NCBP1 (nuclear cap binding protein subunit 1) - Rat Genome Database

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Gene: NCBP1 (nuclear cap binding protein subunit 1) Homo sapiens
Analyze
Symbol: NCBP1
Name: nuclear cap binding protein subunit 1
RGD ID: 1319058
HGNC Page HGNC:7658
Description: Enables RNA 7-methylguanosine cap binding activity and molecular adaptor activity. Involved in several processes, including RNA export from nucleus; mRNA metabolic process; and positive regulation of mRNA processing. Located in cytosol; mitochondrion; and nucleoplasm. Part of cytoplasm; nuclear cap binding activity complex; and ribonucleoprotein complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 80 kDa nuclear cap-binding protein; CBP80; MGC2087; NCBP; NCBP 80 kDa subunit; nuclear cap binding protein subunit 1, 80kD; nuclear cap binding protein subunit 1, 80kDa; nuclear cap-binding protein subunit 1; Sto1
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
GRCh38997,633,821 - 97,673,748 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl997,633,668 - 97,673,748 (+)EnsemblGRCh38hg38GRCh38
GRCh379100,396,103 - 100,436,030 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36999,435,526 - 99,475,851 (+)NCBINCBI36Build 36hg18NCBI36
Build 34997,475,462 - 97,513,466NCBI
Celera970,909,962 - 70,950,264 (+)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef969,996,714 - 70,037,070 (+)NCBIHuRef
CHM1_19100,542,138 - 100,582,465 (+)NCBICHM1_1
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
clozapine  (EXP)
cocaine  (ISO)
coumestrol  (EXP)
Cuprizon  (EXP)
DDE  (EXP)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gemcitabine  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
mercury dichloride  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
nefazodone  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA,NAS)
cytosol  (IDA,TAS)
mitochondrion  (IDA)
nuclear cap binding complex  (IBA,IDA,IEA,IPI,ISO)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)
ribonucleoprotein complex  (IDA)
RNA cap binding complex  (IMP,TAS)

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cap-binding complex (CBC). Gonatopoulos-Pournatzis T and Cowling VH, Biochem J. 2014 Jan 15;457(2):231-42. doi: 10.1042/BJ20131214.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2148205   PMID:7478990   PMID:7651522   PMID:7937105   PMID:8069914   PMID:8812508   PMID:9049306   PMID:9111328   PMID:9342333   PMID:9409616   PMID:9933612   PMID:10786834  
PMID:10973943   PMID:11333016   PMID:11340157   PMID:11545740   PMID:11551508   PMID:12093754   PMID:12226669   PMID:12374755   PMID:12434151   PMID:12477932   PMID:12676794   PMID:15040442  
PMID:15130578   PMID:15146197   PMID:15164053   PMID:15361857   PMID:15489334   PMID:15574332   PMID:15680326   PMID:15901492   PMID:16156639   PMID:16186820   PMID:16189514   PMID:16317009  
PMID:16344560   PMID:17081983   PMID:17190602   PMID:17289661   PMID:17332742   PMID:17468741   PMID:17499042   PMID:17643375   PMID:17873884   PMID:17932509   PMID:18369367   PMID:18423201  
PMID:18974867   PMID:19026660   PMID:19262567   PMID:19417104   PMID:19608861   PMID:19632182   PMID:19648179   PMID:19668212   PMID:19738201   PMID:20020773   PMID:20350937   PMID:20371770  
PMID:20379136   PMID:20467437   PMID:20508642   PMID:20691628   PMID:21145461   PMID:21326824   PMID:21402597   PMID:21447822   PMID:21536667   PMID:21873635   PMID:22365833   PMID:22446626  
PMID:22493286   PMID:22586326   PMID:22681889   PMID:22863883   PMID:22939629   PMID:22952844   PMID:22990118   PMID:23222130   PMID:23537643   PMID:23665581   PMID:23788676   PMID:23793891  
PMID:23825951   PMID:24457600   PMID:24705354   PMID:24711643   PMID:24778252   PMID:24981860   PMID:25049393   PMID:25147182   PMID:25220460   PMID:25281560   PMID:25578728   PMID:25693804  
PMID:25737280   PMID:25921289   PMID:26186194   PMID:26264872   PMID:26344197   PMID:26382858   PMID:26496610   PMID:26511642   PMID:26618866   PMID:26641092   PMID:26673895   PMID:26725010  
PMID:27025967   PMID:27609421   PMID:27684187   PMID:27773672   PMID:27871484   PMID:27880917   PMID:28077445   PMID:28118078   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28977666  
PMID:29101316   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29378950   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29564676   PMID:29568061   PMID:29676528  
