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NCF1B (Neutrophil Cytosolic Factor 1B Pseudogene) is a Pseudogene. Diseases associated with NCF1B include Chronic Granulomatous Disease. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and superoxide-generating NADPH oxidase activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J073219 | Promoter | 0.3 | Ensembl | 600.7 | +0.8 | 777 | 3.2 | NCF1B lnc-FKBP6-4 piR-51671-073 RF00017-6301 SPDYE10P NSUN5 | ||
GH07J073234 | Promoter/Enhancer | 1 | ENCODE CraniofacialAtlas | 0.4 | +15.0 | 15048 | 1.3 | SP2 CTBP1 HDGF ZBTB26 ZBTB17 RUNX1 POLR2A ZNF335 ZNF610 SKIL | piR-51671-073 NCF1B lnc-FKBP6-4 NONHSAG047983.2-001 NSUN5 SPDYE10P RF00017-6301 | |
GH07J073216 | Promoter | 0.3 | Ensembl | 0.7 | -4.0 | -4023 | 0.4 | NCF1B piR-59275-001 RF00017-6301 SPDYE10P NSUN5 | ||
GH07J073210 | Promoter | 0.3 | Ensembl | 0.4 | -8.4 | -8423 | 0.8 | NCF1B piR-59275-001 SPDYE10P RF00017-6301 NSUN5 | ||
GH07J073200 | Enhancer | 0.2 | Ensembl | 0.4 | -19.5 | -19523 | 1.8 | piR-59275-001 NCF1B RF00017-6301 SPDYE10P GTF2IP4 NSUN5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016175 | superoxide-generating NADPH oxidase activity | IBA | 21873635 |
GO:0016176 | superoxide-generating NADPH oxidase activator activity | IBA | 21873635 |
GO:0032266 | phosphatidylinositol-3-phosphate binding | IBA | 21873635 |
GO:0043325 | phosphatidylinositol-3,4-bisphosphate binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006801 | superoxide metabolic process | IBA | 21873635 |
GO:0043085 | positive regulation of catalytic activity | IEA | -- |
GO:0045730 | respiratory burst | IBA | 21873635 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADPH | Experimental | Pharma | 0 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759537 | CNV | gain+loss | 17122850 |
esv2764061 | CNV | gain+loss | 21179565 |
esv34349 | CNV | gain | 17911159 |
esv3613678 | CNV | loss | 21293372 |
nsv1023115 | CNV | gain | 25217958 |
nsv1029162 | CNV | loss | 25217958 |
nsv1161563 | CNV | deletion | 26073780 |
nsv428171 | CNV | gain | 18775914 |
nsv520573 | CNV | gain+loss | 19592680 |
nsv8139 | CNV | gain | 18304495 |
nsv831027 | CNV | loss | 17160897 |
nsv981526 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chronic granulomatous disease |
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