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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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-fodrinepididymis secretory sperm binding proteinfodrin alpha chainspectrin, non-erythroid alpha chainspectrin, non-erythroid alpha subunit | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R889, A0A0D9SF54, A0A0D9SFF6, A0A0D9SFH4, A0A0D9SGF6, | |
| Context |
| 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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Gene structures and expression levels for SPTAN1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000197694
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000630147.1 | SPTAN1-220:retained_intron:SPTAN1 | 9.383637e+01 | 9.196687e-01 | 2.773896e-03 | 4.781544e-02 |
| STG | UP | ENST00000630804.2 | SPTAN1-222:protein_coding:SPTAN1 | 3.095629e+03 | 1.512347e+00 | 1.666414e-04 | 1.485010e-02 |
| PG | DOWN | ENST00000630866.1 | SPTAN1-223:protein_coding:SPTAN1 | 1.893761e+03 | -8.649535e-01 | 5.176317e-03 | 4.676627e-02 |
| CB | DOWN | ENST00000630147.1 | SPTAN1-220:retained_intron:SPTAN1 | 8.407276e+02 | -1.795823e+00 | 3.330610e-11 | 2.571749e-09 |
| CB | UP | ENST00000627809.1 | SPTAN1-213:retained_intron:SPTAN1 | 1.154505e+01 | 9.508995e-01 | 5.301455e-09 | 1.766318e-07 |
| TC | DOWN | ENST00000627441.2 | SPTAN1-212:protein_coding:SPTAN1 | 4.454696e+00 | -9.392188e-01 | 3.141818e-03 | 2.363507e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SPTAN1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_101077 | chr9 | 128607604:128607703:128607852:128608049:128608130:128608276 | 128607852:128608049 |
| exon_skip_106992 | chr9 | 128605034:128605178:128605296:128605477:128607604:128607703 | 128605296:128605477 |
| exon_skip_109736 | chr9 | 128626511:128626687:128627000:128627175:128627386:128627425 | 128627000:128627175 |
| exon_skip_134808 | chr9 | 128580953:128581059:128581782:128581892:128582479:128582556 | 128581782:128581892 |
| exon_skip_135747 | chr9 | 128566738:128566977:128568772:128568897:128574675:128574815 | 128568772:128568897 |
| exon_skip_148559 | chr9 | 128577129:128577273:128577352:128577506:128578110:128578245 | 128577352:128577506 |
| exon_skip_182093 | chr9 | 128632686:128632718:128632808:128632955:128633209:128633335 | 128632808:128632955 |
| exon_skip_183315 | chr9 | 128600080:128600115:128603543:128603590:128604326:128604335 | 128603543:128603590 |
| exon_skip_203735 | chr9 | 128627925:128627942:128630321:128630375:128632127:128632323 | 128630321:128630375 |
| exon_skip_210721 | chr9 | 128566917:128566977:128568772:128568897:128574675:128574815 | 128568772:128568897 |
| exon_skip_222691 | chr9 | 128603543:128603590:128604326:128604417:128605034:128605178 | 128604326:128604417 |
| exon_skip_231483 | chr9 | 128584282:128584525:128584721:128584843:128585748:128585965 | 128584721:128584843 |
| exon_skip_23840 | chr9 | 128627925:128627942:128630321:128630375:128632127:128632251 | 128630321:128630375 |
| exon_skip_238504 | chr9 | 128627925:128627942:128630321:128630375:128632127:128632147 | 128630321:128630375 |
| exon_skip_247611 | chr9 | 128618953:128619003:128621158:128621256:128624328:128624487 | 128621158:128621256 |
| exon_skip_248804 | chr9 | 128600080:128600115:128601345:128601400:128603543:128603590 | 128601345:128601400 |
| exon_skip_259012 | chr9 | 128609239:128609284:128609651:128609665:128611714:128611845 | 128609651:128609665 |
| exon_skip_268529 | chr9 | 128626511:128626687:128627000:128627175:128627386:128628025 | 128627000:128627175 |
| exon_skip_279650 | chr9 | 128591580:128591625:128592983:128593042:128594175:128594305 | 128592983:128593042 |
| exon_skip_294842 | chr9 | 128624328:128624487:128625103:128625179:128625769:128625855 | 128625103:128625179 |
| exon_skip_296469 | chr9 | 128591580:128591625:128592983:128593042:128594175:128594373 | 128592983:128593042 |
| exon_skip_296732 | chr9 | 128626511:128626687:128627386:128627498:128627925:128627942 | 128627386:128627498 |
| exon_skip_33979 | chr9 | 128627495:128627498:128627925:128627942:128630321:128630375 | 128627925:128627942 |
