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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 NINL |
 Gene summary |
| Gene information | Gene symbol | NINL | Gene ID | 22981 |
| Gene name | ninein like | |
| Synonyms | NLP | |
| Cytomap | 20p11.21 | |
| Type of gene | protein-coding | |
| Description | ninein-like protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y2I6 | |
| Context | PubMed: NINL [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 NINL 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 NINL |
| 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 NINL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355594 | 20 | 25450626:25450731:25456678:25457725:25459558:25459663 | 25456678:25457725 | ENSG00000101004.10 | ENST00000278886.6 |
| exon_skip_355599 | 20 | 25450626:25450731:25459558:25459842:25460796:25460903 | 25459558:25459842 | ENSG00000101004.10 | ENST00000422516.1 |
| exon_skip_355603 | 20 | 25456678:25457725:25459558:25459842:25460796:25460903 | 25459558:25459842 | ENSG00000101004.10 | ENST00000278886.6 |
| exon_skip_355607 | 20 | 25470510:25470621:25471986:25472161:25477298:25477439 | 25471986:25472161 | ENSG00000101004.10 | ENST00000422516.1,ENST00000278886.6 |
| exon_skip_355609 | 20 | 25471986:25472161:25477298:25477439:25478845:25478982 | 25477298:25477439 | ENSG00000101004.10 | ENST00000422516.1,ENST00000278886.6 |
| exon_skip_355617 | 20 | 25477298:25477439:25478845:25478982:25481475:25481646 | 25478845:25478982 | ENSG00000101004.10 | ENST00000422516.1,ENST00000278886.6 |
| exon_skip_355623 | 20 | 25478845:25478982:25481475:25481646:25484587:25484740 | 25481475:25481646 | ENSG00000101004.10 | ENST00000422516.1,ENST00000278886.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NINL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355594 | 20 | 25450626:25450731:25456678:25457725:25459558:25459663 | 25456678:25457725 | ENSG00000101004.10 | ENST00000278886.6 |
| exon_skip_355599 | 20 | 25450626:25450731:25459558:25459842:25460796:25460903 | 25459558:25459842 | ENSG00000101004.10 | ENST00000422516.1 |
| exon_skip_355603 | 20 | 25456678:25457725:25459558:25459842:25460796:25460903 | 25459558:25459842 | ENSG00000101004.10 | ENST00000278886.6 |
| exon_skip_355607 | 20 | 25470510:25470621:25471986:25472161:25477298:25477439 | 25471986:25472161 | ENSG00000101004.10 | ENST00000278886.6,ENST00000422516.1 |
| exon_skip_355609 | 20 | 25471986:25472161:25477298:25477439:25478845:25478982 | 25477298:25477439 | ENSG00000101004.10 | ENST00000278886.6,ENST00000422516.1 |
| exon_skip_355617 | 20 | 25477298:25477439:25478845:25478982:25481475:25481646 | 25478845:25478982 | ENSG00000101004.10 | ENST00000278886.6,ENST00000422516.1 |
| exon_skip_355623 | 20 | 25478845:25478982:25481475:25481646:25484587:25484740 | 25481475:25481646 | ENSG00000101004.10 | ENST00000278886.6,ENST00000422516.1 |
| 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 NINL |
| 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 |
| ENST00000278886 | 25459558 | 25459842 | Frame-shift |
| ENST00000278886 | 25471986 | 25472161 | Frame-shift |
| ENST00000278886 | 25478845 | 25478982 | Frame-shift |
| ENST00000278886 | 25456678 | 25457725 | In-frame |
| ENST00000278886 | 25477298 | 25477439 | In-frame |
| ENST00000278886 | 25481475 | 25481646 | 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 |
| ENST00000278886 | 25459558 | 25459842 | Frame-shift |
| ENST00000278886 | 25471986 | 25472161 | Frame-shift |
| ENST00000278886 | 25478845 | 25478982 | Frame-shift |
| ENST00000278886 | 25456678 | 25457725 | In-frame |
