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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CCDC90B |
Gene summary |
| Gene information | Gene symbol | CCDC90B | Gene ID | 60492 |
| Gene name | coiled-coil domain containing 90B | |
| Synonyms | MDS011|MDS025 | |
| Cytomap | 11q14.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 90B, mitochondrial | |
| Modification date | 20180523 | |
| UniProtAcc | Q9GZT6 | |
| Context | PubMed: CCDC90B [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for CCDC90B from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for CCDC90B |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CCDC90B |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_76324 | 11 | 82972970:82973008:82976906:82977021:82984689:82984743 | 82976906:82977021 | ENSG00000137500.5 | ENST00000529073.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000260054.4 |
| exon_skip_76326 | 11 | 82972970:82973008:82984689:82984743:82984835:82984907 | 82984689:82984743 | ENSG00000137500.5 | ENST00000527495.1 |
| exon_skip_76330 | 11 | 82976957:82977021:82977908:82978080:82984689:82984743 | 82977908:82978080 | ENSG00000137500.5 | ENST00000533761.1 |
| exon_skip_76332 | 11 | 82976957:82977021:82984689:82984743:82984835:82984907 | 82984689:82984743 | ENSG00000137500.5 | ENST00000528149.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000529745.1,ENST00000529856.1,ENST00000534753.1,ENST00000529312.1,ENST00000260054.4 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENSG00000137500.5 | ENST00000260054.4 |
| exon_skip_76335 | 11 | 82984835:82984907:82984993:82985035:82985681:82985783 | 82984993:82985035 | ENSG00000137500.5 | ENST00000528149.1,ENST00000525916.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000529745.1,ENST00000527495.1,ENST00000529856.1,ENST00000534753.1,ENST00000529312.1 |
| exon_skip_76336 | 11 | 82984993:82985035:82985681:82985783:82989768:82989872 | 82985681:82985783 | ENSG00000137500.5 | ENST00000529073.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000527495.1,ENST00000260054.4 |
| exon_skip_76337 | 11 | 82984993:82985035:82985681:82985783:82991183:82991303 | 82985681:82985783 | ENSG00000137500.5 | ENST00000528149.1,ENST00000529745.1,ENST00000529312.1 |
| exon_skip_76338 | 11 | 82984993:82985035:82985681:82985806:82989768:82989872 | 82985681:82985806 | ENSG00000137500.5 | ENST00000534753.1 |
| exon_skip_76344 | 11 | 82985682:82985783:82989768:82989872:82991183:82991303 | 82989768:82989872 | ENSG00000137500.5 | ENST00000529073.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000526631.1,ENST00000260054.4 |
| exon_skip_76346 | 11 | 82985681:82985783:82991183:82991303:82996169:82996254 | 82991183:82991303 | ENSG00000137500.5 | ENST00000529312.1 |
| exon_skip_76347 | 11 | 82985682:82985783:82991183:82991303:82996595:82997011 | 82991183:82991303 | ENSG00000137500.5 | ENST00000528149.1 |
| exon_skip_76349 | 11 | 82985681:82985783:82991183:82991303:82996915:82997007 | 82991183:82991303 | ENSG00000137500.5 | ENST00000530253.1,ENST00000529745.1,ENST00000533761.1 |
| exon_skip_76353 | 11 | 82985681:82985806:82989768:82989872:82991183:82991303 | 82989768:82989872 | ENSG00000137500.5 | ENST00000534753.1 |
| exon_skip_76354 | 11 | 82989768:82989872:82991183:82991303:82996915:82997007 | 82991183:82991303 | ENSG00000137500.5 | ENST00000529073.1,ENST00000534753.1,ENST00000526631.1,ENST00000260054.4 |
| exon_skip_76356 | 11 | 82991183:82991303:82996169:82996254:82996915:82997007 | 82996169:82996254 | ENSG00000137500.5 | ENST00000527025.1,ENST00000529312.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC90B |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_76324 | 11 | 82972970:82973008:82976906:82977021:82984689:82984743 | 82976906:82977021 | ENSG00000137500.5 | ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000529073.1 |
| exon_skip_76326 | 11 | 82972970:82973008:82984689:82984743:82984835:82984907 | 82984689:82984743 | ENSG00000137500.5 | ENST00000527495.1 |
| exon_skip_76330 | 11 | 82976957:82977021:82977908:82978080:82984689:82984743 | 82977908:82978080 | ENSG00000137500.5 | ENST00000533761.1 |
| exon_skip_76332 | 11 | 82976957:82977021:82984689:82984743:82984835:82984907 | 82984689:82984743 | ENSG00000137500.5 | ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000534753.1,ENST00000527025.1,ENST00000528149.1 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENSG00000137500.5 | ENST00000260054.4 |
| exon_skip_76335 | 11 | 82984835:82984907:82984993:82985035:82985681:82985783 | 82984993:82985035 | ENSG00000137500.5 | ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000529611.1,ENST00000527495.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000534753.1,ENST00000527025.1,ENST00000528149.1,ENST00000525916.1 |