| exon_skip_40236 | chr9 | 128566741:128566977:128568772:128568897:128574675:128574735 | 128568772:128568897 |
| exon_skip_41402 | chr9 | 128552603:128552696:128555349:128555399:128566738:128566774 | 128555349:128555399 |
| exon_skip_4678 | chr9 | 128591580:128591625:128592983:128593042:128594175:128594217 | 128592983:128593042 |
| exon_skip_46875 | chr9 | 128605327:128605477:128607604:128607703:128607852:128607989 | 128607604:128607703 |
| exon_skip_47716 | chr9 | 128627925:128627942:128629125:128629187:128630321:128630375 | 128629125:128629187 |
| exon_skip_68063 | chr9 | 128552603:128552696:128555349:128555399:128566738:128566761 | 128555349:128555399 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_279650 | MSBB_STG | 6.573913e-01 | 8.091667e-01 | -1.517754e-01 | 8.934308e-03 |
| exon_skip_296469 | MSBB_PG | 4.865563e-01 | 7.037931e-01 | -2.172368e-01 | 1.525726e-07 |
| exon_skip_296469 | MSBB_IFG | 7.158824e-01 | 8.318182e-01 | -1.159358e-01 | 4.049546e-02 |
| exon_skip_4678 | Mayo_TC | 4.346341e-01 | 5.411538e-01 | -1.065197e-01 | 1.303774e-02 |
| exon_skip_162513 | Mayo_TC | 5.829687e-01 | 7.219643e-01 | -1.389955e-01 | 9.093132e-03 |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372731 | 128577352 | 128577506 | Frame-shift |
| ENST00000372731 | 128607604 | 128607703 | Frame-shift |
| ENST00000372731 | 128630321 | 128630375 | Frame-shift |
| ENST00000372731 | 128568772 | 128568897 | In-frame |
| ENST00000372731 | 128581782 | 128581892 | In-frame |
| ENST00000372731 | 128584721 | 128584843 | In-frame |
| ENST00000372731 | 128592983 | 128593042 | In-frame |
| ENST00000372731 | 128603543 | 128603590 | In-frame |
| ENST00000372731 | 128607852 | 128608049 | In-frame |
| ENST00000372731 | 128621158 | 128621256 | In-frame |
| ENST00000372731 | 128627925 | 128627942 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372731 | 128568772 | 128568897 | In-frame |
| ENST00000372731 | 128581782 | 128581892 | In-frame |
| ENST00000372731 | 128584721 | 128584843 | In-frame |
| ENST00000372731 | 128592983 | 128593042 | In-frame |
| ENST00000372731 | 128607852 | 128608049 | In-frame |
| ENST00000372731 | 128621158 | 128621256 | In-frame |
| ENST00000372731 | 128627925 | 128627942 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372731 | 128577352 | 128577506 | Frame-shift |
| ENST00000372731 | 128604326 | 128604417 | Frame-shift |
| ENST00000372731 | 128605296 | 128605477 | Frame-shift |
| ENST00000372731 | 128607604 | 128607703 | Frame-shift |
| ENST00000372731 | 128625103 | 128625179 | Frame-shift |
| ENST00000372731 | 128627386 | 128627498 | Frame-shift |
| ENST00000372731 | 128630321 | 128630375 | Frame-shift |
| ENST00000372731 | 128632808 | 128632955 | Frame-shift |
| ENST00000372731 | 128568772 | 128568897 | In-frame |
| ENST00000372731 | 128584721 | 128584843 | In-frame |
| ENST00000372731 | 128592983 | 128593042 | In-frame |
| ENST00000372731 | 128603543 | 128603590 | In-frame |
| ENST00000372731 | 128607852 | 128608049 | In-frame |
| ENST00000372731 | 128621158 | 128621256 | In-frame |
| ENST00000372731 | 128627925 | 128627942 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPTAN1 |
p-ENSG00000197694_img4.png |
| Loci of skipped exons in ROSMAP 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 | 7906 | 2472 | 128568772 | 128568897 | 381 | 505 | 79 | 121 |
| ENST00000372731 | 7906 | 2472 | 128581782 | 128581892 | 1605 | 1714 | 487 | 524 |
| ENST00000372731 | 7906 | 2472 | 128584721 | 128584843 | 2581 | 2702 | 813 | 853 |
| ENST00000372731 | 7906 | 2472 | 128592983 | 128593042 | 3299 | 3357 | 1052 | 1071 |
| ENST00000372731 | 7906 | 2472 | 128603543 | 128603590 | 3723 | 3769 | 1193 | 1209 |
| ENST00000372731 | 7906 | 2472 | 128607852 | 128608049 | 4290 | 4486 | 1382 | 1448 |
| ENST00000372731 | 7906 | 2472 | 128621158 | 128621256 | 5862 | 5959 | 1906 | 1939 |
| Loci of skipped exons in MSBB 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 | 7906 | 2472 | 128568772 | 128568897 | 381 | 505 | 79 | 121 |
| ENST00000372731 | 7906 | 2472 | 128581782 | 128581892 | 1605 | 1714 | 487 | 524 |
