Lys533Arg) single nucleotide variant not specified [RCV004477678] Chr10:11463330 [GRCh38]
Chr10:11505329 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1613A>T (p.Asp538Val) single nucleotide variant not specified [RCV004477679] Chr10:11463315 [GRCh38]
Chr10:11505314 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1724A>G (p.Gln575Arg) single nucleotide variant not specified [RCV004477680] Chr10:11463204 [GRCh38]
Chr10:11505203 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.1822C>G (p.Gln608Glu) single nucleotide variant not specified [RCV004477681] Chr10:11463106 [GRCh38]
Chr10:11505105 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2044G>C (p.Glu682Gln) single nucleotide variant not specified [RCV004477682] Chr10:11462884 [GRCh38]
Chr10:11504883 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.170C>G (p.Pro57Arg) single nucleotide variant not specified [RCV004477684] Chr10:11518560 [GRCh38]
Chr10:11560559 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.2326G>A (p.Gly776Ser) single nucleotide variant not specified [RCV004477685] Chr10:11462602 [GRCh38]
Chr10:11504601 [GRCh37]
Chr10:10p14		 uncertain significance
NM_014688.5(USP6NL):c.838C>G (p.Leu280Val) single nucleotide variant not specified [RCV004477687] Chr10:11485058 [GRCh38]
Chr10:11527057 [GRCh37]
Chr10:10p14		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4806
Count of miRNA genes:1260
Interacting mature miRNAs:1611
Transcripts:ENST00000277575, ENST00000379237, ENST00000606752, ENST00000609104, ENST00000609853
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
STS-D13644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,502,844 - 11,503,094UniSTSGRCh37
Build 361011,542,850 - 11,543,100RGDNCBI36
Celera1011,431,464 - 11,431,714RGD
Cytogenetic Map10p13UniSTS
HuRef1011,421,487 - 11,421,737UniSTS
GeneMap99-GB4 RH Map1085.64UniSTS
RH80200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,606,136 - 11,606,214UniSTSGRCh37
Build 361011,646,142 - 11,646,220RGDNCBI36
Celera1011,534,761 - 11,534,839RGD
Cytogenetic Map10p13UniSTS
HuRef1011,524,522 - 11,524,600UniSTS
GeneMap99-GB4 RH Map1084.06UniSTS
RH122887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,535,714 - 11,536,022UniSTSGRCh37
Build 361011,575,720 - 11,576,028RGDNCBI36
Celera1011,464,334 - 11,464,642RGD
Cytogenetic Map10p13UniSTS
HuRef1011,454,239 - 11,454,547UniSTS
TNG Radiation Hybrid Map106088.0UniSTS
D10S2183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,503,431 - 11,503,541UniSTSGRCh37
Build 361011,543,437 - 11,543,547RGDNCBI36
Celera1011,432,051 - 11,432,161RGD
Cytogenetic Map10p13UniSTS
HuRef1011,422,078 - 11,422,188UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH46310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,609,475 - 11,609,628UniSTSGRCh37
Build 361011,649,481 - 11,649,634RGDNCBI36
Celera1011,538,100 - 11,538,253RGD
Cytogenetic Map10p13UniSTS
HuRef1011,527,861 - 11,528,014UniSTS
GeneMap99-GB4 RH Map1084.06UniSTS
NCBI RH Map10181.1UniSTS
RH48374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,504,478 - 11,504,626UniSTSGRCh37
Build 361011,544,484 - 11,544,632RGDNCBI36
Celera1011,433,098 - 11,433,246RGD
Cytogenetic Map10p13UniSTS
HuRef1011,423,125 - 11,423,273UniSTS
GeneMap99-GB4 RH Map1085.43UniSTS
RH25258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,503,496 - 11,503,671UniSTSGRCh37
Build 361011,543,502 - 11,543,677RGDNCBI36
Celera1011,432,116 - 11,432,291RGD
Cytogenetic Map10p13UniSTS
HuRef1011,422,143 - 11,422,318UniSTS
GeneMap99-GB4 RH Map1085.22UniSTS
SHGC-30535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,502,815 - 11,502,916UniSTSGRCh37
Build 361011,542,821 - 11,542,922RGDNCBI36
Celera1011,431,435 - 11,431,536RGD
Cytogenetic Map10p13UniSTS
HuRef1011,421,458 - 11,421,559UniSTS
GeneMap99-GB4 RH Map1085.43UniSTS
Whitehead-RH Map1082.2UniSTS
GeneMap99-G3 RH Map10542.0UniSTS
USP6NL__5055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371011,502,423 - 11,503,342UniSTSGRCh37
Build 361011,542,429 - 11,543,348RGDNCBI36
Celera1011,431,043 - 11,431,962RGD
HuRef1011,421,069 - 11,421,989UniSTS


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 118 7 25 23 531 21 489 22 302 35 413 77 9 263 1
Low 2319 2587 1700 600 1136 444 3541 1734 3390 380 1042 1534 165 1 1204 2199 4 1
Below cutoff 2 395 1 1 283 326 441 42 4 4 2 326 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA741061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF121539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY012494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000277575   ⟹   ENSP00000277575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1011,460,510 - 11,532,275 (-)Ensembl
RefSeq Acc Id: ENST00000379237   ⟹   ENSP00000368539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1011,460,510 - 11,573,737 (-)Ensembl
RefSeq Acc Id: ENST00000443016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1011,563,187 - 11,573,496 (-)Ensembl
RefSeq Acc Id: ENST00000606752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1011,564,127 - 11,611,666 (-)Ensembl
