COPS9 (COP9 signalosome subunit 9) - Rat Genome Database

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Gene: COPS9 (COP9 signalosome subunit 9) Homo sapiens
Analyze
Symbol: COPS9
Name: COP9 signalosome subunit 9
RGD ID: 1601821
HGNC Page HGNC:21314
Description: Involved in several processes, including cellular response to UV; cytoplasmic sequestering of protein; and negative regulation of protein neddylation. Located in COP9 signalosome; cytoplasm; and nucleoplasm. Part of chromatin.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: COP9 signalosome complex subunit 9; CSNAP; helicase/primase complex protein; hypothetical protein LOC150678; myeloma overexpressed 2; myeloma-overexpressed gene 2 protein; MYEOV2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100288978  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382240,126,548 - 240,136,347 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2240,126,563 - 240,136,807 (-)EnsemblGRCh38hg38GRCh38
GRCh372241,065,980 - 241,075,764 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,714,653 - 240,724,437 (-)NCBINCBI36Build 36hg18NCBI36
Celera2234,739,018 - 234,748,802 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2232,823,878 - 232,833,679 (-)NCBIHuRef
CHM1_12241,071,605 - 241,081,395 (-)NCBICHM1_1
T2T-CHM13v2.02240,619,322 - 240,629,121 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA)
COP9 signalosome  (IDA,IEA)
cytoplasm  (IDA,IEA)
nucleoplasm  (IDA,IEA)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15146197   PMID:19615732   PMID:21145461   PMID:21873635   PMID:22939629   PMID:23776465   PMID:25737280   PMID:26186194   PMID:26456823   PMID:28514442  
PMID:29089422   PMID:30349055   PMID:31367012   PMID:31973889   PMID:32034103   PMID:32296183   PMID:32513696   PMID:33961781   PMID:34272906   PMID:35271311   PMID:35563538  


Genomics

Comparative Map Data
COPS9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382240,126,548 - 240,136,347 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2240,126,563 - 240,136,807 (-)EnsemblGRCh38hg38GRCh38
GRCh372241,065,980 - 241,075,764 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,714,653 - 240,724,437 (-)NCBINCBI36Build 36hg18NCBI36
Celera2234,739,018 - 234,748,802 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2232,823,878 - 232,833,679 (-)NCBIHuRef
CHM1_12241,071,605 - 241,081,395 (-)NCBICHM1_1
T2T-CHM13v2.02240,619,322 - 240,629,121 (-)NCBIT2T-CHM13v2.0
Cops9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39192,564,867 - 92,569,707 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl192,564,867 - 92,569,707 (-)EnsemblGRCm39 Ensembl
GRCm38192,637,145 - 92,641,985 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl192,637,145 - 92,641,985 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,533,722 - 94,538,562 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,467,551 - 94,472,391 (-)NCBIMGSCv36mm8
Celera195,581,052 - 95,585,891 (-)NCBICelera
Cytogenetic Map1DNCBI
cM Map146.55NCBI
Cops9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89100,657,276 - 100,662,206 (-)NCBIGRCr8
mRatBN7.2993,209,843 - 93,214,774 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl993,209,843 - 93,213,317 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9101,645,777 - 101,650,703 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09106,781,547 - 106,786,473 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09105,137,697 - 105,142,623 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0999,813,332 - 99,818,262 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl999,813,332 - 99,818,262 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0999,478,497 - 99,483,427 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4991,858,160 - 91,863,090 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera990,746,832 - 90,751,762 (-)NCBICelera
Cytogenetic Map9q36NCBI
Cops9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555421,131,110 - 1,135,871 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555421,131,110 - 1,135,871 (+)NCBIChiLan1.0ChiLan1.0
COPS9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213142,780,324 - 142,787,110 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B142,795,290 - 142,802,076 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B127,373,916 - 127,379,543 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B246,186,565 - 246,196,506 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B246,186,565 - 246,196,471 (-)Ensemblpanpan1.1panPan2
COPS9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.02550,750,815 - 50,754,214 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12550,592,674 - 50,596,080 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02550,338,835 - 50,342,222 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02550,616,326 - 50,619,735 (-)NCBIUU_Cfam_GSD_1.0
Cops9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303191,923,586 - 191,927,491 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367451,291,702 - 1,295,834 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COPS9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,260,478 - 139,264,211 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,260,471 - 139,264,252 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215153,946,107 - 153,950,286 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COPS9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110126,163,883 - 126,169,915 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604073,237,545 - 73,243,101 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cops9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248474,679,059 - 4,683,969 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248474,679,059 - 4,684,041 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COPS9
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3 copy number gain See cases [RCV000052978] Chr2:237813997..240410487 [GRCh38]
Chr2:238722640..241349904 [GRCh37]
Chr2:238387379..240998577 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
NM_138336.1(MYEOV2):c.572C>T (p.Ser191Phe) single nucleotide variant Malignant melanoma [RCV000065491] Chr2:240126750 [GRCh38]
Chr2:241066167 [GRCh37]
Chr2:240714840 [NCBI36]
Chr2:2q37.3		 not provided
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239860877-241385960) copy number loss Poland anomaly [RCV001291955] Chr2:239860877..241385960 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.12:g.(?_239048168)_(240879119_?)del deletion Primary hyperoxaluria, type I [RCV000186424] Chr2:239048168..240879119 [GRCh38]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240556675-241180768)x3 copy number gain See cases [RCV000511260] Chr2:240556675..241180768 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1 copy number loss not provided [RCV001834263] Chr2:239436367..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3 copy number gain not provided [RCV001827620] Chr2:240208466..243199373 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1A [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1 copy number loss not provided [RCV002293050] Chr2:239229304..243199373 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_138336.1(COPS9):c.380A>G (p.Glu127Gly) single nucleotide variant not specified [RCV004192843] Chr2:240129912 [GRCh38]
Chr2:241069329 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 copy number loss not provided [RCV003485294] Chr2:238460671..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 copy number loss See cases [RCV004442765] Chr2:235267074..242782258 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1 copy number loss See cases [RCV004442769] Chr2:239671606..242782258 [GRCh37]
Chr2:2q37.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:512
Count of miRNA genes:358
Interacting mature miRNAs:374
Transcripts:ENST00000307266, ENST00000403160, ENST00000489698, ENST00000491765, ENST00000607357
Prediction methods:Microtar, Miranda, 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
RH92274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,070,267 - 241,070,407UniSTSGRCh37
Build 362240,718,940 - 240,719,080RGDNCBI36
Celera2234,743,305 - 234,743,445RGD
Cytogenetic Map2q37.3UniSTS
HuRef2232,828,165 - 232,828,305UniSTS
GeneMap99-GB4 RH Map2743.33UniSTS