| exon_skip_76336 | 11 | 82984993:82985035:82985681:82985783:82989768:82989872 | 82985681:82985783 | ENSG00000137500.5 | ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000527495.1,ENST00000529073.1,ENST00000527025.1 |
| exon_skip_76337 | 11 | 82984993:82985035:82985681:82985783:82991183:82991303 | 82985681:82985783 | ENSG00000137500.5 | ENST00000529745.1,ENST00000529312.1,ENST00000528149.1 |
| exon_skip_76338 | 11 | 82984993:82985035:82985681:82985806:82989768:82989872 | 82985681:82985806 | ENSG00000137500.5 | ENST00000534753.1 |
| exon_skip_76344 | 11 | 82985682:82985783:82989768:82989872:82991183:82991303 | 82989768:82989872 | ENSG00000137500.5 | ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000529073.1,ENST00000527025.1,ENST00000526631.1 |
| exon_skip_76346 | 11 | 82985681:82985783:82991183:82991303:82996169:82996254 | 82991183:82991303 | ENSG00000137500.5 | ENST00000529312.1 |
| exon_skip_76347 | 11 | 82985682:82985783:82991183:82991303:82996595:82997011 | 82991183:82991303 | ENSG00000137500.5 | ENST00000528149.1 |
| exon_skip_76349 | 11 | 82985681:82985783:82991183:82991303:82996915:82997007 | 82991183:82991303 | ENSG00000137500.5 | ENST00000529745.1,ENST00000533761.1,ENST00000530253.1 |
| exon_skip_76353 | 11 | 82985681:82985806:82989768:82989872:82991183:82991303 | 82989768:82989872 | ENSG00000137500.5 | ENST00000534753.1 |
| exon_skip_76354 | 11 | 82989768:82989872:82991183:82991303:82996915:82997007 | 82991183:82991303 | ENSG00000137500.5 | ENST00000260054.4,ENST00000529073.1,ENST00000534753.1,ENST00000526631.1 |
| exon_skip_76356 | 11 | 82991183:82991303:82996169:82996254:82996915:82997007 | 82996169:82996254 | ENSG00000137500.5 | ENST00000529312.1,ENST00000527025.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CCDC90B |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000529689 | 82976906 | 82977021 | Frame-shift |
| ENST00000529689 | 82989768 | 82989872 | Frame-shift |
| ENST00000529689 | 82984689 | 82984743 | In-frame |
| ENST00000529689 | 82984993 | 82985035 | In-frame |
| ENST00000529689 | 82985681 | 82985783 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000529689 | 82976906 | 82977021 | Frame-shift |
| ENST00000529689 | 82989768 | 82989872 | Frame-shift |
| ENST00000529689 | 82984689 | 82984743 | In-frame |
| ENST00000529689 | 82984993 | 82985035 | In-frame |
| ENST00000529689 | 82985681 | 82985783 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC90B |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000529689 | 4031 | 254 | 82985681 | 82985783 | 760 | 861 | 108 | 142 |
| ENST00000529689 | 4031 | 254 | 82984993 | 82985035 | 862 | 903 | 142 | 156 |
| ENST00000529689 | 4031 | 254 | 82984689 | 82984743 | 976 | 1029 | 180 | 198 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000529689 | 4031 | 254 | 82985681 | 82985783 | 760 | 861 | 108 | 142 |
| ENST00000529689 | 4031 | 254 | 82984993 | 82985035 | 862 | 903 | 142 | 156 |
| ENST00000529689 | 4031 | 254 | 82984689 | 82984743 | 976 | 1029 | 180 | 198 |
Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9GZT6 | 108 | 142 | 43 | 254 | Chain | ID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial |
| Q9GZT6 | 108 | 142 | 129 | 164 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9GZT6 | 142 | 156 | 43 | 254 | Chain | ID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial |
| Q9GZT6 | 142 | 156 | 129 | 164 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9GZT6 | 180 | 198 | 43 | 254 | Chain | ID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial |
Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9GZT6 | 108 | 142 | 43 | 254 | Chain | ID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial |
| Q9GZT6 | 108 | 142 | 129 | 164 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9GZT6 | 142 | 156 | 43 | 254 | Chain | ID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial |
| Q9GZT6 | 142 | 156 | 129 | 164 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9GZT6 | 180 | 198 | 43 | 254 | Chain | ID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial |
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SNVs in the skipped exons for CCDC90B |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
CCDC90B_HNSC_exon_skip_76334_psi_boxplot.png![]() |
CCDC90B_HNSC_exon_skip_76335_psi_boxplot.png![]() |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| STAD | TCGA-BR-4257-01 | exon_skip_76326 exon_skip_76332 | 82984690 | 82984743 | 82984691 | 82984691 | Frame_Shift_Del | T | - | p.K198fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_76337 exon_skip_76336 | 82985682 | 82985783 | 82985714 | 82985714 | Frame_Shift_Del | T | - | p.S132fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_76338 | 82985682 | 82985806 | 82985714 | 82985714 | Frame_Shift_Del | T | - | p.S132fs |
