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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 SAMHD1 |
 Gene summary |
| Gene information | Gene symbol | SAMHD1 | Gene ID | 25939 |
| Gene name | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | |
| Synonyms | CHBL2|DCIP|HDDC1|MOP-5|SBBI88 | |
| Cytomap | 20q11.23 | |
| Type of gene | protein-coding | |
| Description | deoxynucleoside triphosphate triphosphohydrolase SAMHD1SAM domain and HD domain 1SAM domain and HD domain-containing protein 1dNTPasedendritic cell-derived IFNG-induced proteinmonocyte protein 5 | |
| Modification date | 20180528 | |
| UniProtAcc | Q9Y3Z3 | |
| Context | PubMed: SAMHD1 [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 |
| SAMHD1 | GO:0006203 | dGTP catabolic process | 24217394 |
| SAMHD1 | GO:0046061 | dATP catabolic process | 24141705 |
| SAMHD1 | GO:0051289 | protein homotetramerization | 24217394 |
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Exon skipping events across known transcript of Ensembl for SAMHD1 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 SAMHD1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SAMHD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_356840 | 20 | 35518631:35521469:35526224:35526362:35526842:35526947 | 35526224:35526362 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356844 | 20 | 35526224:35526362:35526842:35526947:35532559:35532652 | 35526842:35526947 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356845 | 20 | 35526842:35526947:35532559:35532652:35533766:35533797 | 35532559:35532652 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356846 | 20 | 35532559:35532652:35533766:35533906:35539620:35539736 | 35533766:35533906 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356848 | 20 | 35545351:35545452:35547766:35547922:35555584:35555655 | 35547766:35547922 | ENSG00000101347.7 | ENST00000262878.4,ENST00000373694.5 |
| exon_skip_356851 | 20 | 35559162:35559278:35563431:35563592:35569441:35569514 | 35563431:35563592 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356854 | 20 | 35563431:35563592:35563743:35563806:35569441:35569514 | 35563743:35563806 | ENSG00000101347.7 | ENST00000373694.5 |
| exon_skip_356855 | 20 | 35563431:35563592:35569441:35569514:35575140:35575207 | 35569441:35569514 | ENSG00000101347.7 | ENST00000262878.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAMHD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_356840 | 20 | 35518631:35521469:35526224:35526362:35526842:35526947 | 35526224:35526362 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356844 | 20 | 35526224:35526362:35526842:35526947:35532559:35532652 | 35526842:35526947 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356845 | 20 | 35526842:35526947:35532559:35532652:35533766:35533797 | 35532559:35532652 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356846 | 20 | 35532559:35532652:35533766:35533906:35539620:35539736 | 35533766:35533906 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356848 | 20 | 35545351:35545452:35547766:35547922:35555584:35555655 | 35547766:35547922 | ENSG00000101347.7 | ENST00000262878.4,ENST00000373694.5 |
| exon_skip_356851 | 20 | 35559162:35559278:35563431:35563592:35569441:35569514 | 35563431:35563592 | ENSG00000101347.7 | ENST00000262878.4 |
| exon_skip_356854 | 20 | 35563431:35563592:35563743:35563806:35569441:35569514 | 35563743:35563806 | ENSG00000101347.7 | ENST00000373694.5 |
| exon_skip_356855 | 20 | 35563431:35563592:35569441:35569514:35575140:35575207 | 35569441:35569514 | ENSG00000101347.7 | ENST00000262878.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SAMHD1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SAMHD1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for SAMHD1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_356840 | 35526225 | 35526362 | 35526264 | 35526264 | Frame_Shift_Del | A | - | p.F569fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_356848 | 35547767 | 35547922 | 35547783 | 35547783 | Frame_Shift_Del | G | - | p.P279fs |
| KIRC | TCGA-AK-3455-01 | exon_skip_356851 | 35563432 | 35563592 | 35563478 | 35563478 | Frame_Shift_Del | A | - | p.Y155fs |
| LIHC | TCGA-DD-AAEA-01 | exon_skip_356846 | 35533767 | 35533906 | 35533779 | 35533780 | Frame_Shift_Ins | - | A | p.I466fs |
| BLCA | TCGA-G2-A2EJ-01 | exon_skip_356846 | 35533767 | 35533906 | 35533895 | 35533896 | Frame_Shift_Ins | - | A | p.F427fs |
| BLCA | TCGA-G2-A2EJ-01 | exon_skip_356846 | 35533767 | 35533906 | 35533895 | 35533896 | Frame_Shift_Ins | - | A | p.L428fs |
| SKCM | TCGA-D3-A2JH-06 | exon_skip_356840 | 35526225 | 35526362 | 35526320 | 35526320 | Nonsense_Mutation | G | A | p.R551* |
| SKCM | TCGA-D3-A8GP-06 | exon_skip_356840 | 35526225 | 35526362 | 35526320 | 35526320 | Nonsense_Mutation | G | A | p.R551* |
| HNSC | TCGA-CV-6441-01 | exon_skip_356845 | 35532560 | 35532652 | 35532577 | 35532577 | Nonsense_Mutation | C | A | p.E496* |
| PAAD | TCGA-IB-7651-01 | exon_skip_356851 | 35563432 | 35563592 | 35563508 | 35563508 | Nonsense_Mutation | G | A | p.R145* |
| PAAD | TCGA-IB-7651-01 | exon_skip_356851 | 35563432 | 35563592 | 35563508 | 35563508 | Nonsense_Mutation | G | A | p.R145X |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_356845 | 35532560 | 35532652 | 35532654 | 35532654 | Splice_Site | T | A | . |
| - 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 |
| HEC251_ENDOMETRIUM | 35526843 | 35526947 | 35526915 | 35526915 | Missense_Mutation | C | A | p.K512N |
| MFE319_ENDOMETRIUM | 35526843 | 35526947 | 35526931 | 35526931 | Missense_Mutation | T | C | p.Y507C |
| LNCAPCLONEFGC_PROSTATE | 35532560 | 35532652 | 35532579 | 35532579 | Missense_Mutation | G | A | p.A495V |
| MM386_SKIN | 35532560 | 35532652 | 35532639 | 35532639 | Missense_Mutation | G | A | p.S475F |
| KYSE220_OESOPHAGUS | 35532560 | 35532652 | 35532649 | 35532649 | Missense_Mutation | C | T | p.D472N |
| NCIH1755_LUNG | 35533767 | 35533906 | 35533784 | 35533784 | Missense_Mutation | G | T | p.Q465K |
| NCIH1836_LUNG | 35533767 | 35533906 | 35533789 | 35533789 | Missense_Mutation | G | T | p.T463K |
| SISO_CERVIX | 35533767 | 35533906 | 35533825 | 35533825 | Missense_Mutation | C | T | p.R451H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35533767 | 35533906 | 35533825 | 35533825 | Missense_Mutation | C | T | p.R451H |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35533767 | 35533906 | 35533825 | 35533825 | Missense_Mutation | C | T | p.R451H |
| KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35533767 | 35533906 | 35533834 | 35533834 | Missense_Mutation | A | G | p.I448T |
| SKNDZ_AUTONOMIC_GANGLIA | 35533767 | 35533906 | 35533852 | 35533852 | Missense_Mutation | C | G | p.R442P |
| NCIH1155_LUNG | 35533767 | 35533906 | 35533856 | 35533856 | Missense_Mutation | C | T | p.A441T |
| NCIH2172_LUNG | 35533767 | 35533906 | 35533895 | 35533895 | Missense_Mutation | G | T | p.L428M |
| DV90_LUNG | 35547767 | 35547922 | 35547883 | 35547883 | Missense_Mutation | T | C | p.N246D |
| HUCCT1_BILIARY_TRACT | 35563432 | 35563592 | 35563450 | 35563450 | Missense_Mutation | C | A | p.R164L |
| K2_SKIN | 35563432 | 35563592 | 35563469 | 35563469 | Missense_Mutation | G | A | p.P158S |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35563432 | 35563592 | 35563489 | 35563489 | Missense_Mutation | C | A | p.G151V |
| NCIH2172_LUNG | 35563432 | 35563592 | 35563502 | 35563502 | Missense_Mutation | T | A | p.I147F |
| LMSU_STOMACH | 35526843 | 35526947 | 35526884 | 35526884 | Nonsense_Mutation | T | A | p.K523* |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35526843 | 35526947 | 35526884 | 35526884 | Nonsense_Mutation | T | A | p.K523* |
| MM386_SKIN | 35533767 | 35533906 | 35533850 | 35533850 | Nonsense_Mutation | C | A | p.E443* |
| HT3_CERVIX | 35547767 | 35547922 | 35547848 | 35547848 | Nonsense_Mutation | A | C | p.Y257* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAMHD1 |
| 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 SAMHD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAMHD1 |
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RelatedDrugs for SAMHD1 |
| 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 SAMHD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SAMHD1 | C2749659 | AICARDI-GOUTIERES SYNDROME 5 (disorder) | 3 | CTD_human;UNIPROT |
| SAMHD1 | C0024145 | Chilblain lupus 1 | 1 | CTD_human;ORPHANET |
| SAMHD1 | C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 1 | CTD_human |
| SAMHD1 | C3711385 | Deoxyguanosine Kinase Deficiency | 1 | CTD_human |
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