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
Medium 2426 2381 1524 427 1414 268 4348 2116 3705 411 1447 1606 171 1203 2781 4
Low 6 603 199 195 534 196 7 77 3 7 1 2 1 7
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000307266   ⟹   ENSP00000304147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,126,563 - 240,136,347 (-)Ensembl
RefSeq Acc Id: ENST00000403160   ⟹   ENSP00000383946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,133,983 - 240,136,807 (-)Ensembl
RefSeq Acc Id: ENST00000489698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,130,828 - 240,136,176 (-)Ensembl
RefSeq Acc Id: ENST00000491765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,130,828 - 240,134,290 (-)Ensembl
RefSeq Acc Id: ENST00000607357   ⟹   ENSP00000475979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2240,130,828 - 240,136,305 (-)Ensembl
RefSeq Acc Id: NM_001163424   ⟹   NP_001156896
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,130,828 - 240,136,305 (-)NCBI
GRCh372241,065,980 - 241,075,764 (-)RGD
Celera2234,739,018 - 234,748,802 (-)RGD
HuRef2232,823,878 - 232,833,679 (-)RGD
CHM1_12241,075,865 - 241,081,378 (-)NCBI
T2T-CHM13v2.02240,623,602 - 240,629,079 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138336   ⟹   NP_612209
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,126,563 - 240,136,347 (-)NCBI
GRCh372241,065,980 - 241,075,764 (-)RGD
Build 362240,714,653 - 240,724,437 (-)NCBI Archive
Celera2234,739,018 - 234,748,802 (-)RGD
HuRef2232,823,878 - 232,833,679 (-)RGD
CHM1_12241,071,605 - 241,081,395 (-)NCBI
T2T-CHM13v2.02240,619,337 - 240,629,121 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003411   ⟹   XP_016858900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,126,548 - 240,136,305 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054340658   ⟹   XP_054196633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02240,619,322 - 240,629,079 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_612209   ⟸   NM_138336
- Peptide Label: isoform 1
- UniProtKB: Q8WXC6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001156896   ⟸   NM_001163424
- Peptide Label: isoform 2
- UniProtKB: Q8N110 (UniProtKB/Swiss-Prot),   Q8WXC6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016858900   ⟸   XM_017003411
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000304147   ⟸   ENST00000307266
RefSeq Acc Id: ENSP00000383946   ⟸   ENST00000403160
RefSeq Acc Id: ENSP00000475979   ⟸   ENST00000607357
RefSeq Acc Id: XP_054196633   ⟸   XM_054340658
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WXC6-F1-model_v2 AlphaFold Q8WXC6 1-57 view protein structure

Promoters
RGD ID:6863294
Promoter ID:EPDNEW_H4812
Type:initiation region
Name:MYEOV2_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382240,136,303 - 240,136,363EPDNEW
RGD ID:6797319
Promoter ID:HG_KWN:38073
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000403160,   NM_138336,   OTTHUMT00000326051
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,724,196 - 240,724,696 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21314 AgrOrtholog
COSMIC COPS9 COSMIC
Ensembl Genes ENSG00000172428 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307266 ENTREZGENE
  ENST00000307266.7 UniProtKB/Swiss-Prot
  ENST00000403160.4 UniProtKB/TrEMBL
  ENST00000607357 ENTREZGENE
  ENST00000607357.2 UniProtKB/Swiss-Prot
GTEx ENSG00000172428 GTEx
HGNC ID HGNC:21314 ENTREZGENE
Human Proteome Map COPS9 Human Proteome Map
InterPro CSN9_metazoa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:150678 UniProtKB/Swiss-Prot
NCBI Gene 150678 ENTREZGENE
OMIM 619349 OMIM
PANTHER COP9 SIGNALOSOME COMPLEX SUBUNIT 9 UniProtKB/Swiss-Prot
  COP9 SIGNALOSOME COMPLEX SUBUNIT 9 UniProtKB/TrEMBL
  PTHR28562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MYEOV2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671302 PharmGKB
UniProt CSN9_HUMAN UniProtKB/Swiss-Prot
  J3QT29_HUMAN UniProtKB/TrEMBL
  Q8N110 ENTREZGENE
  Q8WXC6 ENTREZGENE
UniProt Secondary Q8N110 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-26 COPS9  COP9 signalosome subunit 9  MYEOV2  myeloma overexpressed 2  Symbol and/or name change 5135510 APPROVED