| COAD | TCGA-AD-6889-01 | exon_skip_76326 exon_skip_76332 | 82984690 | 82984743 | 82984690 | 82984691 | Frame_Shift_Ins | - | T | p.K198fs |
| SKCM | TCGA-EB-A5UN-06 | exon_skip_76346 exon_skip_76347 exon_skip_76349 exon_skip_76354 | 82991184 | 82991303 | 82991202 | 82991202 | Nonsense_Mutation | G | A | p.Q68* |
| SKCM | TCGA-EB-A5UN-06 | exon_skip_76346 exon_skip_76347 exon_skip_76349 exon_skip_76354 | 82991184 | 82991303 | 82991202 | 82991202 | Nonsense_Mutation | G | A | p.Q68X |
| HNSC | TCGA-CV-7414-01 | exon_skip_76334 | 82984836 | 82985035 | 82985036 | 82985036 | Splice_Site | C | G | p.K143_splice |
| HNSC | TCGA-CV-7414-01 | exon_skip_76335 | 82984994 | 82985035 | 82985036 | 82985036 | Splice_Site | C | G | p.K143_splice |
- Depth of coverage in the three exons composing exon skipping event |
- Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC265_ENDOMETRIUM | 82984836 | 82985035 | 82984855 | 82984858 | Frame_Shift_Del | CTTT | - | p.ER173fs |
| BHT101_THYROID | 82976907 | 82977021 | 82976919 | 82976919 | Missense_Mutation | G | A | p.R233C |
| SUIT2_PANCREAS | 82976907 | 82977021 | 82976939 | 82976939 | Missense_Mutation | G | C | p.S226C |
| SAT_UPPER_AERODIGESTIVE_TRACT | 82976907 | 82977021 | 82976939 | 82976939 | Missense_Mutation | G | C | p.S226C |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82984836 | 82985035 | 82984863 | 82984863 | Missense_Mutation | G | C | p.N171K |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82984836 | 82985035 | 82984863 | 82984863 | Missense_Mutation | G | C | p.N171K |
| HCC1359_LUNG | 82984836 | 82985035 | 82984882 | 82984882 | Missense_Mutation | T | C | p.D165G |
| PANC1005_PANCREAS | 82984836 | 82985035 | 82984885 | 82984885 | Missense_Mutation | G | A | p.A164V |
| LS180_LARGE_INTESTINE | 82985682 | 82985783 | 82985767 | 82985767 | Missense_Mutation | T | G | p.Q114P |
| LS180_LARGE_INTESTINE | 82985682 | 82985806 | 82985767 | 82985767 | Missense_Mutation | T | G | p.Q114P |
| HEC108_ENDOMETRIUM | 82989769 | 82989872 | 82989776 | 82989776 | Missense_Mutation | G | A | p.A106V |
| TC32_BONE | 82989769 | 82989872 | 82989836 | 82989836 | Missense_Mutation | G | A | p.A86V |
| NCIH1155_LUNG | 82989769 | 82989872 | 82989837 | 82989837 | Missense_Mutation | C | T | p.A86T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82989769 | 82989872 | 82989861 | 82989861 | Missense_Mutation | T | C | p.T78A |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 82991184 | 82991303 | 82991186 | 82991186 | Missense_Mutation | T | A | p.H73L |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82991184 | 82991303 | 82991186 | 82991186 | Missense_Mutation | T | A | p.H73L |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82991184 | 82991303 | 82991186 | 82991186 | Missense_Mutation | T | A | p.H73L |
| SNU1040_LARGE_INTESTINE | 82991184 | 82991303 | 82991211 | 82991211 | Missense_Mutation | C | T | p.A65T |
| CW2_LARGE_INTESTINE | 82991184 | 82991303 | 82991219 | 82991219 | Missense_Mutation | T | C | p.D62G |
| CW2_LARGE_INTESTINE | 82991184 | 82991303 | 82991233 | 82991233 | Missense_Mutation | C | A | p.R57S |
| CW2_LARGE_INTESTINE | 82991184 | 82991303 | 82991241 | 82991241 | Nonsense_Mutation | C | A | p.E55* |
| HCC1569_BREAST | 82984690 | 82984743 | 82984690 | 82984691 | Splice_Site | - | T | p.K198fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC90B |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | CESC | rs543562 | chr11:82984985 | T/A | 1.69e-05 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | KIRP | rs543562 | chr11:82984985 | T/A | 3.05e-05 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | KIRP | rs543562 | chr11:82984985 | T/A | 3.01e-04 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | LUSC | rs543562 | chr11:82984985 | T/A | 5.18e-07 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | PAAD | rs543562 | chr11:82984985 | T/A | 4.63e-04 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | PRAD | rs543562 | chr11:82984985 | T/A | 1.07e-03 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | THCA | rs543562 | chr11:82984985 | T/A | 4.17e-07 |
| exon_skip_76334 | 11 | 82984719:82984743:82984835:82985035:82985681:82985783 | 82984835:82985035 | ENST00000260054.4 | THCA | rs543562 | chr11:82984985 | T/A | 2.65e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC90B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC90B |
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RelatedDrugs for CCDC90B |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CCDC90B |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |