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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 SPTAN1 |
 Gene summary |
| Gene information | Gene symbol | SPTAN1 | Gene ID | 6709 |
| Gene name | spectrin alpha, non-erythrocytic 1 | |
| Synonyms | EIEE5|NEAS|SPTA2 | |
| Cytomap | 9q34.11 | |
| Type of gene | protein-coding | |
| Description | spectrin alpha chain, non-erythrocytic 1alpha-II spectrinalpha-fodrinfodrin alpha chainspectrin, non-erythroid alpha chainspectrin, non-erythroid alpha subunit | |
| Modification date | 20180529 | |
| UniProtAcc | Q13813 | |
| Context | PubMed: SPTAN1 [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 SPTAN1 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 SPTAN1 |
| 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 SPTAN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499767 | 9 | 131329016:131329256:131331050:131331176:131336953:131337094 | 131331050:131331176 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499768 | 9 | 131339407:131339552:131339630:131339785:131340388:131340524 | 131339630:131339785 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499769 | 9 | 131346560:131346804:131346999:131347122:131348026:131348244 | 131346999:131347122 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499770 | 9 | 131348026:131348244:131349884:131349977:131351087:131351222 | 131349884:131349977 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499771 | 9 | 131353755:131353904:131355261:131355321:131356453:131356652 | 131355261:131355321 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499772 | 9 | 131362358:131362394:131365821:131365869:131366604:131366696 | 131365821:131365869 | ENSG00000197694.9 | ENST00000461855.1,ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499775 | 9 | 131367574:131367756:131369882:131369982:131370130:131370268 | 131369882:131369982 | ENSG00000197694.9 | ENST00000461855.1,ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499777 | 9 | 131369882:131369982:131370130:131370328:131370408:131370555 | 131370130:131370328 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499778 | 9 | 131371400:131371563:131371929:131371944:131373992:131374124 | 131371929:131371944 | ENSG00000197694.9 | ENST00000372739.3 |
| exon_skip_499780 | 9 | 131381149:131381282:131383436:131383535:131386606:131386766 | 131383436:131383535 | ENSG00000197694.9 | ENST00000372739.3,ENST00000358161.5,ENST00000372731.4 |
| exon_skip_499791 | 9 | 131389664:131389777:131390203:131390221:131392599:131392654 | 131390203:131390221 | ENSG00000197694.9 | ENST00000372739.3,ENST00000372731.4 |
| exon_skip_499809 | 9 | 131390203:131390221:131392599:131392654:131394405:131394602 | 131392599:131392654 | ENSG00000197694.9 | ENST00000372739.3,ENST00000372731.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPTAN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499767 | 9 | 131329016:131329256:131331050:131331176:131336953:131337094 | 131331050:131331176 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499768 | 9 | 131339407:131339552:131339630:131339785:131340388:131340524 | 131339630:131339785 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499769 | 9 | 131346560:131346804:131346999:131347122:131348026:131348244 | 131346999:131347122 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499770 | 9 | 131348026:131348244:131349884:131349977:131351087:131351222 | 131349884:131349977 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499771 | 9 | 131353755:131353904:131355261:131355321:131356453:131356652 | 131355261:131355321 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499772 | 9 | 131362358:131362394:131365821:131365869:131366604:131366696 | 131365821:131365869 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3,ENST00000461855.1 |
| exon_skip_499775 | 9 | 131367574:131367756:131369882:131369982:131370130:131370268 | 131369882:131369982 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3,ENST00000461855.1 |
| exon_skip_499777 | 9 | 131369882:131369982:131370130:131370328:131370408:131370555 | 131370130:131370328 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499778 | 9 | 131371400:131371563:131371929:131371944:131373992:131374124 | 131371929:131371944 | ENSG00000197694.9 | ENST00000372739.3 |
| exon_skip_499780 | 9 | 131381149:131381282:131383436:131383535:131386606:131386766 | 131383436:131383535 | ENSG00000197694.9 | ENST00000358161.5,ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499791 | 9 | 131389664:131389777:131390203:131390221:131392599:131392654 | 131390203:131390221 | ENSG00000197694.9 | ENST00000372731.4,ENST00000372739.3 |
| exon_skip_499809 | 9 | 131390203:131390221:131392599:131392654:131394405:131394602 | 131392599:131392654 | ENSG00000197694.9 | ENST00000372731.4,ENST00000372739.3 |
| 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 SPTAN1 |
| 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 |
| ENST00000372731 | 131339630 | 131339785 | Frame-shift |
| ENST00000372731 | 131369882 | 131369982 | Frame-shift |
| ENST00000372731 | 131392599 | 131392654 | Frame-shift |
| ENST00000372731 | 131331050 | 131331176 | In-frame |
| ENST00000372731 | 131346999 | 131347122 | In-frame |
| ENST00000372731 | 131349884 | 131349977 | In-frame |
| ENST00000372731 | 131355261 | 131355321 | In-frame |
| ENST00000372731 | 131365821 | 131365869 | In-frame |
| ENST00000372731 | 131370130 | 131370328 | In-frame |
| ENST00000372731 | 131383436 | 131383535 | In-frame |
| ENST00000372731 | 131390203 | 131390221 | 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 |
| ENST00000372731 | 131339630 | 131339785 | Frame-shift |
| ENST00000372731 | 131369882 | 131369982 | Frame-shift |
| ENST00000372731 | 131392599 | 131392654 | Frame-shift |
| ENST00000372731 | 131331050 | 131331176 | In-frame |
| ENST00000372731 | 131346999 | 131347122 | In-frame |
| ENST00000372731 | 131349884 | 131349977 | In-frame |
| ENST00000372731 | 131355261 | 131355321 | In-frame |
| ENST00000372731 | 131365821 | 131365869 | In-frame |
| ENST00000372731 | 131370130 | 131370328 | In-frame |
| ENST00000372731 | 131383436 | 131383535 | In-frame |
| ENST00000372731 | 131390203 | 131390221 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPTAN1 |
| 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 |
| ENST00000372731 | 7874 | 2472 | 131331050 | 131331176 | 348 | 473 | 79 | 121 |
| ENST00000372731 | 7874 | 2472 | 131346999 | 131347122 | 2548 | 2670 | 812 | 853 |
| ENST00000372731 | 7874 | 2472 | 131349884 | 131349977 | 2889 | 2981 | 926 | 957 |
| ENST00000372731 | 7874 | 2472 | 131355261 | 131355321 | 3266 | 3325 | 1052 | 1071 |
| ENST00000372731 | 7874 | 2472 | 131365821 | 131365869 | 3690 | 3737 | 1193 | 1209 |
| ENST00000372731 | 7874 | 2472 | 131370130 | 131370328 | 4257 | 4454 | 1382 | 1448 |
| ENST00000372731 | 7874 | 2472 | 131383436 | 131383535 | 5829 | 5927 | 1906 | 1939 |
| 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 |
| ENST00000372731 | 7874 | 2472 | 131331050 | 131331176 | 348 | 473 | 79 | 121 |
| ENST00000372731 | 7874 | 2472 | 131346999 | 131347122 | 2548 | 2670 | 812 | 853 |
| ENST00000372731 | 7874 | 2472 | 131349884 | 131349977 | 2889 | 2981 | 926 | 957 |
| ENST00000372731 | 7874 | 2472 | 131355261 | 131355321 | 3266 | 3325 | 1052 | 1071 |
| ENST00000372731 | 7874 | 2472 | 131365821 | 131365869 | 3690 | 3737 | 1193 | 1209 |
| ENST00000372731 | 7874 | 2472 | 131370130 | 131370328 | 4257 | 4454 | 1382 | 1448 |
| ENST00000372731 | 7874 | 2472 | 131383436 | 131383535 | 5829 | 5927 | 1906 | 1939 |
| 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 SPTAN1 |
| - 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. |
SPTAN1_COAD_exon_skip_499778_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_499767 | 131331051 | 131331176 | 131331150 | 131331150 | Frame_Shift_Del | G | - | p.G113fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_499768 | 131339631 | 131339785 | 131339671 | 131339671 | Frame_Shift_Del | C | - | p.S324fs |
| LIHC | TCGA-DD-A3A0-01 | 131347000 | 131347122 | 131347014 | 131347014 | Frame_Shift_Del | G | - | p.G818fs | |
| LIHC | TCGA-G3-A3CJ-01 | 131347000 | 131347122 | 131347014 | 131347014 | Frame_Shift_Del | G | - | p.G818fs | |
| LIHC | TCGA-DD-A1EG-01 | 131347000 | 131347122 | 131347100 | 131347100 | Frame_Shift_Del | G | - | p.K846fs | |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_499770 | 131349885 | 131349977 | 131349950 | 131349950 | Frame_Shift_Del | T | - | p.A948fs |
