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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for CUBN |
Gene summary |
Gene information | Gene symbol | CUBN | Gene ID | 8029 |
Gene name | cubilin | |
Synonyms | IFCR|MGA1|gp280 | |
Cytomap | 10p13 | |
Type of gene | protein-coding | |
Description | cubilin460 kDa receptorcubilin (intrinsic factor-cobalamin receptor)cubilin precursor variant 1cubilin precursor variant 2cubilin precursor variant 3intestinal intrinsic factor receptorintrinsic factor-vitamin B12 receptor | |
Modification date | 20180519 | |
UniProtAcc | O60494 | |
Context | PubMed: CUBN [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 CUBN 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 CUBN |
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 CUBN |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_48073 | 10 | 16873250:16873416:16877012:16877194:16878233:16878381 | 16877012:16877194 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48075 | 10 | 16882883:16883046:16893233:16893442:16911634:16911852 | 16893233:16893442 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48077 | 10 | 16930415:16930565:16932369:16932526:16940994:16941182 | 16932369:16932526 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48078 | 10 | 16948201:16948408:16949506:16949678:16955809:16955991 | 16949506:16949678 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48079 | 10 | 16949506:16949678:16955809:16955991:16957030:16957171 | 16955809:16955991 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48080 | 10 | 16990476:16990605:16991999:16992110:16994274:16994388 | 16991999:16992110 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48082 | 10 | 17032332:17032514:17061831:17061982:17083031:17083219 | 17061831:17061982 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48088 | 10 | 17061831:17061982:17083031:17083219:17085825:17085982 | 17083031:17083219 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48090 | 10 | 17146417:17146604:17147455:17147574:17151638:17151734 | 17147455:17147574 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48091 | 10 | 17151638:17151734:17152917:17153049:17156025:17156188 | 17152917:17153049 | ENSG00000107611.10 | ENST00000377833.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CUBN |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_48073 | 10 | 16873250:16873416:16877012:16877194:16878233:16878381 | 16877012:16877194 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48075 | 10 | 16882883:16883046:16893233:16893442:16911634:16911852 | 16893233:16893442 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48077 | 10 | 16930415:16930565:16932369:16932526:16940994:16941182 | 16932369:16932526 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48078 | 10 | 16948201:16948408:16949506:16949678:16955809:16955991 | 16949506:16949678 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48079 | 10 | 16949506:16949678:16955809:16955991:16957030:16957171 | 16955809:16955991 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48080 | 10 | 16990476:16990605:16991999:16992110:16994274:16994388 | 16991999:16992110 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48082 | 10 | 17032332:17032514:17061831:17061982:17083031:17083219 | 17061831:17061982 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48088 | 10 | 17061831:17061982:17083031:17083219:17085825:17085982 | 17083031:17083219 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48090 | 10 | 17146417:17146604:17147455:17147574:17151638:17151734 | 17147455:17147574 | ENSG00000107611.10 | ENST00000377833.4 |
exon_skip_48091 | 10 | 17151638:17151734:17152917:17153049:17156025:17156188 | 17152917:17153049 | ENSG00000107611.10 | ENST00000377833.4 |
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 CUBN |
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 |
ENST00000377833 | 16877012 | 16877194 | Frame-shift |
ENST00000377833 | 16893233 | 16893442 | Frame-shift |
ENST00000377833 | 16932369 | 16932526 | Frame-shift |
ENST00000377833 | 16949506 | 16949678 | Frame-shift |
ENST00000377833 | 16955809 | 16955991 | Frame-shift |
ENST00000377833 | 17061831 | 17061982 | Frame-shift |
ENST00000377833 | 17083031 | 17083219 | Frame-shift |
ENST00000377833 | 17147455 | 17147574 | Frame-shift |
ENST00000377833 | 16991999 | 16992110 | In-frame |
ENST00000377833 | 17152917 | 17153049 | 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 |
ENST00000377833 | 16877012 | 16877194 | Frame-shift |
ENST00000377833 | 16893233 | 16893442 | Frame-shift |
ENST00000377833 | 16932369 | 16932526 | Frame-shift |
ENST00000377833 | 16949506 | 16949678 | Frame-shift |
ENST00000377833 | 16955809 | 16955991 | Frame-shift |
ENST00000377833 | 17061831 | 17061982 | Frame-shift |
ENST00000377833 | 17083031 | 17083219 | Frame-shift |
ENST00000377833 | 17147455 | 17147574 | Frame-shift |
ENST00000377833 | 16991999 | 16992110 | In-frame |
ENST00000377833 | 17152917 | 17153049 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CUBN |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000377833 | 11966 | 3623 | 17152917 | 17153049 | 950 | 1081 | 294 | 338 |
ENST00000377833 | 11966 | 3623 | 16991999 | 16992110 | 5036 | 5146 | 1656 | 1693 |
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 |
ENST00000377833 | 11966 | 3623 | 17152917 | 17153049 | 950 | 1081 | 294 | 338 |
ENST00000377833 | 11966 | 3623 | 16991999 | 16992110 | 5036 | 5146 | 1656 | 1693 |
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 |
O60494 | 294 | 338 | 36 | 3623 | Chain | ID=PRO_0000046073;Note=Cubilin |
O60494 | 294 | 338 | 292 | 303 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
O60494 | 294 | 338 | 263 | 304 | Domain | Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
O60494 | 294 | 338 | 305 | 348 | Domain | Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
O60494 | 294 | 338 | 335 | 335 | Natural variant | ID=VAR_061154;Note=A->T;Dbxref=dbSNP:rs57335729 |
O60494 | 1656 | 1693 | 36 | 3623 | Chain | ID=PRO_0000046073;Note=Cubilin |
O60494 | 1656 | 1693 | 1675 | 1697 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
O60494 | 1656 | 1693 | 1620 | 1734 | Domain | Note=CUB 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
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 |
O60494 | 294 | 338 | 36 | 3623 | Chain | ID=PRO_0000046073;Note=Cubilin |
O60494 | 294 | 338 | 292 | 303 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
O60494 | 294 | 338 | 263 | 304 | Domain | Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
O60494 | 294 | 338 | 305 | 348 | Domain | Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
O60494 | 294 | 338 | 335 | 335 | Natural variant | ID=VAR_061154;Note=A->T;Dbxref=dbSNP:rs57335729 |
O60494 | 1656 | 1693 | 36 | 3623 | Chain | ID=PRO_0000046073;Note=Cubilin |
O60494 | 1656 | 1693 | 1675 | 1697 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
O60494 | 1656 | 1693 | 1620 | 1734 | Domain | Note=CUB 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
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SNVs in the skipped exons for CUBN |
- 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. |
- 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 |
UCEC | TCGA-A5-A0G5-01 | exon_skip_48073 | 16877013 | 16877194 | 16877096 | 16877096 | Frame_Shift_Del | C | - | p.A3427fs |
LUAD | TCGA-49-6743-01 | exon_skip_48075 | 16893234 | 16893442 | 16893306 | 16893306 | Frame_Shift_Del | A | - | p.I3197fs |
BRCA | TCGA-BH-A0AZ-01 | exon_skip_48075 | 16893234 | 16893442 | 16893319 | 16893322 | Frame_Shift_Del | ACAG | - | p.P3192fs |
HNSC | TCGA-UF-A7J9-01 | exon_skip_48075 | 16893234 | 16893442 | 16893336 | 16893336 | Frame_Shift_Del | C | - | p.W3187fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_48075 | 16893234 | 16893442 | 16893370 | 16893370 | Frame_Shift_Del | T | - | p.N3176fs |
STAD | TCGA-BR-4201-01 | exon_skip_48078 | 16949507 | 16949678 | 16949569 | 16949569 | Frame_Shift_Del | A | - | p.F2548fs |