| ENST00000278886 | 25477298 | 25477439 | In-frame |
| ENST00000278886 | 25481475 | 25481646 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NINL |
| 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 |
| ENST00000278886 | 4986 | 1382 | 25481475 | 25481646 | 936 | 1106 | 287 | 344 |
| ENST00000278886 | 4986 | 1382 | 25477298 | 25477439 | 1244 | 1384 | 390 | 436 |
| ENST00000278886 | 4986 | 1382 | 25456678 | 25457725 | 2276 | 3322 | 734 | 1082 |
| 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 |
| ENST00000278886 | 4986 | 1382 | 25481475 | 25481646 | 936 | 1106 | 287 | 344 |
| ENST00000278886 | 4986 | 1382 | 25477298 | 25477439 | 1244 | 1384 | 390 | 436 |
| ENST00000278886 | 4986 | 1382 | 25456678 | 25457725 | 2276 | 3322 | 734 | 1082 |
| 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 |
| Q9Y2I6 | 287 | 344 | 1 | 1382 | Chain | ID=PRO_0000259714;Note=Ninein-like protein |
| Q9Y2I6 | 287 | 344 | 296 | 299 | Compositional bias | Note=Poly-Thr |
| Q9Y2I6 | 287 | 344 | 296 | 296 | Natural variant | ID=VAR_059703;Note=T->A;Dbxref=dbSNP:rs379538 |
| Q9Y2I6 | 287 | 344 | 303 | 303 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2I6 | 390 | 436 | 1 | 1382 | Chain | ID=PRO_0000259714;Note=Ninein-like protein |
| Q9Y2I6 | 390 | 436 | 384 | 424 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2I6 | 734 | 1082 | 735 | 1083 | Alternative sequence | ID=VSP_037883;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18826961;Dbxref=PMID:18826961 |
| Q9Y2I6 | 734 | 1082 | 1 | 1382 | Chain | ID=PRO_0000259714;Note=Ninein-like protein |
| Q9Y2I6 | 734 | 1082 | 1046 | 1375 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2I6 | 734 | 1082 | 805 | 810 | Compositional bias | Note=Poly-Glu |
| Q9Y2I6 | 734 | 1082 | 969 | 969 | Natural variant | ID=VAR_058509;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs6115193,PMID:15489334 |
| Q9Y2I6 | 734 | 1082 | 973 | 973 | Natural variant | ID=VAR_059704;Note=E->K;Dbxref=dbSNP:rs428801 |
| Q9Y2I6 | 734 | 1082 | 1077 | 1077 | Natural variant | ID=VAR_061688;Note=D->N;Dbxref=dbSNP:rs35666277 |
| Q9Y2I6 | 734 | 1082 | 958 | 959 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9Y2I6 | 287 | 344 | 1 | 1382 | Chain | ID=PRO_0000259714;Note=Ninein-like protein |
| Q9Y2I6 | 287 | 344 | 296 | 299 | Compositional bias | Note=Poly-Thr |
| Q9Y2I6 | 287 | 344 | 296 | 296 | Natural variant | ID=VAR_059703;Note=T->A;Dbxref=dbSNP:rs379538 |
| Q9Y2I6 | 287 | 344 | 303 | 303 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2I6 | 390 | 436 | 1 | 1382 | Chain | ID=PRO_0000259714;Note=Ninein-like protein |
| Q9Y2I6 | 390 | 436 | 384 | 424 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2I6 | 734 | 1082 | 735 | 1083 | Alternative sequence | ID=VSP_037883;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18826961;Dbxref=PMID:18826961 |
| Q9Y2I6 | 734 | 1082 | 1 | 1382 | Chain | ID=PRO_0000259714;Note=Ninein-like protein |
| Q9Y2I6 | 734 | 1082 | 1046 | 1375 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2I6 | 734 | 1082 | 805 | 810 | Compositional bias | Note=Poly-Glu |
| Q9Y2I6 | 734 | 1082 | 969 | 969 | Natural variant | ID=VAR_058509;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs6115193,PMID:15489334 |
| Q9Y2I6 | 734 | 1082 | 973 | 973 | Natural variant | ID=VAR_059704;Note=E->K;Dbxref=dbSNP:rs428801 |
| Q9Y2I6 | 734 | 1082 | 1077 | 1077 | Natural variant | ID=VAR_061688;Note=D->N;Dbxref=dbSNP:rs35666277 |
| Q9Y2I6 | 734 | 1082 | 958 | 959 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for NINL |