PMID:29721183   PMID:29802200   PMID:29845934   PMID:29884807   PMID:29997244   PMID:30021884   PMID:30033366   PMID:30196744   PMID:30209976   PMID:30232453   PMID:30239828   PMID:30463901  
PMID:30572598   PMID:30575818   PMID:30809309   PMID:30833792   PMID:30884312   PMID:30948266   PMID:31076518   PMID:31091453   PMID:31353912   PMID:31363146   PMID:31448526   PMID:31467278  
PMID:31553912   PMID:31586073   PMID:31685992   PMID:31822558   PMID:31871319   PMID:31950832   PMID:31980649   PMID:32296183   PMID:32416067   PMID:32687490   PMID:32707033   PMID:32780723  
PMID:32807901   PMID:32814053   PMID:32960270   PMID:32989256   PMID:33144569   PMID:33226137   PMID:33239621   PMID:33306668   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34091597  
PMID:34226595   PMID:34232997   PMID:34244482   PMID:34349018   PMID:34373451   PMID:34564892   PMID:34662580   PMID:34709727   PMID:35013218   PMID:35253629   PMID:35271311   PMID:35337019  
PMID:35509820   PMID:35575683   PMID:35803934   PMID:35831314   PMID:35850772   PMID:35914814   PMID:35915203   PMID:35944360   PMID:35973989   PMID:36089195   PMID:36114006   PMID:36168627  
PMID:36180527   PMID:36215168   PMID:36244648   PMID:36526897   PMID:36597993   PMID:36880596   PMID:37105989   PMID:37117180   PMID:37223481   PMID:37314216   PMID:37317656   PMID:37398436  
PMID:37827155   PMID:38071502   PMID:38113892   PMID:38270169   PMID:38697112   PMID:39147351  


Genomics

Comparative Map Data
NCBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38997,633,821 - 97,673,748 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl997,633,668 - 97,673,748 (+)EnsemblGRCh38hg38GRCh38
GRCh379100,396,103 - 100,436,030 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36999,435,526 - 99,475,851 (+)NCBINCBI36Build 36hg18NCBI36
Build 34997,475,462 - 97,513,466NCBI
Celera970,909,962 - 70,950,264 (+)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef969,996,714 - 70,037,070 (+)NCBIHuRef
CHM1_19100,542,138 - 100,582,465 (+)NCBICHM1_1
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBIT2T-CHM13v2.0
Ncbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39446,138,732 - 46,172,403 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl446,138,613 - 46,172,403 (+)EnsemblGRCm39 Ensembl
GRCm38446,138,511 - 46,172,403 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl446,138,613 - 46,172,403 (+)EnsemblGRCm38mm10GRCm38
MGSCv37446,151,383 - 46,185,275 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36446,159,622 - 46,193,157 (+)NCBIMGSCv36mm8
Celera446,160,651 - 46,194,542 (+)NCBICelera
Cytogenetic Map4B1NCBI
cM Map424.49NCBI
Ncbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8565,211,632 - 65,244,532 (+)NCBIGRCr8
mRatBN7.2560,416,023 - 60,449,004 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl560,415,982 - 60,449,089 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx562,388,411 - 62,420,896 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0564,207,914 - 64,240,399 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0564,177,167 - 64,209,652 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0561,734,118 - 61,767,098 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl561,734,118 - 61,766,481 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0566,250,579 - 66,283,560 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4562,691,068 - 62,723,436 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1562,691,246 - 62,723,612 (+)NCBI
Celera558,976,747 - 59,009,113 (+)NCBICelera
Cytogenetic Map5q22NCBI
Ncbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541927,778,300 - 27,819,878 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541927,778,300 - 27,819,878 (-)NCBIChiLan1.0ChiLan1.0
NCBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21141,783,460 - 41,823,887 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1941,785,715 - 41,826,532 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0968,724,176 - 68,764,423 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1996,845,422 - 96,885,624 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl996,845,422 - 96,885,624 (+)Ensemblpanpan1.1panPan2
NCBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11154,938,250 - 54,974,536 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1154,938,372 - 54,974,547 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1153,372,453 - 53,408,740 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01156,050,831 - 56,087,132 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1156,050,630 - 56,087,132 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11154,547,195 - 54,583,482 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01154,577,067 - 54,613,371 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01155,273,732 - 55,310,040 (+)NCBIUU_Cfam_GSD_1.0
Ncbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947169,882,087 - 169,917,455 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365246,429,185 - 6,465,035 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365246,429,735 - 6,465,035 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1239,492,721 - 239,535,825 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11239,492,573 - 239,543,925 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21267,580,587 - 267,659,128 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NCBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11241,736,063 - 41,776,178 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1241,738,579 - 41,776,509 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603838,789,120 - 38,829,181 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ncbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248253,164,700 - 3,206,241 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248253,166,895 - 3,206,444 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NCBP1
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3 copy number gain See cases [RCV000053773] Chr9:92561720..98122580 [GRCh38]
Chr9:95324002..100884862 [GRCh37]
Chr9:94363823..99924683 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002486.4(NCBP1):c.2125C>T (p.Leu709Phe) single nucleotide variant Malignant melanoma [RCV000068761] Chr9:97668954 [GRCh38]
Chr9:100431236 [GRCh37]
Chr9:99471057 [NCBI36]
Chr9:9q22.33		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1 copy number loss See cases [RCV000135303] Chr9:94713892..98121186 [GRCh38]
Chr9:97476174..100883468 [GRCh37]
Chr9:96515995..99923289 [NCBI36]
Chr9:9q22.32-22.33		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 copy number gain See cases [RCV000510672] Chr9:97553176..102919383 [GRCh37]
Chr9:9q22.32-31.1		 likely pathogenic
NM_002486.5(NCBP1):c.508G>T (p.Val170Leu) single nucleotide variant not specified [RCV004313292] Chr9:97645629 [GRCh38]
Chr9:100407911 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.71C>T (p.Ala24Val) single nucleotide variant not specified [RCV004316503] Chr9:97640830 [GRCh38]
Chr9:100403112 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q22.33(chr9:100310710-100535203)x3 copy number gain not provided [RCV000848404] Chr9:100310710..100535203 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q22.33(chr9:100306203-100528811)x3 copy number gain not provided [RCV001006248] Chr9:100306203..100528811 [GRCh37]
Chr9:9q22.33		 likely benign
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
NC_000009.12:g.(?_97428446)_(98796511_?)dup duplication Epileptic encephalopathy [RCV001033232] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33		 uncertain significance
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1		 pathogenic
NC_000009.11:g.(?_100190728)_(101558793_?)dup duplication Epileptic encephalopathy [RCV001308947] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_002486.5(NCBP1):c.373G>A (p.Val125Met) single nucleotide variant Mycotic Aneurysm, Intracranial [RCV001731002]|not provided [RCV004692712] Chr9:97643352 [GRCh38]
Chr9:100405634 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_100190748)_(103062956_?)del deletion Nephronophthisis [RCV001959180] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1		 pathogenic
NC_000009.11:g.(?_100190748)_(103062956_?)dup duplication ALG2-congenital disorder of glycosylation [RCV003113550]|Familial thoracic aortic aneurysm and aortic dissection [RCV003113551] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1		 uncertain significance
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_002486.5(NCBP1):c.1888C>T (p.Arg630Cys) single nucleotide variant not specified [RCV004230994] Chr9:97664430 [GRCh38]
Chr9:100426712 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1318G>T (p.Asp440Tyr) single nucleotide variant not specified [RCV004171995] Chr9:97656030 [GRCh38]
Chr9:100418312 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.454T>A (p.Phe152Ile) single nucleotide variant not specified [RCV004179741] Chr9:97645189 [GRCh38]
Chr9:100407471 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1732G>C (p.Glu578Gln) single nucleotide variant not specified [RCV004172162] Chr9:97662982 [GRCh38]
Chr9:100425264 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.601A>G (p.Ser201Gly) single nucleotide variant not specified [RCV004236650] Chr9:97645722 [GRCh38]
Chr9:100408004 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1658A>G (p.His553Arg) single nucleotide variant not specified [RCV004100494] Chr9:97662099 [GRCh38]
Chr9:100424381 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.2048G>A (p.Arg683Lys) single nucleotide variant not specified [RCV004179740] Chr9:97668877 [GRCh38]
Chr9:100431159 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.964A>G (p.Ile322Val) single nucleotide variant not specified [RCV004074993] Chr9:97650569 [GRCh38]
Chr9:100412851 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.947A>G (p.Glu316Gly) single nucleotide variant not specified [RCV004090663] Chr9:97650552 [GRCh38]
Chr9:100412834 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.386G>A (p.Arg129His) single nucleotide variant not specified [RCV004284794] Chr9:97645121 [GRCh38]
Chr9:100407403 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.2326C>A (p.Pro776Thr) single nucleotide variant not specified [RCV004251296] Chr9:97671152 [GRCh38]
Chr9:100433434 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.826C>T (p.His276Tyr) single nucleotide variant not specified [RCV004325962] Chr9:97648152 [GRCh38]
Chr9:100410434 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1423G>A (p.Ala475Thr) single nucleotide variant not specified [RCV004355737] Chr9:97658689 [GRCh38]
Chr9:100420971 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.2158A>G (p.Ile720Val) single nucleotide variant not specified [RCV004339517] Chr9:97669605 [GRCh38]
Chr9:100431887 [GRCh37]
Chr9:9q22.33		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_002486.5(NCBP1):c.9G>A (p.Arg3=) single nucleotide variant not provided [RCV004546017] Chr9:97633890 [GRCh38]
Chr9:100396172 [GRCh37]
Chr9:9q22.33		 benign
NM_002486.5(NCBP1):c.1202G>A (p.Arg401His) single nucleotide variant not specified [RCV004471076] Chr9:97654911 [GRCh38]
Chr9:100417193 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1817A>G (p.Asp606Gly) single nucleotide variant not specified [RCV004471092] Chr9:97664359 [GRCh38]
Chr9:100426641 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.2179C>G (p.Arg727Gly) single nucleotide variant not specified [RCV004471106] Chr9:97669626 [GRCh38]
Chr9:100431908 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.488A>G (p.Gln163Arg) single nucleotide variant not specified [RCV004641299] Chr9:97645223 [GRCh38]
Chr9:100407505 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.2015G>A (p.Arg672Gln) single nucleotide variant not specified [RCV004641298] Chr9:97666876 [GRCh38]
Chr9:100429158 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1360G>C (p.Glu454Gln) single nucleotide variant not specified [RCV004652482] Chr9:97656072 [GRCh38]
Chr9:100418354 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.1788C>A (p.Asn596Lys) single nucleotide variant not specified [RCV004652484] Chr9:97663038 [GRCh38]
Chr9:100425320 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_002486.5(NCBP1):c.421G>T (p.Ala141Ser) single nucleotide variant not specified [RCV004652485] Chr9:97645156 [GRCh38]
Chr9:100407438 [GRCh37]
Chr9:9q22.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1373
Count of miRNA genes:864
Interacting mature miRNAs:1006
Transcripts:ENST00000375130, ENST00000375147, ENST00000478100, ENST00000491445
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406956848GWAS605824_Hmetabolite measurement QTL GWAS605824 (human)3e-09metabolite measurement99765980097659801Human

Markers in Region
RH71150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,416,771 - 100,416,899UniSTSGRCh37
Build 36999,456,592 - 99,456,720RGDNCBI36
Celera970,931,006 - 70,931,134RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,017,811 - 70,017,939UniSTS
GeneMap99-GB4 RH Map9312.72UniSTS
