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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 KIF1B |
 Gene summary |
| Gene information | Gene symbol | KIF1B | Gene ID | 23095 |
| Gene name | kinesin family member 1B | |
| Synonyms | CMT2|CMT2A|CMT2A1|HMSNII|KLP|NBLST1 | |
| Cytomap | 1p36.22 | |
| Type of gene | protein-coding | |
| Description | kinesin-like protein KIF1Bkinesin superfamily protein KIF1B | |
| Modification date | 20200328 | |
| UniProtAcc | ||
| 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 KIF1B |
| 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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ENSG00000054523
| 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. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000635499.1 | KIF1B-213:protein_coding:KIF1B | 1.523532e+01 | 1.305502e+00 | 5.354142e-04 | 2.780798e-02 |
| PG | UP | ENST00000635499.1 | KIF1B-213:protein_coding:KIF1B | 3.215327e+01 | 8.258893e-01 | 2.870364e-03 | 3.085235e-02 |
| CB | DOWN | ENST00000622724.3 | KIF1B-212:protein_coding:KIF1B | 2.365989e+03 | -1.250898e+00 | 1.035169e-09 | 4.497900e-08 |
| CB | UP | ENST00000377083.5 | KIF1B-203:protein_coding:KIF1B | 3.127909e+01 | 8.515205e-01 | 1.143553e-04 | 8.295306e-04 |
| CB | UP | ENST00000635499.1 | KIF1B-213:protein_coding:KIF1B | 5.521226e+01 | 9.119617e-01 | 1.354926e-04 | 9.589413e-04 |
| TC | DOWN | ENST00000622724.3 | KIF1B-212:protein_coding:KIF1B | 8.549429e+02 | -1.341659e+00 | 3.311448e-06 | 1.072292e-04 |
| 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 KIF1B |
| 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_106290 | chr1 | 10282450:10282533:10291082:10291161:10292047:10292104 | 10291082:10291161 |
| exon_skip_125935 | chr1 | 10352664:10352736:10355370:10355396:10360929:10361043 | 10355370:10355396 |
| exon_skip_131817 | chr1 | 10232418:10232434:10256247:10256323:10258493:10258672 | 10256247:10256323 |
| exon_skip_133154 | chr1 | 10337152:10337203:10337371:10337533:10339769:10339859 | 10337371:10337533 |
| exon_skip_147032 | chr1 | 10277986:10278128:10279097:10279138:10282322:10282343 | 10279097:10279138 |
| exon_skip_152621 | chr1 | 10343232:10343287:10345845:10345953:10347761:10347827 | 10345845:10345953 |
| exon_skip_163698 | chr1 | 10365495:10365648:10368467:10368538:10371141:10371262 | 10368467:10368538 |
| exon_skip_173299 | chr1 | 10348649:10348733:10352631:10352736:10360929:10361043 | 10352631:10352736 |
| exon_skip_186531 | chr1 | 10256247:10256323:10258493:10258672:10261905:10261970 | 10258493:10258672 |
| exon_skip_203982 | chr1 | 10321709:10321857:10323884:10324062:10324758:10324895 | 10323884:10324062 |
| exon_skip_208472 | chr1 | 10361692:10361825:10363283:10363344:10365100:10365245 | 10363283:10363344 |
| exon_skip_218528 | chr1 | 10277986:10278128:10282400:10282533:10291082:10291161 | 10282400:10282533 |
| exon_skip_218558 | chr1 | 10232329:10232434:10256247:10256323:10258493:10258672 | 10256247:10256323 |
| exon_skip_230592 | chr1 | 10345851:10345953:10347761:10347827:10348649:10348733 | 10347761:10347827 |
| exon_skip_230894 | chr1 | 10282450:10282533:10291082:10291161:10292047:10292122 | 10291082:10291161 |
| exon_skip_237498 | chr1 | 10337074:10337203:10337371:10337533:10339769:10339859 | 10337371:10337533 |
