Imported Annotations - ClinVar | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
breast ductal carcinoma | IAGP | RGD:11039575 | 8554872 | ClinVar Annotator: match by term: Ductal breast carcinoma | ClinVar |
Imported Annotations - CTD


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Imported Annotations - ClinVar | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
breast ductal carcinoma | IAGP | RGD:11039575 | 8554872 | ClinVar Annotator: match by term: Ductal breast carcinoma | ClinVar |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
4. | Watts AG and Sanchez-Watts G, J Comp Neurol. 1995 Feb 20;352(4):501-14. |
5. | Williams FG and Beitz AJ, Brain Res. 1993 May 14;611(1):87-102. |
6. | Yamada M, etal., Neuroscience. 1995 Jan;64(2):405-17. |
7. | Zhang X, etal., Neurosci Res. 1996 Aug;25(4):359-69. |
PubMed | 409699 1436492 3525564 3670596 6754769 7791794 7836437 8075503 8719037 8770919 8869556 8954810 9530155 9756851 11278902 11559354 11801734 11811984 11815627 11906607 11912133 11922768 12074933 12150975 12473660 12477932 12531461 12609826 14699144 14743366 15123666 15358593 15489334 15623535 16087676 16519961 16754659 16984735 17068197 17207965 17289170 17570131 17620610 17644423 17870207 18048355 18577758 18624930 19086053 19393580 19878995 19932148 20138826 20468064 20731814 20810387 20858966 21030593 21212273 21233215 21272935 21508335 21542591 21623207 21806946 21873635 21994122 22416137 22700584 22825476 22849656 23064014 23109725 23140271 23418512 23436714 23597562 23962427 24000330 24198343 25098665 25200966 25249538 25249545 25724188 25847417 27193687 27312221 27611941 27612962 27666481 28560510 29417469 29546332 29590379 29795470 30104181 30213686 30359740 30527352 30991633 |
NTS (Homo sapiens - human) |
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Nts (Mus musculus - house mouse) |
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Nts (Rattus norvegicus - Norway rat) |
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Nts (Chinchilla lanigera - long-tailed chinchilla) |
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NTS (Pan paniscus - bonobo/pygmy chimpanzee) |
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NTS (Canis lupus familiaris - dog) |
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Nts (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NTS (Sus scrofa - pig) |
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GDB:384937 |
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NTS_8515 |
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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. |
RefSeq Transcripts | NG_047010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_006183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC016993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF082285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF157682 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF157683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW571577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010918 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S47339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U91618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_006183 ⟹ NP_006174 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
ATAGTTCACTCACTTTCAAAGCCAGCTGAAGGAAAGAGGAAGTGCTAGAGAGAGCCCCCTTCAGhide sequence |
Protein RefSeqs | NP_006174 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB23934 | (Get FASTA) | NCBI Sequence Viewer |
AAB50564 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10918 | (Get FASTA) | NCBI Sequence Viewer | |
AAP37614 | (Get FASTA) | NCBI Sequence Viewer | |
AAP37615 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35002 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46734 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97400 | (Get FASTA) | NCBI Sequence Viewer | |
EAW97401 | (Get FASTA) | NCBI Sequence Viewer | |
P30990 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006174 ⟸ NM_006183 |
- Peptide Label: | preproprotein |
- UniProtKB: | P30990 (UniProtKB/Swiss-Prot), Q6FH20 (UniProtKB/TrEMBL) |
- Sequence: |
MMAGMKIQLVCMLLLAFSSWSLCSDSEEEMKALEADFLTNMHTSKISKAHVPSWKMTLLNVCSLhide sequence |
RGD ID: | 6790323 | |||||||||
Promoter ID: | HG_KWN:16266 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | HeLa_S3 | |||||||||
Transcripts: | ENST00000256010 | |||||||||
Position: |
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RGD ID: | 6853448 | |||||||||
Promoter ID: | EP74549 | |||||||||
Type: | single initiation site | |||||||||
Name: | HS_NTS | |||||||||
Description: | Neurotensin. | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | |||||||||
Position: |
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RGD ID: | 7224947 | |||||||||
Promoter ID: | EPDNEW_H18219 | |||||||||
Type: | multiple initiation site | |||||||||
Name: | NTS_1 | |||||||||
Description: | neurotensin | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_006183.4(NTS):c.220G>A (p.Glu74Lys) | single nucleotide variant | Malignant melanoma [RCV000070239] | Chr12:85878429 [GRCh38] Chr12:86272207 [GRCh37] Chr12:84796338 [NCBI36] Chr12:12q21.31 |
not provided |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 | copy number loss | See cases [RCV000143099] | Chr12:73485697..92795805 [GRCh38] Chr12:73879477..93189581 [GRCh37] Chr12:72165744..91713712 [NCBI36] Chr12:12q21.1-22 |
pathogenic |
GRCh38/hg38 12q21.31-21.32(chr12:85722164-86332192)x3 | copy number gain | See cases [RCV000143492] | Chr12:85722164..86332192 [GRCh38] Chr12:86115942..86725970 [GRCh37] Chr12:84640073..85250101 [NCBI36] Chr12:12q21.31-21.32 |
likely benign|uncertain significance |
Single allele | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] | pathogenic|likely pathogenic |
NM_006183.5(NTS):c.185G>A (p.Cys62Tyr) | single nucleotide variant | Ductal breast carcinoma [RCV000207181] | Chr12:85878394 [GRCh38] Chr12:86272172 [GRCh37] Chr12:12q21.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q21.31-21.32(chr12:86115942-88186381)x1 | copy number loss | not provided [RCV000683467] | Chr12:86115942..88186381 [GRCh37] Chr12:12q21.31-21.32 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 | copy number loss | not provided [RCV000737927] | Chr12:69608090..89629345 [GRCh37] Chr12:12q15-21.33 |
pathogenic |
GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577) | copy number gain | not provided [RCV000767570] | Chr12:82183041..88755577 [GRCh37] Chr12:12q21.31-21.32 |
pathogenic |
GRCh37/hg19 12q21.31-21.32(chr12:86138213-88183106)x1 | copy number loss | not provided [RCV000847390] | Chr12:86138213..88183106 [GRCh37] Chr12:12q21.31-21.32 |
uncertain significance |
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 | copy number loss | not provided [RCV000848027] | Chr12:77737623..94330526 [GRCh37] Chr12:12q21.2-22 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:8038 | AgrOrtholog |
COSMIC | NTS | COSMIC |
Ensembl Genes | ENSG00000133636 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000256010 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000448328 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000256010 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000551529 | UniProtKB/TrEMBL | |
GTEx | ENSG00000133636 | GTEx |
HGNC ID | HGNC:8038 | ENTREZGENE |
Human Proteome Map | NTS | Human Proteome Map |
InterPro | NeurotensiN | UniProtKB/Swiss-Prot |
KEGG Report | hsa:4922 | UniProtKB/Swiss-Prot |
NCBI Gene | 4922 | ENTREZGENE |
OMIM | 162650 | OMIM |
PANTHER | PTHR15356 | UniProtKB/Swiss-Prot |
Pfam | Pro-NT_NN | UniProtKB/Swiss-Prot |
PharmGKB | PA31820 | PharmGKB |
PRINTS | NEUROTENSIN | UniProtKB/Swiss-Prot |
UniGene | Hs.80962 | ENTREZGENE |
UniProt | G3V1X6_HUMAN | UniProtKB/TrEMBL |
NEUT_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q6FH20 | ENTREZGENE, UniProtKB/TrEMBL |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
RGD Object Information | |
RGD ID: | 1319092 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.