NCBI RH Map9814.5UniSTS
SHGC-36266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,431,252 - 100,431,358UniSTSGRCh37
Build 36999,471,073 - 99,471,179RGDNCBI36
Celera970,945,486 - 70,945,592RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,032,292 - 70,032,398UniSTS
Stanford-G3 RH Map93331.0UniSTS
GeneMap99-G3 RH Map93229.0UniSTS
SHGC-12947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,433,543 - 100,433,867UniSTSGRCh37
Build 36999,473,364 - 99,473,688RGDNCBI36
Celera970,947,777 - 70,948,101RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,034,583 - 70,034,907UniSTS
TNG Radiation Hybrid Map937264.0UniSTS
Whitehead-YAC Contig Map9 UniSTS
GeneMap99-G3 RH Map93234.0UniSTS
RH102496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,435,619 - 100,435,803UniSTSGRCh37
Build 36999,475,440 - 99,475,624RGDNCBI36
Celera970,949,853 - 70,950,037RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,036,659 - 70,036,843UniSTS
GeneMap99-GB4 RH Map9312.72UniSTS
RH122051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,432,978 - 100,433,272UniSTSGRCh37
Build 36999,472,799 - 99,473,093RGDNCBI36
Celera970,947,212 - 70,947,506RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,034,018 - 70,034,312UniSTS
TNG Radiation Hybrid Map937276.0UniSTS
SHGC-143489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,420,018 - 100,420,319UniSTSGRCh37
Build 36999,459,839 - 99,460,140RGDNCBI36
Celera970,934,253 - 70,934,553RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,021,058 - 70,021,358UniSTS
TNG Radiation Hybrid Map937232.0UniSTS
STS-AA011612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,420,235 - 100,420,462UniSTSGRCh37
Build 36999,460,056 - 99,460,283RGDNCBI36
Celera970,934,469 - 70,934,696RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,021,274 - 70,021,501UniSTS
GeneMap99-GB4 RH Map9314.98UniSTS
STS-AA035493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,431,250 - 100,431,447UniSTSGRCh37
Build 36999,471,071 - 99,471,268RGDNCBI36
Celera970,945,484 - 70,945,681RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,032,290 - 70,032,487UniSTS
GeneMap99-GB4 RH Map9313.34UniSTS
RH68376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,435,820 - 100,436,003UniSTSGRCh37
Build 36999,475,641 - 99,475,824RGDNCBI36
Celera970,950,054 - 70,950,237RGD
Cytogenetic Map9q34.1UniSTS
HuRef970,036,860 - 70,037,043UniSTS
GeneMap99-GB4 RH Map9312.72UniSTS
NCBI RH Map9814.5UniSTS
NCBP1_4020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,433,424 - 100,433,965UniSTSGRCh37
Build 36999,473,245 - 99,473,786RGDNCBI36
Celera970,947,658 - 70,948,199RGD
HuRef970,034,464 - 70,035,005UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001351504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN266899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D32002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA885233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB086376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375130   ⟹   ENSP00000364272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,666,763 - 97,670,076 (+)Ensembl
Ensembl Acc Id: ENST00000375147   ⟹   ENSP00000364289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,633,821 - 97,673,748 (+)Ensembl
Ensembl Acc Id: ENST00000478100   ⟹   ENSP00000433007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,633,668 - 97,650,562 (+)Ensembl
Ensembl Acc Id: ENST00000491445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,672,711 - 97,673,740 (+)Ensembl
Ensembl Acc Id: ENST00000629069   ⟹   ENSP00000487569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,633,882 - 97,645,141 (+)Ensembl
RefSeq Acc Id: NM_001351504   ⟹   NP_001338433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,821 - 97,673,748 (+)NCBI
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351505   ⟹   NP_001338434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,821 - 97,673,748 (+)NCBI
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351506   ⟹   NP_001338435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,821 - 97,673,748 (+)NCBI
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351507   ⟹   NP_001338436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,821 - 97,673,748 (+)NCBI
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002486   ⟹   NP_002477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,821 - 97,673,748 (+)NCBI