| exon_skip_24086 | chr1 | 10368467:10368538:10371141:10371262:10374316:10374465 | 10371141:10371262 |
| exon_skip_251945 | chr1 | 10374316:10374465:10374854:10375046:10375255:10375373 | 10374854:10375046 |
| exon_skip_254129 | chr1 | 10334520:10334638:10336657:10336742:10337074:10337203 | 10336657:10336742 |
| exon_skip_25510 | chr1 | 10360929:10361043:10361692:10361825:10363283:10363344 | 10361692:10361825 |
| exon_skip_262003 | chr1 | 10277986:10278128:10279097:10279138:10282400:10282482 | 10279097:10279138 |
| exon_skip_262103 | chr1 | 10272241:10272306:10273014:10273031:10275428:10275503 | 10273014:10273031 |
| exon_skip_264629 | chr1 | 10275428:10275503:10276321:10276399:10277986:10278128 | 10276321:10276399 |
| exon_skip_271875 | chr1 | 10277986:10278128:10279097:10279138:10282322:10282383 | 10279097:10279138 |
| exon_skip_276343 | chr1 | 10277986:10278128:10279097:10279138:10282322:10282342 | 10279097:10279138 |
| exon_skip_53414 | chr1 | 10324758:10324895:10326111:10326359:10334520:10334638 | 10326111:10326359 |
| exon_skip_62017 | chr1 | 10365409:10365648:10368467:10368538:10371141:10371262 | 10368467:10368538 |
| exon_skip_64569 | chr1 | 10365153:10365245:10365409:10365648:10368467:10368502 | 10365409:10365648 |
| exon_skip_77682 | chr1 | 10277986:10278128:10279097:10279138:10282400:10282533 | 10279097:10279138 |
| exon_skip_85119 | chr1 | 10337076:10337203:10337371:10337533:10339769:10339859 | 10337371:10337533 |
| exon_skip_8676 | chr1 | 10277986:10278128:10282322:10282533:10291082:10291161 | 10282322:10282533 |
| exon_skip_93240 | chr1 | 10292047:10292122:10295086:10295165:10295660:10295766 | 10295086:10295165 |
| exon_skip_9465 | chr1 | 10345845:10345953:10347761:10347827:10348649:10348729 | 10347761:10347827 |
| exon_skip_95431 | chr1 | 10365100:10365245:10365409:10365648:10368467:10368502 | 10365409:10365648 |
| 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_262103 | MSBB_PG | 5.580132e-01 | 6.715517e-01 | -1.135385e-01 | 1.253328e-05 |
| exon_skip_271875 | MSBB_PG | 7.501325e-01 | 8.580357e-01 | -1.079033e-01 | 3.280431e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for KIF1B |
| 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 |
| ENST00000377086 | 10256247 | 10256323 | Frame-shift |
| ENST00000377086 | 10337371 | 10337533 | Frame-shift |
| ENST00000377086 | 10345845 | 10345953 | Frame-shift |
| ENST00000377086 | 10352631 | 10352736 | Frame-shift |
| ENST00000377086 | 10363283 | 10363344 | Frame-shift |
| ENST00000377086 | 10371141 | 10371262 | Frame-shift |
| ENST00000377086 | 10374854 | 10375046 | Frame-shift |
| ENST00000377086 | 10258493 | 10258672 | In-frame |
| ENST00000377086 | 10273014 | 10273031 | In-frame |
| ENST00000377086 | 10279097 | 10279138 | In-frame |
| ENST00000377086 | 10326111 | 10326359 | In-frame |
| ENST00000377086 | 10365409 | 10365648 | In-frame |
| ENST00000377086 | 10368467 | 10368538 | 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 |
| ENST00000377086 | 10256247 | 10256323 | Frame-shift |
| ENST00000377086 | 10291082 | 10291161 | Frame-shift |
| ENST00000377086 | 10337371 | 10337533 | Frame-shift |
| ENST00000377086 | 10345845 | 10345953 | Frame-shift |
| ENST00000377086 | 10352631 | 10352736 | Frame-shift |
| ENST00000377086 | 10361692 | 10361825 | Frame-shift |
| ENST00000377086 | 10374854 | 10375046 | Frame-shift |
| ENST00000377086 | 10273014 | 10273031 | In-frame |
| ENST00000377086 | 10279097 | 10279138 | In-frame |
| ENST00000377086 | 10326111 | 10326359 | 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 |
| ENST00000377086 | 10256247 | 10256323 | Frame-shift |
| ENST00000377086 | 10276321 | 10276399 | Frame-shift |
| ENST00000377086 | 10291082 | 10291161 | Frame-shift |
| ENST00000377086 | 10295086 | 10295165 | Frame-shift |
| ENST00000377086 | 10323884 | 10324062 | Frame-shift |
| ENST00000377086 | 10336657 | 10336742 | Frame-shift |
| ENST00000377086 | 10337371 | 10337533 | Frame-shift |
| ENST00000377086 | 10345845 | 10345953 | Frame-shift |
| ENST00000377086 | 10347761 | 10347827 | Frame-shift |
| ENST00000377086 | 10352631 | 10352736 | Frame-shift |
| ENST00000377086 | 10361692 | 10361825 | Frame-shift |
| ENST00000377086 | 10363283 | 10363344 | Frame-shift |
| ENST00000377086 | 10371141 | 10371262 | Frame-shift |
| ENST00000377086 | 10374854 | 10375046 | Frame-shift |
| ENST00000377086 | 10258493 | 10258672 | In-frame |
| ENST00000377086 | 10273014 | 10273031 | In-frame |
| ENST00000377086 | 10279097 | 10279138 | In-frame |
| ENST00000377086 | 10326111 | 10326359 | In-frame |
| ENST00000377086 | 10365409 | 10365648 | In-frame |
| ENST00000377086 | 10368467 | 10368538 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIF1B |
p-ENSG00000054523_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 |
| ENST00000377086 | 10686 | 1816 | 10258493 | 10258672 | 387 | 565 | 61 | 121 |
| ENST00000377086 | 10686 | 1816 | 10279097 | 10279138 | 1384 | 1424 | 394 | 407 |
| ENST00000377086 | 10686 | 1816 | 10326111 | 10326359 | 2879 | 3126 | 892 | 974 |
| ENST00000377086 | 10686 | 1816 | 10365409 | 10365648 | 4716 | 4954 | 1504 | 1584 |
| ENST00000377086 | 10686 | 1816 | 10368467 | 10368538 | 4956 | 5026 | 1584 | 1608 |
| 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 |
| ENST00000377086 | 10686 | 1816 | 10279097 | 10279138 | 1384 | 1424 | 394 | 407 |
| ENST00000377086 | 10686 | 1816 | 10326111 | 10326359 | 2879 | 3126 | 892 | 974 |
| 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 |
| ENST00000377086 | 10686 | 1816 | 10258493 | 10258672 | 387 | 565 | 61 | 121 |
| ENST00000377086 | 10686 | 1816 | 10279097 | 10279138 | 1384 | 1424 | 394 | 407 |
| ENST00000377086 | 10686 | 1816 | 10326111 | 10326359 | 2879 | 3126 | 892 | 974 |
| ENST00000377086 | 10686 | 1816 | 10365409 | 10365648 | 4716 | 4954 | 1504 | 1584 |
| ENST00000377086 | 10686 | 1816 | 10368467 | 10368538 | 4956 | 5026 | 1584 | 1608 |
| 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 |
| O60333 | 61 | 121 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 61 | 121 | 5 | 354 | Domain | Note=Kinesin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283 |
| O60333 | 61 | 121 | 98 | 98 | Natural variant | ID=VAR_011515;Note=In CMT2A1. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11389829;Dbxref=dbSNP:rs121908160,PMID:11389829 |
| O60333 | 61 | 121 | 97 | 104 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283 |
| O60333 | 61 | 121 | 87 | 87 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O60333 | 394 | 407 | 394 | 434 | Alternative sequence | ID=VSP_002859;Note=In isoform 2 and isoform 3. IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000 |
| O60333 | 394 | 407 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 892 | 974 | 707 | 1196 | Alternative sequence | ID=VSP_002860;Note=In isoform 3. YESKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQ |
| O60333 | 892 | 974 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 1504 | 1584 | 1197 | 1816 | Alternative sequence | ID=VSP_002861;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:10819331,PMID:12888911,PMID:1 |
| O60333 | 1504 | 1584 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 1504 | 1584 | 1573 | 1573 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60333 | 1504 | 1584 | 1527 | 1527 | Natural variant | ID=VAR_063536;Note=Confers susceptibility to pheochromocytoma%3B found as germline mutation in a pheochromocytoma family%3B loss of ability to induce apoptosis. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18334619;Dbxref=dbSNP:rs121908164,P |
| O60333 | 1584 | 1608 | 1197 | 1816 | Alternative sequence | ID=VSP_002861;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:10819331,PMID:12888911,PMID:1 |
| O60333 | 1584 | 1608 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 1584 | 1608 | 1603 | 1603 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60333 | 1584 | 1608 | 1600 | 1600 | Natural variant | ID=VAR_063537;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18334619;Dbxref=dbSNP:rs77172218,PMID:18334619 |
| 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 |
| O60333 | 394 | 407 | 394 | 434 | Alternative sequence | ID=VSP_002859;Note=In isoform 2 and isoform 3. IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000 |
| O60333 | 394 | 407 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 892 | 974 | 707 | 1196 | Alternative sequence | ID=VSP_002860;Note=In isoform 3. YESKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQ |
| O60333 | 892 | 974 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| 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 |
| O60333 | 61 | 121 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 61 | 121 | 5 | 354 | Domain | Note=Kinesin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283 |
| O60333 | 61 | 121 | 98 | 98 | Natural variant | ID=VAR_011515;Note=In CMT2A1. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11389829;Dbxref=dbSNP:rs121908160,PMID:11389829 |
| O60333 | 61 | 121 | 97 | 104 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283 |
| O60333 | 61 | 121 | 87 | 87 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O60333 | 394 | 407 | 394 | 434 | Alternative sequence | ID=VSP_002859;Note=In isoform 2 and isoform 3. IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000 |
| O60333 | 394 | 407 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 892 | 974 | 707 | 1196 | Alternative sequence | ID=VSP_002860;Note=In isoform 3. YESKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQ |
| O60333 | 892 | 974 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 1504 | 1584 | 1197 | 1816 | Alternative sequence | ID=VSP_002861;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:10819331,PMID:12888911,PMID:1 |