| - 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_355594 | 25456679 | 25457725 | 25456782 | 25456782 | Frame_Shift_Del | T | - | p.I1049fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_355594 | 25456679 | 25457725 | 25456782 | 25456782 | Frame_Shift_Del | T | - | p.I1049fs |
| LUAD | TCGA-69-7765-01 | exon_skip_355594 | 25456679 | 25457725 | 25456791 | 25456791 | Frame_Shift_Del | C | - | p.E1046fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_355594 | 25456679 | 25457725 | 25457034 | 25457034 | Frame_Shift_Del | C | - | p.A966fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_355607 | 25471987 | 25472161 | 25472136 | 25472136 | Frame_Shift_Del | T | - | p.R446fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_355623 | 25481476 | 25481646 | 25481511 | 25481511 | Frame_Shift_Del | G | - | p.Q333fs |
| SKCM | TCGA-EB-A3Y6-01 | exon_skip_355594 | 25456679 | 25457725 | 25456969 | 25456969 | Nonsense_Mutation | C | T | p.W986* |
| SKCM | TCGA-EB-A3Y6-01 | exon_skip_355594 | 25456679 | 25457725 | 25456969 | 25456969 | Nonsense_Mutation | C | T | p.W986X |
| THCA | TCGA-DJ-A1QQ-01 | exon_skip_355594 | 25456679 | 25457725 | 25457075 | 25457075 | Nonsense_Mutation | G | T | p.S951X |
| COAD | TCGA-AD-6889-01 | exon_skip_355603 exon_skip_355599 | 25459559 | 25459842 | 25459618 | 25459618 | Nonsense_Mutation | G | T | p.C714X |
| HNSC | TCGA-MZ-A7D7-01 | exon_skip_355607 | 25471987 | 25472161 | 25472025 | 25472025 | Nonsense_Mutation | C | A | p.E483* |
| - 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 |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 25456679 | 25457725 | 25456683 | 25456683 | Missense_Mutation | C | A | p.D1082Y |
| ZR7530_BREAST | 25456679 | 25457725 | 25456684 | 25456684 | Missense_Mutation | G | C | p.N1081K |
| FTC238_THYROID | 25456679 | 25457725 | 25456877 | 25456877 | Missense_Mutation | G | A | p.A1017V |
| NCIH2172_LUNG | 25456679 | 25457725 | 25456928 | 25456928 | Missense_Mutation | C | A | p.R1000L |
| SNU1040_LARGE_INTESTINE | 25456679 | 25457725 | 25456929 | 25456929 | Missense_Mutation | G | A | p.R1000W |
| NCIH2286_LUNG | 25456679 | 25457725 | 25456933 | 25456933 | Missense_Mutation | C | A | p.Q998H |
| NCIH1339_LUNG | 25456679 | 25457725 | 25456934 | 25456934 | Missense_Mutation | T | G | p.Q998P |
| NCIH2172_LUNG | 25456679 | 25457725 | 25456969 | 25456969 | Missense_Mutation | C | G | p.W986C |
| SNU1040_LARGE_INTESTINE | 25456679 | 25457725 | 25457028 | 25457028 | Missense_Mutation | A | G | p.S967P |
| EN_ENDOMETRIUM | 25456679 | 25457725 | 25457042 | 25457042 | Missense_Mutation | A | G | p.L962P |
| CCK81_LARGE_INTESTINE | 25456679 | 25457725 | 25457144 | 25457144 | Missense_Mutation | G | A | p.A928V |
| LS411N_LARGE_INTESTINE | 25456679 | 25457725 | 25457237 | 25457237 | Missense_Mutation | G | T | p.P897Q |
| PWR1E_PROSTATE | 25456679 | 25457725 | 25457261 | 25457261 | Missense_Mutation | T | C | p.Q889R |
| HEC6_ENDOMETRIUM | 25456679 | 25457725 | 25457312 | 25457312 | Missense_Mutation | G | A | p.A872V |
| PK59_PANCREAS | 25456679 | 25457725 | 25457372 | 25457372 | Missense_Mutation | C | G | p.G852A |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25456679 | 25457725 | 25457412 | 25457412 | Missense_Mutation | C | A | p.G839C |
| WM2664_SKIN | 25456679 | 25457725 | 25457472 | 25457472 | Missense_Mutation | C | T | p.G819R |
| WM115_SKIN | 25456679 | 25457725 | 25457472 | 25457472 | Missense_Mutation | C | T | p.G819R |
| SW900_LUNG | 25456679 | 25457725 | 25457487 | 25457487 | Missense_Mutation | C | A | p.G814W |
| SW948_LARGE_INTESTINE | 25456679 | 25457725 | 25457514 | 25457514 | Missense_Mutation | C | T | p.E805K |
| SNU1040_LARGE_INTESTINE | 25456679 | 25457725 | 25457514 | 25457514 | Missense_Mutation | C | T | p.E805K |