RefSeq Acc Id: ENST00000609104   ⟹   ENSP00000476462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1011,460,510 - 11,611,650 (-)Ensembl
RefSeq Acc Id: ENST00000609853   ⟹   ENSP00000476748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1011,564,127 - 11,573,841 (-)Ensembl
RefSeq Acc Id: NM_001080491   ⟹   NP_001073960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,532,427 (-)NCBI
GRCh371011,502,509 - 11,653,679 (-)RGD
Build 361011,542,515 - 11,614,280 (-)NCBI Archive
Celera1011,431,129 - 11,582,310 (-)RGD
HuRef1011,421,155 - 11,572,059 (-)ENTREZGENE
CHM1_11011,502,284 - 11,574,227 (-)NCBI
T2T-CHM13v2.01011,471,921 - 11,543,848 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001391959   ⟹   NP_001378888
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,576,088 (-)NCBI
T2T-CHM13v2.01011,471,921 - 11,587,538 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001391960   ⟹   NP_001378889
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,611,650 (-)NCBI
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001391961   ⟹   NP_001378890
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,611,650 (-)NCBI
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014688   ⟹   NP_055503
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,611,650 (-)NCBI
GRCh371011,502,509 - 11,653,679 (-)RGD
Celera1011,431,129 - 11,582,310 (-)RGD
HuRef1011,421,155 - 11,572,059 (-)ENTREZGENE
CHM1_11011,502,284 - 11,653,742 (-)NCBI
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)NCBI
Sequence:
RefSeq Acc Id: NR_125732
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,564,124 - 11,611,650 (-)NCBI
CHM1_11011,606,079 - 11,653,742 (-)NCBI
T2T-CHM13v2.01011,575,578 - 11,623,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717542   ⟹   XP_006717605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,611,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519762   ⟹   XP_011518064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,602,194 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519763   ⟹   XP_011518065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,494,759 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016971   ⟹   XP_016872460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,611,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448263   ⟹   XP_024304031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,611,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426036   ⟹   XP_047281992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,605,600 (-)NCBI
RefSeq Acc Id: XM_047426037   ⟹   XP_047281993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,602,189 (-)NCBI
RefSeq Acc Id: XM_047426038   ⟹   XP_047281994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,460,510 - 11,495,140 (-)NCBI
RefSeq Acc Id: XM_054367232   ⟹   XP_054223207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,617,045 (-)NCBI
RefSeq Acc Id: XM_054367233   ⟹   XP_054223208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)NCBI
RefSeq Acc Id: XM_054367234   ⟹   XP_054223209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,613,639 (-)NCBI
RefSeq Acc Id: XM_054367235   ⟹   XP_054223210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,617,044 (-)NCBI
RefSeq Acc Id: XM_054367236   ⟹   XP_054223211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,613,634 (-)NCBI
RefSeq Acc Id: XM_054367237   ⟹   XP_054223212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,623,090 (-)NCBI
RefSeq Acc Id: XM_054367238   ⟹   XP_054223213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,506,174 (-)NCBI
RefSeq Acc Id: XM_054367239   ⟹   XP_054223214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01011,471,921 - 11,506,555 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001073960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378888 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378889 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378890 (Get FASTA)   NCBI Sequence Viewer  
  NP_055503 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717605 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518064 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518065 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872460 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304031 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281992 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281993 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281994 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223214 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10351 (Get FASTA)   NCBI Sequence Viewer  
  AAH42943 (Get FASTA)   NCBI Sequence Viewer  
  BAA02807 (Get FASTA)   NCBI Sequence Viewer  
  BAF85633 (Get FASTA)   NCBI Sequence Viewer  
  BAH16659 (Get FASTA)   NCBI Sequence Viewer  
  EAW86344 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000277575
  ENSP00000277575.5
  ENSP00000368539
  ENSP00000368539.2