| O60333 | 1504 | 1584 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 1504 | 1584 | 1573 | 1573 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60333 | 1504 | 1584 | 1527 | 1527 | Natural variant | ID=VAR_063536;Note=Confers susceptibility to pheochromocytoma%3B found as germline mutation in a pheochromocytoma family%3B loss of ability to induce apoptosis. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18334619;Dbxref=dbSNP:rs121908164,P |
| O60333 | 1584 | 1608 | 1197 | 1816 | Alternative sequence | ID=VSP_002861;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:12888911,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:10819331,PMID:12888911,PMID:1 |
| O60333 | 1584 | 1608 | 2 | 1816 | Chain | ID=PRO_0000125407;Note=Kinesin-like protein KIF1B |
| O60333 | 1584 | 1608 | 1603 | 1603 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O60333 | 1584 | 1608 | 1600 | 1600 | Natural variant | ID=VAR_063537;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18334619;Dbxref=dbSNP:rs77172218,PMID:18334619 |
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3'-UTR located exon skipping events that lost miRNA binding sites in KIF1B |
| 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 KIF1B |
| - 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 KIF1B |
| 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_271875 | -5.087708e-01 | 5.697091e-03 | chr1 | + | 10277986 | 10278128 | 10279097 | 10279138 | 10282322 | 10282383 |
| ADstage | MSBB | PG | exon_skip_262103 | -3.483797e-01 | 2.350000e-07 | chr1 | + | 10272241 | 10272306 | 10273014 | 10273031 | 10275428 | 10275503 |
| CDR | MSBB | IFG | exon_skip_271875 | -4.757310e-01 | 1.050484e-02 | chr1 | + | 10277986 | 10278128 | 10279097 | 10279138 | 10282322 | 10282383 |
| CDR | MSBB | PG | exon_skip_262103 | -3.384512e-01 | 5.380000e-07 | chr1 | + | 10272241 | 10272306 | 10273014 | 10273031 | 10275428 | 10275503 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIF1B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_77682 | rs9332414 | chr1:10266905 | 1.092921e-04 | 1.848276e-02 |
| PCC | exon_skip_77682 | rs17034643 | chr1:10272044 | 1.092921e-04 | 1.848276e-02 |
| PCC | exon_skip_77682 | rs12120042 | chr1:10285267 | 1.092921e-04 | 1.848276e-02 |
| PCC | exon_skip_77682 | rs12120191 | chr1:10285714 | 1.092921e-04 | 1.848276e-02 |
| PCC | exon_skip_77682 | rs10492972 | chr1:10293054 | 1.133969e-04 | 1.899993e-02 |
| PCC | exon_skip_77682 | rs3748577 | chr1:10297348 | 1.133969e-04 | 1.899993e-02 |
| PCC | exon_skip_77682 | rs746881 | chr1:10286752 | 1.133969e-04 | 1.899993e-02 |
| PCC | exon_skip_77682 | rs4333852 | chr1:10327646 | 1.153428e-04 | 1.926744e-02 |
| PCC | exon_skip_77682 | rs1556917 | chr1:10340932 | 1.153428e-04 | 1.926744e-02 |
| PCC | exon_skip_77682 | rs1555849 | chr1:10340544 | 1.190863e-04 | 1.969047e-02 |
| PCC | exon_skip_77682 | rs946503 | chr1:10248573 | 1.479052e-04 | 2.360951e-02 |
| PCC | exon_skip_77682 | rs946501 | chr1:10249522 | 1.479052e-04 | 2.360951e-02 |
| PCC | exon_skip_77682 | rs4240911 | chr1:10247395 | 1.538478e-04 | 2.433062e-02 |
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Correlation with RNA binding proteins (RBPs) for KIF1B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | MSI1 | exon_skip_262103 | -5.797038e-01 | 3.603052e-19 |
| FL | ELAVL4 | exon_skip_271875 | 5.418473e-01 | 1.994662e-16 |
| FL | ELAVL4 | exon_skip_77682 | 5.159366e-01 | 3.011347e-14 |
| HCC | MSI1 | exon_skip_262103 | -7.052885e-01 | 4.440344e-42 |