| ENST00000372731 | 7906 | 2472 | 128584721 | 128584843 | 2581 | 2702 | 813 | 853 |
| ENST00000372731 | 7906 | 2472 | 128592983 | 128593042 | 3299 | 3357 | 1052 | 1071 |
| ENST00000372731 | 7906 | 2472 | 128607852 | 128608049 | 4290 | 4486 | 1382 | 1448 |
| ENST00000372731 | 7906 | 2472 | 128621158 | 128621256 | 5862 | 5959 | 1906 | 1939 |
| Loci of skipped exons in Mayo 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 | 7906 | 2472 | 128568772 | 128568897 | 381 | 505 | 79 | 121 |
| ENST00000372731 | 7906 | 2472 | 128584721 | 128584843 | 2581 | 2702 | 813 | 853 |
| ENST00000372731 | 7906 | 2472 | 128592983 | 128593042 | 3299 | 3357 | 1052 | 1071 |
| ENST00000372731 | 7906 | 2472 | 128603543 | 128603590 | 3723 | 3769 | 1193 | 1209 |
| ENST00000372731 | 7906 | 2472 | 128607852 | 128608049 | 4290 | 4486 | 1382 | 1448 |
| ENST00000372731 | 7906 | 2472 | 128621158 | 128621256 | 5862 | 5959 | 1906 | 1939 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q13813 | 79 | 121 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 79 | 121 | 78 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 97 | 112 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 117 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 45 | 146 | Repeat | Note=Spectrin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 487 | 524 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 487 | 524 | 468 | 570 | Repeat | Note=Spectrin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 487 | 524 | 498 | 498 | Sequence conflict | Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13813 | 813 | 853 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 813 | 853 | 785 | 888 | Repeat | Note=Spectrin 8;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 1052 | 1071 | 1053 | 1072 | Alternative sequence | ID=VSP_012271;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q13813 | 1052 | 1071 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1193 | 1209 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1193 | 1209 | 1191 | 1210 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FOT |
| Q13813 | 1193 | 1209 | 1207 | 1207 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q13813 | 1382 | 1448 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1382 | 1448 | 1372 | 1389 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1392 | 1407 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1413 | 1466 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1339 | 1442 | Repeat | Note=Spectrin 12;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305|Ref.30 |
| Q13813 | 1382 | 1448 | 1446 | 1549 | Repeat | Note=Spectrin 13;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305|Ref.30 |
| Q13813 | 1906 | 1939 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1906 | 1939 | 1918 | 1918 | Natural variant | ID=VAR_035457;Note=In a breast cancer sample%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q13813 | 1906 | 1939 | 1871 | 1974 | Repeat | Note=Spectrin 17;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 1906 | 1939 | 1918 | 1918 | Sequence conflict | Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q13813 | 79 | 121 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 79 | 121 | 78 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 97 | 112 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 117 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 45 | 146 | Repeat | Note=Spectrin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 487 | 524 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 487 | 524 | 468 | 570 | Repeat | Note=Spectrin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 487 | 524 | 498 | 498 | Sequence conflict | Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13813 | 813 | 853 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 813 | 853 | 785 | 888 | Repeat | Note=Spectrin 8;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 1052 | 1071 | 1053 | 1072 | Alternative sequence | ID=VSP_012271;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q13813 | 1052 | 1071 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1382 | 1448 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1382 | 1448 | 1372 | 1389 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1392 | 1407 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1413 | 1466 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1339 | 1442 | Repeat | Note=Spectrin 12;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305|Ref.30 |
| Q13813 | 1382 | 1448 | 1446 | 1549 | Repeat | Note=Spectrin 13;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305|Ref.30 |
| Q13813 | 1906 | 1939 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1906 | 1939 | 1918 | 1918 | Natural variant | ID=VAR_035457;Note=In a breast cancer sample%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q13813 | 1906 | 1939 | 1871 | 1974 | Repeat | Note=Spectrin 17;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 1906 | 1939 | 1918 | 1918 | Sequence conflict | Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q13813 | 79 | 121 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 79 | 121 | 78 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 97 | 112 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 117 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F31 |
| Q13813 | 79 | 121 | 45 | 146 | Repeat | Note=Spectrin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 813 | 853 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 813 | 853 | 785 | 888 | Repeat | Note=Spectrin 8;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 1052 | 1071 | 1053 | 1072 | Alternative sequence | ID=VSP_012271;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| Q13813 | 1052 | 1071 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1193 | 1209 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1193 | 1209 | 1191 | 1210 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FOT |
| Q13813 | 1193 | 1209 | 1207 | 1207 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q13813 | 1382 | 1448 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1382 | 1448 | 1372 | 1389 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1392 | 1407 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1413 | 1466 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FB2 |
| Q13813 | 1382 | 1448 | 1339 | 1442 | Repeat | Note=Spectrin 12;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305|Ref.30 |
| Q13813 | 1382 | 1448 | 1446 | 1549 | Repeat | Note=Spectrin 13;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305|Ref.30 |
| Q13813 | 1906 | 1939 | 1 | 2472 | Chain | ID=PRO_0000073455;Note=Spectrin alpha chain%2C non-erythrocytic 1 |
| Q13813 | 1906 | 1939 | 1918 | 1918 | Natural variant | ID=VAR_035457;Note=In a breast cancer sample%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q13813 | 1906 | 1939 | 1871 | 1974 | Repeat | Note=Spectrin 17;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13813 | 1906 | 1939 | 1918 | 1918 | Sequence conflict | Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SPTAN1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for SPTAN1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for SPTAN1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_296469 | -4.144203e-01 | 2.833701e-02 | chr9 | + | 128591580 | 128591625 | 128592983 | 128593042 | 128594175 | 128594373 |
| ADstage | MSBB | PG | exon_skip_296469 | -4.357383e-01 | 4.280000e-11 | chr9 | + | 128591580 | 128591625 | 128592983 | 128593042 | 128594175 | 128594373 |
| CDR | MSBB | IFG | exon_skip_296469 | -5.125809e-01 | 5.288335e-03 | chr9 | + | 128591580 | 128591625 | 128592983 | 128593042 | 128594175 | 128594373 |
| CDR | MSBB | IFG | exon_skip_41402 | -3.767216e-01 | 4.815188e-02 | chr9 | + | 128552603 | 128552696 | 128555349 | 128555399 | 128566738 | 128566774 |
| CDR | MSBB | PG | exon_skip_296469 | -3.996335e-01 | 2.040000e-09 | chr9 | + | 128591580 | 128591625 | 128592983 | 128593042 | 128594175 | 128594373 |
| CDR | MSBB | STG | exon_skip_279650 | -4.192694e-01 | 2.880000e-05 | chr9 | + | 128591580 | 128591625 | 128592983 | 128593042 | 128594175 | 128594305 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPTAN1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SPTAN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF11 | exon_skip_296469 | 4.348360e-01 | 1.020065e-08 |