STAD | TCGA-MX-A5UJ-01 | exon_skip_48078 | 16949507 | 16949678 | 16949569 | 16949569 | Frame_Shift_Del | A | - | p.F2548fs |
PRAD | TCGA-EJ-7321-01 | exon_skip_48079 | 16955810 | 16955991 | 16955876 | 16955876 | Frame_Shift_Del | C | - | p.R2489fs |
OV | TCGA-09-2049-01 | exon_skip_48079 | 16955810 | 16955991 | 16955948 | 16955948 | Frame_Shift_Del | A | - | p.S2465fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_48082 | 17061832 | 17061982 | 17061877 | 17061877 | Frame_Shift_Del | C | - | p.V1375fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_48082 | 17061832 | 17061982 | 17061957 | 17061957 | Frame_Shift_Del | C | - | p.G1348fs |
LUAD | TCGA-44-2656-01 | exon_skip_48073 | 16877013 | 16877194 | 16877089 | 16877090 | Frame_Shift_Ins | - | G | p.Q3429fs |
UCEC | TCGA-BG-A0M0-01 | exon_skip_48073 | 16877013 | 16877194 | 16877089 | 16877090 | Frame_Shift_Ins | - | G | p.Q3429fs |
UCEC | TCGA-BG-A0M3-01 | exon_skip_48073 | 16877013 | 16877194 | 16877089 | 16877090 | Frame_Shift_Ins | - | G | p.Q3429fs |
UCEC | TCGA-BG-A0M9-01 | exon_skip_48073 | 16877013 | 16877194 | 16877089 | 16877090 | Frame_Shift_Ins | - | G | p.Q3429fs |
UCEC | TCGA-BK-A0CC-01 | exon_skip_48073 | 16877013 | 16877194 | 16877089 | 16877090 | Frame_Shift_Ins | - | G | p.Q3429fs |
LIHC | TCGA-CC-A5UD-01 | exon_skip_48073 | 16877013 | 16877194 | 16877186 | 16877186 | Nonsense_Mutation | T | A | p.R3397* |
LIHC | TCGA-CC-A5UD-01 | exon_skip_48073 | 16877013 | 16877194 | 16877186 | 16877186 | Nonsense_Mutation | T | A | p.R3397X |
LUAD | TCGA-86-8073-01 | exon_skip_48075 | 16893234 | 16893442 | 16893278 | 16893278 | Nonsense_Mutation | C | A | p.E3207* |
SKCM | TCGA-W3-A824-06 | exon_skip_48075 | 16893234 | 16893442 | 16893336 | 16893336 | Nonsense_Mutation | C | T | p.W3187* |
STAD | TCGA-CG-5723-01 | 16992000 | 16992110 | 16992003 | 16992003 | Nonsense_Mutation | G | A | p.R1693* | |
STAD | TCGA-CG-5723-01 | 16992000 | 16992110 | 16992003 | 16992003 | Nonsense_Mutation | G | A | p.R1693X | |
SKCM | TCGA-GN-A266-06 | exon_skip_48082 | 17061832 | 17061982 | 17061853 | 17061853 | Nonsense_Mutation | G | A | p.Q1383* |
UCEC | TCGA-A5-A0G9-01 | exon_skip_48073 | 16877013 | 16877194 | 16877011 | 16877011 | Splice_Site | A | G | e64+2 |
UCEC | TCGA-A5-A0G9-01 | exon_skip_48073 | 16877013 | 16877194 | 16877011 | 16877011 | Splice_Site | A | G | p.E3454_splice |
STAD | TCGA-BR-4257-01 | exon_skip_48077 | 16932370 | 16932526 | 16932369 | 16932369 | Splice_Site | C | T | p.R2919_splice |
STAD | TCGA-BR-7901-01 | exon_skip_48077 | 16932370 | 16932526 | 16932369 | 16932369 | Splice_Site | C | T | . |
STAD | TCGA-BR-4292-01 | exon_skip_48090 | 17147456 | 17147574 | 17147455 | 17147455 | Splice_Site | C | T | . |
STAD | TCGA-BR-4292-01 | exon_skip_48090 | 17147456 | 17147574 | 17147455 | 17147455 | Splice_Site | C | T | p.I410_splice |
LUAD | TCGA-38-4631-01 | exon_skip_48091 | 17152918 | 17153049 | 17152917 | 17152917 | Splice_Site | C | A | p.G339_splice |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
SISO_CERVIX | 16949507 | 16949678 | 16949569 | 16949569 | Frame_Shift_Del | A | - | p.F2548fs |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16949507 | 16949678 | 16949569 | 16949569 | Frame_Shift_Del | A | - | p.F2548fs |
MM426_SKIN | 17061832 | 17061982 | 17061868 | 17061868 | Frame_Shift_Del | G | - | p.R1378fs |
EN_ENDOMETRIUM | 16949507 | 16949678 | 16949568 | 16949569 | Frame_Shift_Ins | - | A | p.F2548fs |
ES2_OVARY | 16877013 | 16877194 | 16877039 | 16877039 | Missense_Mutation | C | G | p.V3446L |
SW684_SOFT_TISSUE | 16877013 | 16877194 | 16877074 | 16877074 | Missense_Mutation | G | A | p.S3434F |
NCIH1573_LUNG | 16877013 | 16877194 | 16877077 | 16877077 | Missense_Mutation | A | G | p.I3433T |
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16877013 | 16877194 | 16877137 | 16877137 | Missense_Mutation | T | C | p.D3413G |
JHU028_LUNG | 16877013 | 16877194 | 16877161 | 16877161 | Missense_Mutation | T | C | p.N3405S |