| HCC | RBM47 | exon_skip_147032 | -4.187186e-01 | 7.634950e-13 |
| HCC | RBM47 | exon_skip_77682 | -4.047170e-01 | 3.828810e-12 |
| HCC | MSI1 | exon_skip_53414 | -5.739488e-01 | 3.823197e-25 |
| HCC | RBM6 | exon_skip_53414 | -4.885132e-01 | 1.164870e-17 |
| HCC | SRSF11 | exon_skip_53414 | -4.129197e-01 | 1.392954e-12 |
| HCC | U2AF2 | exon_skip_53414 | -4.378470e-01 | 4.042188e-14 |
| HCC | TIA1 | exon_skip_53414 | -4.112395e-01 | 1.750111e-12 |
| HCC | RBM5 | exon_skip_53414 | -4.279390e-01 | 1.709407e-13 |
| HCC | TRNAU1AP | exon_skip_53414 | -4.056943e-01 | 3.684061e-12 |
| HCC | RBM45 | exon_skip_53414 | -4.093361e-01 | 2.263074e-12 |
| HCC | PTBP1 | exon_skip_53414 | -5.862007e-01 | 2.098934e-26 |
| HCC | HNRNPF | exon_skip_53414 | -5.731106e-01 | 4.642379e-25 |
| HCC | ZC3H10 | exon_skip_53414 | -5.318553e-01 | 3.426160e-21 |
| HCC | RBM4B | exon_skip_53414 | -4.858754e-01 | 1.842576e-17 |
| IFG | ESRP1 | exon_skip_262103 | 4.097167e-01 | 3.036892e-02 |
| IFG | ELAVL4 | exon_skip_271875 | 5.303328e-01 | 3.696050e-03 |
| IFG | RBM47 | exon_skip_271875 | -5.261609e-01 | 4.027615e-03 |
| PCC | MSI1 | exon_skip_262103 | -5.161105e-01 | 6.744069e-16 |
| PCC | ELAVL4 | exon_skip_276343 | 5.010996e-01 | 9.473841e-15 |
| PG | MSI1 | exon_skip_262103 | -4.862379e-01 | 8.416428e-14 |
| PG | ELAVL4 | exon_skip_271875 | 6.355503e-01 | 8.086229e-25 |
| PG | NOVA1 | exon_skip_271875 | 4.567464e-01 | 4.601047e-12 |
| PG | ELAVL4 | exon_skip_77682 | 5.046756e-01 | 2.949418e-14 |
| PG | NOVA1 | exon_skip_77682 | 4.025278e-01 | 3.773929e-09 |
| PG | ELAVL4 | exon_skip_53414 | 5.505705e-01 | 3.016793e-17 |
| PG | G3BP2 | exon_skip_53414 | 4.820969e-01 | 4.902416e-13 |
| PG | RBM24 | exon_skip_53414 | 4.763986e-01 | 1.000505e-12 |
| PG | RALYL | exon_skip_53414 | 4.955458e-01 | 8.631033e-14 |
| PG | PTBP1 | exon_skip_53414 | -4.135075e-01 | 1.159072e-09 |
| PG | HNRNPH2 | exon_skip_53414 | 4.428218e-01 | 5.173846e-11 |
| STG | MSI1 | exon_skip_262103 | -6.064156e-01 | 1.179013e-10 |
| STG | ELAVL4 | exon_skip_271875 | 4.971684e-01 | 5.356296e-07 |
| STG | ELAVL4 | exon_skip_77682 | 4.908231e-01 | 2.137248e-06 |
| STG | ELAVL4 | exon_skip_53414 | 4.855178e-01 | 8.105637e-07 |
| STG | G3BP2 | exon_skip_53414 | 4.601932e-01 | 3.466259e-06 |
| STG | RBM24 | exon_skip_53414 | 4.051425e-01 | 5.616512e-05 |
| STG | RALYL | exon_skip_53414 | 5.103437e-01 | 1.733712e-07 |
| STG | HNRNPH2 | exon_skip_53414 | 4.697821e-01 | 2.026890e-06 |
| TC | ESRP1 | exon_skip_262103 | 5.088939e-01 | 7.432682e-12 |
| TC | ELAVL4 | exon_skip_271875 | 6.442178e-01 | 5.143578e-20 |
| TC | NOVA1 | exon_skip_271875 | 4.000273e-01 | 1.749530e-07 |
| TC | ELAVL4 | exon_skip_53414 | 5.343272e-01 | 3.415668e-13 |
| TC | G3BP2 | exon_skip_53414 | 4.252864e-01 | 2.073213e-08 |
| TC | RBM24 | exon_skip_53414 | 4.852108e-01 | 7.898920e-11 |
| TC | RALYL | exon_skip_53414 | 5.662586e-01 | 6.008821e-15 |
| TC | HNRNPH2 | exon_skip_53414 | 4.123824e-01 | 6.011319e-08 |
| TC | ESRP1 | exon_skip_53414 | 4.230663e-01 | 2.497903e-08 |
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RelatedDrugs for KIF1B |
| 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 KIF1B |
| 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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