| CB | SRSF9 | exon_skip_296469 | 5.016337e-01 | 1.632969e-11 |
| CB | NOVA1 | exon_skip_296469 | 4.729771e-01 | 3.065098e-10 |
| DLPFC | RBMS2 | exon_skip_296469 | -4.278759e-01 | 1.059876e-16 |
| DLPFC | RC3H1 | exon_skip_296469 | 4.928485e-01 | 2.159402e-22 |
| DLPFC | KHDRBS2 | exon_skip_296469 | 7.375926e-01 | 4.101214e-60 |
| FL | SRSF11 | exon_skip_296469 | 4.675637e-01 | 3.341948e-12 |
| FL | KHDRBS2 | exon_skip_296469 | 4.997083e-01 | 5.744793e-14 |
| FL | ENOX1 | exon_skip_296469 | 4.400488e-01 | 7.851320e-11 |
| FL | PUF60 | exon_skip_296469 | 5.004406e-01 | 5.210546e-14 |
| FL | SRSF9 | exon_skip_296469 | 6.071942e-01 | 1.956233e-21 |
| FL | NOVA1 | exon_skip_296469 | 5.424577e-01 | 1.276991e-16 |
| HCC | DAZAP1 | exon_skip_296469 | -5.710227e-01 | 5.043671e-25 |
| HCC | RBMS2 | exon_skip_296469 | -6.846231e-01 | 4.269630e-39 |
| HCC | RBMS3 | exon_skip_296469 | -4.949793e-01 | 2.799989e-18 |
| HCC | SRSF11 | exon_skip_296469 | -5.400610e-01 | 4.530037e-22 |
| HCC | RBM5 | exon_skip_296469 | -6.338760e-01 | 4.400746e-32 |
| HCC | KHDRBS2 | exon_skip_296469 | 4.927515e-01 | 4.171757e-18 |
| IFG | DAZAP1 | exon_skip_296469 | -4.940348e-01 | 7.539559e-03 |
| IFG | RBMS3 | exon_skip_296469 | -4.708555e-01 | 1.144163e-02 |
| IFG | RBM5 | exon_skip_296469 | -4.805278e-01 | 9.646665e-03 |
| PCC | RBMS2 | exon_skip_296469 | -7.177840e-01 | 2.457291e-35 |
| PG | RBMS2 | exon_skip_296469 | -4.715545e-01 | 5.731735e-13 |
| PG | SRSF11 | exon_skip_296469 | 4.286917e-01 | 9.434811e-11 |
| PG | KHDRBS2 | exon_skip_296469 | 6.517303e-01 | 1.179141e-26 |
| PG | ENOX1 | exon_skip_296469 | 4.279230e-01 | 1.027366e-10 |
| PG | PUF60 | exon_skip_296469 | 4.666469e-01 | 1.066602e-12 |
| PG | NOVA1 | exon_skip_296469 | 5.649367e-01 | 5.101493e-19 |
| STG | SRSF11 | exon_skip_279650 | 4.185179e-01 | 2.982851e-05 |
| STG | KHDRBS2 | exon_skip_279650 | 5.493313e-01 | 1.183726e-08 |
| STG | PUF60 | exon_skip_279650 | 4.395724e-01 | 1.041701e-05 |
| STG | SRSF9 | exon_skip_279650 | 5.269210e-01 | 5.770348e-08 |
| STG | NOVA1 | exon_skip_279650 | 5.243193e-01 | 6.884644e-08 |
| TC | RBMS2 | exon_skip_4678 | -4.200684e-01 | 3.205808e-08 |
| TC | KHDRBS2 | exon_skip_4678 | 8.693483e-01 | 3.151219e-50 |
| TC | ENOX1 | exon_skip_4678 | 4.824682e-01 | 1.044231e-10 |
| TC | EWSR1 | exon_skip_4678 | 4.467598e-01 | 3.184727e-09 |
| TC | SRSF9 | exon_skip_4678 | 4.219701e-01 | 2.737292e-08 |
| TC | NOVA1 | exon_skip_4678 | 7.347723e-01 | 1.993105e-28 |
| TC | SRSF2 | exon_skip_162513 | 4.832068e-01 | 2.271765e-08 |
| TC | MSI1 | exon_skip_162513 | -5.396890e-01 | 2.009582e-10 |
| TC | ELAVL4 | exon_skip_162513 | 6.596040e-01 | 2.561896e-16 |
| TC | RBM6 | exon_skip_162513 | -4.265678e-01 | 1.185207e-06 |
| TC | SAMD4A | exon_skip_162513 | -5.189638e-01 | 1.260087e-09 |
| TC | IGF2BP2 | exon_skip_162513 | -4.546659e-01 | 1.822123e-07 |
| TC | MATR3 | exon_skip_162513 | 5.938302e-01 | 8.766678e-13 |
| TC | ILF2 | exon_skip_162513 | 4.218032e-01 | 1.601722e-06 |
| TC | RBM24 | exon_skip_162513 | 5.360536e-01 | 2.798252e-10 |
| TC | ENOX1 | exon_skip_162513 | 4.085542e-01 | 3.613621e-06 |
| TC | HNRNPA0 | exon_skip_162513 | 5.128848e-01 | 2.109881e-09 |
| TC | PUM1 | exon_skip_162513 | 4.434298e-01 | 3.931503e-07 |
| TC | HNRNPA1L2 | exon_skip_162513 | 5.334477e-01 | 3.539180e-10 |
| TC | HNRNPD | exon_skip_162513 | 4.444535e-01 | 3.669654e-07 |
| TC | NUP42 | exon_skip_162513 | 5.664837e-01 | 1.543427e-11 |
| TC | RALYL | exon_skip_162513 | 6.294144e-01 | 1.364809e-14 |
| TC | PTBP1 | exon_skip_162513 | -5.802137e-01 | 3.780294e-12 |
| TC | HNRNPH2 | exon_skip_162513 | 5.819344e-01 | 3.154559e-12 |
| TC | ESRP1 | exon_skip_162513 | 5.373007e-01 | 2.498939e-10 |
| TC | NOVA1 | exon_skip_162513 | 6.745696e-01 | 3.000097e-17 |
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RelatedDrugs for SPTAN1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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