| OV | TCGA-13-0920-01 | exon_skip_499770 | 131349885 | 131349977 | 131349970 | 131349970 | Frame_Shift_Del | C | - | p.C956fs |
| ESCA | TCGA-IG-A3YB-01 | exon_skip_499777 | 131370131 | 131370328 | 131370264 | 131370264 | Frame_Shift_Del | G | - | p.R1427fs |
| BLCA | TCGA-DK-A1A6-01 | 131347000 | 131347122 | 131347041 | 131347041 | Nonsense_Mutation | C | T | p.Q827* | |
| BLCA | TCGA-DK-A1A6-06 | 131347000 | 131347122 | 131347041 | 131347041 | Nonsense_Mutation | C | T | p.Q827* | |
| BLCA | TCGA-G2-A2EO-01 | exon_skip_499775 | 131369883 | 131369982 | 131369932 | 131369932 | Nonsense_Mutation | G | T | p.E1366* |
| KIRP | TCGA-GL-A59T-01 | exon_skip_499777 | 131370131 | 131370328 | 131370209 | 131370209 | Nonsense_Mutation | G | T | p.G1409* |
| MESO | TCGA-TS-A7P3-01 | exon_skip_499791 | 131390204 | 131390221 | 131390210 | 131390210 | Nonsense_Mutation | C | A | p.Y2232* |
| THCA | TCGA-BJ-A3PU-01 | exon_skip_499771 | 131355262 | 131355321 | 131355261 | 131355261 | Splice_Site | G | A | . |
| PAAD | TCGA-IB-7651-01 | exon_skip_499775 | 131369883 | 131369982 | 131369983 | 131369983 | Splice_Site | G | A | . |
| COAD | TCGA-AA-3663-01 | exon_skip_499778 | 131371930 | 131371944 | 131371928 | 131371928 | Splice_Site | A | G | . |
| KIRC | TCGA-B0-4823-01 | exon_skip_499791 | 131390204 | 131390221 | 131390202 | 131390217 | Splice_Site | AGGACATACCTCCTCG | - | p.R2230_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_499778 | |
| Skipped exon start: 131371930 | |
| Skipped exon end: 131371944 | |
| Mutation start: 131371928 | |
| Mutation end: 131371928 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_18752_COAD_TCGA-AA-3663-01.png | |
exon_skip_339350_COAD_TCGA-AA-3663-01.png | |
exon_skip_339352_COAD_TCGA-AA-3663-01.png | |
exon_skip_37074_COAD_TCGA-AA-3663-01.png | |
exon_skip_379370_COAD_TCGA-AA-3663-01.png | |
exon_skip_384539_COAD_TCGA-AA-3663-01.png | |
exon_skip_384545_COAD_TCGA-AA-3663-01.png | |
exon_skip_449340_COAD_TCGA-AA-3663-01.png | |
exon_skip_49506_COAD_TCGA-AA-3663-01.png | |
exon_skip_499778_COAD_TCGA-AA-3663-01.png | |
exon_skip_84515_COAD_TCGA-AA-3663-01.png | |
| - 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 |
| UBLC1_URINARY_TRACT | 131331051 | 131331176 | 131331060 | 131331060 | Missense_Mutation | C | A | p.Q83K |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131339631 | 131339785 | 131339659 | 131339659 | Missense_Mutation | G | A | p.R320H |
| RERFLCFM_LUNG | 131339631 | 131339785 | 131339673 | 131339673 | Missense_Mutation | C | T | p.H325Y |
| CHLA57_BONE | 131349885 | 131349977 | 131349963 | 131349963 | Missense_Mutation | G | T | p.A953S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131355262 | 131355321 | 131355267 | 131355267 | Missense_Mutation | G | A | p.R1054H |
| SNU1040_LARGE_INTESTINE | 131369883 | 131369982 | 131369911 | 131369911 | Missense_Mutation | C | T | p.R1359W |
| NCIH1648_LUNG | 131370131 | 131370328 | 131370168 | 131370168 | Missense_Mutation | T | C | p.F1395S |
| NCIH630_LARGE_INTESTINE | 131370131 | 131370328 | 131370218 | 131370218 | Missense_Mutation | G | A | p.A1412T |
| UOK101_KIDNEY | 131370131 | 131370328 | 131370271 | 131370271 | Missense_Mutation | C | G | p.D1429E |
| 639V_URINARY_TRACT | 131370131 | 131370328 | 131370293 | 131370293 | Missense_Mutation | C | T | p.R1437C |
| SCABER_URINARY_TRACT | 131370131 | 131370328 | 131370308 | 131370308 | Missense_Mutation | G | C | p.D1442H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131392600 | 131392654 | 131392608 | 131392608 | Missense_Mutation | T | A | p.M2234K |
| UBLC1_URINARY_TRACT | 131331051 | 131331176 | 131331145 | 131331145 | Nonsense_Mutation | C | G | p.S111* |
| LI7_LIVER | 131365822 | 131365869 | 131365823 | 131365823 | Splice_Site | C | A | p.S1194Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPTAN1 |
| 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 SPTAN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPTAN1 |
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RelatedDrugs for SPTAN1 |
| 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 SPTAN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SPTAN1 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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