NCIH526_LUNG | 16893234 | 16893442 | 16893275 | 16893275 | Missense_Mutation | C | A | p.A3208S |
NCIH2291_LUNG | 16893234 | 16893442 | 16893436 | 16893436 | Missense_Mutation | T | A | p.Q3154L |
SNU1040_LARGE_INTESTINE | 16932370 | 16932526 | 16932420 | 16932420 | Missense_Mutation | A | G | p.F2902S |
NH6_AUTONOMIC_GANGLIA | 16932370 | 16932526 | 16932523 | 16932523 | Missense_Mutation | A | C | p.W2868G |
HOS_BONE | 16949507 | 16949678 | 16949545 | 16949545 | Missense_Mutation | C | T | p.G2556D |
HTK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16949507 | 16949678 | 16949545 | 16949545 | Missense_Mutation | C | T | p.G2556D |
NCIH2172_LUNG | 16949507 | 16949678 | 16949609 | 16949609 | Missense_Mutation | C | G | p.E2535Q |
OC316_OVARY | 16955810 | 16955991 | 16955877 | 16955877 | Missense_Mutation | C | T | p.R2489Q |
OC314_OVARY | 16955810 | 16955991 | 16955877 | 16955877 | Missense_Mutation | C | T | p.R2489Q |
HCC1438_LUNG | 16955810 | 16955991 | 16955892 | 16955892 | Missense_Mutation | G | A | p.A2484V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 16955810 | 16955991 | 16955914 | 16955914 | Missense_Mutation | T | C | p.I2477V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 17061832 | 17061982 | 17061858 | 17061858 | Missense_Mutation | C | A | p.G1381V |
HEC1A_ENDOMETRIUM | 17061832 | 17061982 | 17061885 | 17061885 | Missense_Mutation | G | A | p.T1372I |
CORL47_LUNG | 17061832 | 17061982 | 17061915 | 17061915 | Missense_Mutation | G | T | p.T1362K |
EVSAT_BREAST | 17061832 | 17061982 | 17061922 | 17061922 | Missense_Mutation | T | C | p.S1360G |
NCIH630_LARGE_INTESTINE | 17061832 | 17061982 | 17061930 | 17061930 | Missense_Mutation | G | T | p.P1357H |
NCIH1355_LUNG | 17061832 | 17061982 | 17061959 | 17061959 | Missense_Mutation | C | A | p.M1347I |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17083032 | 17083219 | 17083115 | 17083115 | Missense_Mutation | C | T | p.A1312T |
SNU1040_LARGE_INTESTINE | 17083032 | 17083219 | 17083115 | 17083115 | Missense_Mutation | C | T | p.A1312T |
SNU1040_LARGE_INTESTINE | 17083032 | 17083219 | 17083117 | 17083117 | Missense_Mutation | C | T | p.R1311Q |
CP50MELB_SKIN | 17083032 | 17083219 | 17083123 | 17083123 | Missense_Mutation | G | A | p.T1309I |
LB771HNC_UPPER_AERODIGESTIVE_TRACT | 17083032 | 17083219 | 17083201 | 17083201 | Missense_Mutation | A | G | p.I1283T |
LB771PBL_MATCHED_NORMAL_TISSUE | 17083032 | 17083219 | 17083201 | 17083201 | Missense_Mutation | A | G | p.I1283T |
NCIH69_LUNG | 17147456 | 17147574 | 17147523 | 17147523 | Missense_Mutation | C | A | p.G388V |
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17147456 | 17147574 | 17147524 | 17147524 | Missense_Mutation | C | G | p.G388R |
KM12_LARGE_INTESTINE | 17147456 | 17147574 | 17147548 | 17147548 | Missense_Mutation | G | A | p.P380S |
SW156_KIDNEY | 17152918 | 17153049 | 17152964 | 17152964 | Missense_Mutation | C | G | p.E323D |
SW948_LARGE_INTESTINE | 17152918 | 17153049 | 17153014 | 17153014 | Missense_Mutation | T | C | p.N307D |
HEC251_ENDOMETRIUM | 17061832 | 17061982 | 17061859 | 17061859 | Nonsense_Mutation | C | A | p.G1381* |
NCIH128_LUNG | 17147456 | 17147574 | 17147574 | 17147574 | Splice_Site | C | A | p.G371V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CUBN |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUBN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUBN |
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RelatedDrugs for CUBN |
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 |
O60494 | DB00200 | Hydroxocobalamin | Cubilin | small molecule | approved |
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RelatedDiseases for CUBN |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CUBN | C0025202 | melanoma | 1 | CTD_human |
CUBN | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
CUBN | C1306856 | Megaloblastic anemia due to inborn errors of metabolism | 1 | CTD_human;ORPHANET;UNIPROT |