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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for SON

check button Gene summary
Gene informationGene symbol

SON

Gene ID

6651

Gene nameSON DNA binding protein
SynonymsBASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS
Cytomap

21q22.11

Type of geneprotein-coding
Descriptionprotein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinnegative regulatory element-binding protein
Modification date20180523
UniProtAcc

P18583

ContextPubMed: SON [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
SON

GO:0006397

mRNA processing

21504830

SON

GO:0043066

negative regulation of apoptotic process

10509013

SON

GO:0048024

regulation of mRNA splicing, via spliceosome

21504830


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Exon skipping events across known transcript of Ensembl for SON from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for SON

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for SON

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3594262134915375:34915475:34918518:34918685:34921781:3492240634918518:34918685ENSG00000159140.13ENST00000300278.4,ENST00000455528.1,ENST00000381679.4,ENST00000290239.6
exon_skip_3594352134918524:34918685:34921781:34927697:34929461:3492962234921781:34927697ENSG00000159140.13ENST00000356577.4,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4,ENST00000290239.6
exon_skip_3594492134941276:34941393:34941881:34942236:34942400:3494250434941881:34942236ENSG00000159140.13ENST00000429093.2
exon_skip_3594542134941276:34941393:34944856:34944936:34945613:3494576134944856:34944936ENSG00000159140.13ENST00000455528.1,ENST00000457208.1,ENST00000290239.6

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for SON

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3594262134915375:34915475:34918518:34918685:34921781:3492240634918518:34918685ENSG00000159140.13ENST00000290239.6,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4
exon_skip_3594352134918524:34918685:34921781:34927697:34929461:3492962234921781:34927697ENSG00000159140.13ENST00000356577.4,ENST00000290239.6,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4
exon_skip_3594492134941276:34941393:34941881:34942236:34942400:3494250434941881:34942236ENSG00000159140.13ENST00000429093.2
exon_skip_3594542134941276:34941393:34944856:34944936:34945613:3494576134944856:34944936ENSG00000159140.13ENST00000290239.6,ENST00000455528.1,ENST00000457208.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for SON

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003565773492178134927697In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003565773492178134927697In-frame

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Infer the effects of exon skipping event on protein functional features for SON

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053
ENST000003565778830242634921781349276977206635812053

check button 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 featureDescription of feature


check button 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 featureDescription of feature


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SNVs in the skipped exons for SON

