Gene Ontology Annotations Click to see Annotation Detail View
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Gene Ontology Annotations Click to see Annotation Detail View
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# | 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 |
NBPF7P (Homo sapiens - human) |
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NBPF7P (Pan paniscus - bonobo/pygmy chimpanzee) |
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Variants in NBPF7P
3 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001047980.2(NBPF7):c.102G>A (p.Glu34=) | single nucleotide variant | Malignant melanoma [RCV000059852] | Chr1:119844434 [GRCh38] Chr1:120387057 [GRCh37] Chr1:120188580 [NCBI36] Chr1:1p12 |
not provided |
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. |
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 | |
High | |||||||||||||||
Medium | 1 | ||||||||||||||
Low | 142 | 3 | 3 | 93 | 3 | 6 | 1 | 5 | 22 | 367 | 8 | ||||
Below cutoff | 629 | 328 | 339 | 132 | 235 | 108 | 620 | 291 | 387 | 76 | 257 | 292 | 26 | 166 | 422 |
RefSeq Acc Id: | ENST00000445758 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_171566 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_171567 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P0C2Y1-F1-model_v2 | AlphaFold | P0C2Y1 | 1-421 | view protein structure |
Database | Acc Id | Source(s) |
COSMIC | NBPF7P | COSMIC |
Ensembl Genes | ENSG00000215864 | Ensembl |
GTEx | ENSG00000215864 | GTEx |
HGNC ID | HGNC:31989 | ENTREZGENE |
Human Proteome Map | NBPF7P | Human Proteome Map |
InterPro | Olduvai_dom | UniProtKB/Swiss-Prot |
NCBI Gene | 343505 | ENTREZGENE |
OMIM | 613997 | OMIM |
PANTHER | NEUROBLASTOMA BREAKPOINT FAMILY MEMBER 7-RELATED | UniProtKB/Swiss-Prot |
UNCHARACTERIZED | UniProtKB/Swiss-Prot | |
Pfam | Olduvai | UniProtKB/Swiss-Prot |
PROSITE | NBPF | UniProtKB/Swiss-Prot |
SMART | DUF1220 | UniProtKB/Swiss-Prot |
UniProt | NBPF7_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2021-03-15 | NBPF7P | NBPF member 7, pseudogene | NBPF7 | NBPF member 7 | Symbol and/or name change | 19259463 | PROVISIONAL |
2017-03-07 | NBPF7 | NBPF member 7 | neuroblastoma breakpoint family member 7 | Symbol and/or name change | 5135510 | APPROVED | |
2015-11-24 | NBPF7 | neuroblastoma breakpoint family member 7 | neuroblastoma breakpoint family, member 7 | Symbol and/or name change | 5135510 | APPROVED |