GRCh379100,395,705 - 100,436,030 (+)ENTREZGENE
GRCh379100,395,705 - 100,436,030 (+)NCBI
Build 36999,435,526 - 99,475,851 (+)NCBI Archive
HuRef969,996,714 - 70,037,070 (+)ENTREZGENE
CHM1_19100,542,138 - 100,582,465 (+)NCBI
T2T-CHM13v2.09109,805,762 - 109,845,689 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002477   ⟸   NM_002486
- Peptide Label: isoform 1
- UniProtKB: Q5T1V0 (UniProtKB/Swiss-Prot),   Q59G76 (UniProtKB/Swiss-Prot),   B2R718 (UniProtKB/Swiss-Prot),   Q5T7X2 (UniProtKB/Swiss-Prot),   Q09161 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001338433   ⟸   NM_001351504
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001338435   ⟸   NM_001351506
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001338436   ⟸   NM_001351507
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001338434   ⟸   NM_001351505
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000433007   ⟸   ENST00000478100
Ensembl Acc Id: ENSP00000364272   ⟸   ENST00000375130
Ensembl Acc Id: ENSP00000364289   ⟸   ENST00000375147
Ensembl Acc Id: ENSP00000487569   ⟸   ENST00000629069
Protein Domains
MIF4G   MIF4G-like type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q09161-F1-model_v2 AlphaFold Q09161 1-790 view protein structure

Promoters
RGD ID:7215609
Promoter ID:EPDNEW_H13551
Type:initiation region
Name:NCBP1_2
Description:nuclear cap binding protein subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13552  EPDNEW_H13553  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,448 - 97,633,508EPDNEW
RGD ID:7215611
Promoter ID:EPDNEW_H13552
Type:initiation region
Name:NCBP1_3
Description:nuclear cap binding protein subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13551  EPDNEW_H13553  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,616 - 97,633,676EPDNEW
RGD ID:7215613
Promoter ID:EPDNEW_H13553
Type:initiation region
Name:NCBP1_1
Description:nuclear cap binding protein subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13551  EPDNEW_H13552  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,633,821 - 97,633,881EPDNEW
RGD ID:6807545
Promoter ID:HG_KWN:64258
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:ENST00000375132,   ENST00000375147,   OTTHUMT00000053339
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,434,556 - 99,435,912 (+)MPROMDB
RGD ID:6807542
Promoter ID:HG_KWN:64260
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000375130
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,469,091 - 99,469,591 (+)MPROMDB
RGD ID:6807899
Promoter ID:HG_KWN:64261
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000053338
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,474,049 - 99,474,549 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7658 AgrOrtholog
COSMIC NCBP1 COSMIC
Ensembl Genes ENSG00000136937 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000375130.2 UniProtKB/TrEMBL
  ENST00000375147 ENTREZGENE
  ENST00000375147.8 UniProtKB/Swiss-Prot
  ENST00000478100.3 UniProtKB/TrEMBL
  ENST00000629069.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136937 GTEx
HGNC ID HGNC:7658 ENTREZGENE
Human Proteome Map NCBP1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBP80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIF4G-like_typ-1 UniProtKB/Swiss-Prot
  MIF4G-like_typ-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIF4G-like_typ-3 UniProtKB/Swiss-Prot
KEGG Report hsa:4686 UniProtKB/Swiss-Prot
NCBI Gene 4686 ENTREZGENE
OMIM 600469 OMIM
PANTHER NUCLEAR CAP-BINDING PROTEIN SUBUNIT 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12412 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MIF4G UniProtKB/Swiss-Prot
  MIF4G_like UniProtKB/Swiss-Prot
  MIF4G_like_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31461 PharmGKB
SMART MIF4G UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R718 ENTREZGENE
  F2Z2T1_HUMAN UniProtKB/TrEMBL
  NCBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59G76 ENTREZGENE
  Q5T1V0 ENTREZGENE
  Q5T7X2 ENTREZGENE
  X6R941_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R718 UniProtKB/Swiss-Prot
  Q59G76 UniProtKB/Swiss-Prot
  Q5T1V0 UniProtKB/Swiss-Prot
  Q5T7X2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 NCBP1  nuclear cap binding protein subunit 1  NCBP1  nuclear cap binding protein subunit 1, 80kDa  Symbol and/or name change 5135510 APPROVED