| NCIH1573_LUNG | 25456679 | 25457725 | 25457529 | 25457529 | Missense_Mutation | C | A | p.V800L |
| HCC2450_LUNG | 25456679 | 25457725 | 25457550 | 25457550 | Missense_Mutation | C | T | p.E793K |
| SCH_STOMACH | 25456679 | 25457725 | 25457621 | 25457621 | Missense_Mutation | A | G | p.L769P |
| JHOM1_OVARY | 25456679 | 25457725 | 25457621 | 25457621 | Missense_Mutation | A | G | p.L769P |
| NCIH2110_LUNG | 25456679 | 25457725 | 25457670 | 25457670 | Missense_Mutation | C | A | p.A753S |
| NCIH2342_LUNG | 25456679 | 25457725 | 25457714 | 25457714 | Missense_Mutation | T | A | p.E738V |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25459559 | 25459842 | 25459574 | 25459574 | Missense_Mutation | T | C | p.H729R |
| SKMEL2_SKIN | 25459559 | 25459842 | 25459580 | 25459580 | Missense_Mutation | T | C | p.H727R |
| NCIH630_LARGE_INTESTINE | 25459559 | 25459842 | 25459652 | 25459652 | Missense_Mutation | C | T | p.G703D |
| NCIH1573_LUNG | 25459559 | 25459842 | 25459659 | 25459659 | Missense_Mutation | C | A | p.A701S |
| KYSE450_OESOPHAGUS | 25459559 | 25459842 | 25459746 | 25459746 | Missense_Mutation | G | T | p.L672M |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25459559 | 25459842 | 25459761 | 25459761 | Missense_Mutation | G | A | p.R667C |
| NCIH378_LUNG | 25459559 | 25459842 | 25459772 | 25459772 | Missense_Mutation | T | G | p.Q663P |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 25471987 | 25472161 | 25472036 | 25472036 | Missense_Mutation | A | C | p.L479R |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 25471987 | 25472161 | 25472066 | 25472066 | Missense_Mutation | C | G | p.R469T |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25471987 | 25472161 | 25472099 | 25472099 | Missense_Mutation | C | A | p.R458L |
| TE4_OESOPHAGUS | 25471987 | 25472161 | 25472099 | 25472099 | Missense_Mutation | C | A | p.R458L |
| KM12_LARGE_INTESTINE | 25471987 | 25472161 | 25472121 | 25472121 | Missense_Mutation | G | A | p.R451W |
| SW1271_LUNG | 25477299 | 25477439 | 25477398 | 25477398 | Missense_Mutation | C | A | p.R404M |
| SNU1040_LARGE_INTESTINE | 25478846 | 25478982 | 25478931 | 25478931 | Missense_Mutation | C | T | p.A362T |
| HUH28_BILIARY_TRACT | 25481476 | 25481646 | 25481497 | 25481497 | Missense_Mutation | C | G | p.Q337H |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25481476 | 25481646 | 25481577 | 25481577 | Missense_Mutation | G | C | p.L311V |
| MM383_SKIN | 25481476 | 25481646 | 25481604 | 25481604 | Missense_Mutation | G | A | p.L302F |
| TE441T_SOFT_TISSUE | 25481476 | 25481646 | 25481639 | 25481639 | Missense_Mutation | T | G | p.E290A |
| MFE319_ENDOMETRIUM | 25456679 | 25457725 | 25457565 | 25457565 | Nonsense_Mutation | G | A | p.Q788* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NINL |
| 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 |
| exon_skip_355594 | 20 | 25450626:25450731:25456678:25457725:25459558:25459663 | 25456678:25457725 | ENST00000278886.6 | THCA | rs437635 | chr20:25456888 | A/G | 1.68e-04 |
| exon_skip_355594 | 20 | 25450626:25450731:25456678:25457725:25459558:25459663 | 25456678:25457725 | ENST00000278886.6 | THCA | rs68078266 | chr20:25457049 | GCTCCCA/G | 1.68e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NINL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NINL |
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RelatedDrugs for NINL |
| 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 NINL |
| 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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