  ENSP00000476462
  ENSP00000476462.1
  ENSP00000476748.1
GenBank Protein Q92738 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055503   ⟸   NM_014688
- Peptide Label: isoform 1
- UniProtKB: Q5VV10 (UniProtKB/Swiss-Prot),   Q15400 (UniProtKB/Swiss-Prot),   A8KA79 (UniProtKB/Swiss-Prot),   Q7L0K9 (UniProtKB/Swiss-Prot),   Q92738 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001073960   ⟸   NM_001080491
- Peptide Label: isoform 2
- UniProtKB: Q92738 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717605   ⟸   XM_006717542
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011518064   ⟸   XM_011519762
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011518065   ⟸   XM_011519763
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016872460   ⟸   XM_017016971
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024304031   ⟸   XM_024448263
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000476462   ⟸   ENST00000609104
RefSeq Acc Id: ENSP00000476748   ⟸   ENST00000609853
RefSeq Acc Id: ENSP00000368539   ⟸   ENST00000379237
RefSeq Acc Id: ENSP00000277575   ⟸   ENST00000277575
RefSeq Acc Id: NP_001378889   ⟸   NM_001391960
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001378890   ⟸   NM_001391961
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001378888   ⟸   NM_001391959
- Peptide Label: isoform 3
- UniProtKB: X6RAB3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281992   ⟸   XM_047426036
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281993   ⟸   XM_047426037
- Peptide Label: isoform X3
- UniProtKB: Q92738 (UniProtKB/Swiss-Prot),   Q5VV10 (UniProtKB/Swiss-Prot),   Q15400 (UniProtKB/Swiss-Prot),   A8KA79 (UniProtKB/Swiss-Prot),   Q7L0K9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281994   ⟸   XM_047426038
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054223212   ⟸   XM_054367237
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223208   ⟸   XM_054367233
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223207   ⟸   XM_054367232
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223210   ⟸   XM_054367235
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054223209   ⟸   XM_054367234
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223211   ⟸   XM_054367236
- Peptide Label: isoform X3
- UniProtKB: Q92738 (UniProtKB/Swiss-Prot),   Q5VV10 (UniProtKB/Swiss-Prot),   Q15400 (UniProtKB/Swiss-Prot),   A8KA79 (UniProtKB/Swiss-Prot),   Q7L0K9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054223214   ⟸   XM_054367239
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054223213   ⟸   XM_054367238
- Peptide Label: isoform X5
Protein Domains
Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92738-F1-model_v2 AlphaFold Q92738 1-828 view protein structure

Promoters
RGD ID:7216973
Promoter ID:EPDNEW_H14232
Type:initiation region
Name:USP6NL_1
Description:USP6 N-terminal like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14233  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,611,584 - 11,611,644EPDNEW
RGD ID:7216975
Promoter ID:EPDNEW_H14233
Type:initiation region
Name:USP6NL_2
Description:USP6 N-terminal like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14232  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381011,611,781 - 11,611,841EPDNEW
RGD ID:6788354
Promoter ID:HG_KWN:8572
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001080491
Position:
Human AssemblyChrPosition (strand)Source
Build 361011,614,224 - 11,614,724 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16858 AgrOrtholog
COSMIC USP6NL COSMIC
Ensembl Genes ENSG00000148429 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000277575 ENTREZGENE
  ENST00000277575.5 UniProtKB/Swiss-Prot
  ENST00000379237 ENTREZGENE
  ENST00000379237.6 UniProtKB/TrEMBL
  ENST00000606752 ENTREZGENE
  ENST00000609104 ENTREZGENE
  ENST00000609104.6 UniProtKB/Swiss-Prot
  ENST00000609853.1 UniProtKB/TrEMBL
Gene3D-CATH putative rabgap domain of human tbc1 domain family member 14 like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148429 GTEx
HGNC ID HGNC:16858 ENTREZGENE
Human Proteome Map USP6NL Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9712 UniProtKB/Swiss-Prot
NCBI Gene 9712 ENTREZGENE
OMIM 605405 OMIM
PANTHER RAB GTPASE-ACTIVATING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB GTPASE-ACTIVATING PROTEIN 1-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134955568 PharmGKB
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KA79 ENTREZGENE
  Q15400 ENTREZGENE
  Q5VV10 ENTREZGENE
  Q7L0K9 ENTREZGENE
  Q92738 ENTREZGENE
  Q96FW8_HUMAN UniProtKB/TrEMBL
  US6NL_HUMAN UniProtKB/Swiss-Prot
  V9GYH2_HUMAN UniProtKB/TrEMBL
  X6RAB3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8KA79 UniProtKB/Swiss-Prot
  Q15400 UniProtKB/Swiss-Prot
  Q5VV10 UniProtKB/Swiss-Prot
  Q7L0K9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-01 USP6NL  USP6 N-terminal like  USP6NL-IT1  USP6NL intronic transcript 1 (non-protein coding)  Data merged from RGD:7177545 737654 PROVISIONAL