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
SON_LIHC_exon_skip_359435_psi_boxplot.png
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SON_LUAD_exon_skip_359435_psi_boxplot.png
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SON_PRAD_exon_skip_359435_psi_boxplot.png
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SON_STAD_exon_skip_359435_psi_boxplot.png
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SON_THYM_exon_skip_359435_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
STADTCGA-HU-A4H4-01exon_skip_359435
34921782349276973492191434921914Frame_Shift_DelA-p.E126fs
PRADTCGA-KK-A5A1-01exon_skip_359435
34921782349276973492268934922689Frame_Shift_DelG-p.P384fs
LIHCTCGA-DD-A1EG-01exon_skip_359435
34921782349276973492450534924505Frame_Shift_DelC-p.P990fs
BRCATCGA-AO-A0JB-01exon_skip_359435
34921782349276973492469934924699Frame_Shift_DelT-p.E1055fs
LIHCTCGA-DD-A1EG-01exon_skip_359435
34921782349276973492525334925253Frame_Shift_DelT-p.V1239fs
LIHCTCGA-DD-A39Y-01exon_skip_359435
34921782349276973492526634925266Frame_Shift_DelG-p.E1243fs
LIHCTCGA-DD-A3A0-01exon_skip_359435
34921782349276973492540234925402Frame_Shift_DelC-p.P1289fs
LIHCTCGA-DD-A39Y-01exon_skip_359435
34921782349276973492621234926212Frame_Shift_DelG-p.G1559fs
KIRPTCGA-A4-7734-01exon_skip_359435
34921782349276973492719834927198Frame_Shift_DelA-p.S1887fs
KIRPTCGA-A4-7734-01exon_skip_359435
34921782349276973492719834927198Frame_Shift_DelA-p.S1887X
LIHCTCGA-G3-A3CJ-01exon_skip_359435
34921782349276973492764334927643Frame_Shift_DelA-p.K2036fs
ACCTCGA-OR-A5JG-01exon_skip_359435
34921782349276973492642934926430Frame_Shift_Ins-TTp.F1631fs
ACCTCGA-OR-A5JG-01exon_skip_359435
34921782349276973492642934926430Frame_Shift_Ins-TTp.S1631fs
KICHTCGA-KM-8442-01exon_skip_359435
34921782349276973492741934927420Frame_Shift_Ins-Cp.S1961fs
CESCTCGA-C5-A1MP-01exon_skip_359426
34918519349186853491854734918547Nonsense_MutationGTp.E36*
UCECTCGA-D1-A17Q-01exon_skip_359435
34921782349276973492198834921988Nonsense_MutationGTp.E151*
THYMTCGA-ZB-A966-01exon_skip_359435
34921782349276973492310434923104Nonsense_MutationGTp.E523X
UCECTCGA-BG-A0VZ-01exon_skip_359435
34921782349276973492567334925673Nonsense_MutationCTp.R374*
LUADTCGA-97-7938-01exon_skip_359435
34921782349276973492718134927181Nonsense_MutationGTp.G1882*
UCECTCGA-BS-A0UF-01exon_skip_359435
34921782349276973492178134921781Splice_SiteGTe3-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SON_34918524_34918685_34921781_34927697_34929461_34929622_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_359435
Skipped exon start: 34921782
Skipped exon end: 34927697
Mutation start: 34924505
Mutation end: 34924505
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.P990fs
SON_34918524_34918685_34921781_34927697_34929461_34929622_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_359435
Skipped exon start: 34921782
Skipped exon end: 34927697
Mutation start: 34925253
Mutation end: 34925253
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.V1239fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
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SON_34918524_34918685_34921781_34927697_34929461_34929622_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_359435
Skipped exon start: 34921782
Skipped exon end: 34927697
Mutation start: 34925266
Mutation end: 34925266
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.E1243fs
SON_34918524_34918685_34921781_34927697_34929461_34929622_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_359435
Skipped exon start: 34921782
Skipped exon end: 34927697
Mutation start: 34926212
Mutation end: 34926212
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.G1559fs
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SON_34918524_34918685_34921781_34927697_34929461_34929622_TCGA-KK-A5A1-01Sample: TCGA-KK-A5A1-01
Cancer type: PRAD
ESID: exon_skip_359435
Skipped exon start: 34921782
Skipped exon end: 34927697
Mutation start: 34922689
Mutation end: 34922689
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P384fs
exon_skip_359435_PRAD_TCGA-KK-A5A1-01.png
boxplot
SON_34918524_34918685_34921781_34927697_34929461_34929622_TCGA-HU-A4H4-01Sample: TCGA-HU-A4H4-01
Cancer type: STAD
ESID: exon_skip_359435
Skipped exon start: 34921782
Skipped exon end: 34927697
Mutation start: 34921914
Mutation end: 34921914
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.E126fs
exon_skip_124783_STAD_TCGA-HU-A4H4-01.png
boxplot
exon_skip_23399_STAD_TCGA-HU-A4H4-01.png
boxplot
exon_skip_338795_STAD_TCGA-HU-A4H4-01.png
boxplot
exon_skip_338798_STAD_TCGA-HU-A4H4-01.png
boxplot
exon_skip_359435_STAD_TCGA-HU-A4H4-01.png
boxplot
exon_skip_447961_STAD_TCGA-HU-A4H4-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492298634922987Frame_Shift_DelTT-p.L484fs
S117_SOFT_TISSUE34921782349276973492298634922987Frame_Shift_DelTT-p.L484fs
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492197734921982In_Frame_DelACATAG-p.ID148del
HN_UPPER_AERODIGESTIVE_TRACT34921782349276973492671334926715In_Frame_DelGAG-p.E1726del
BICR18_UPPER_AERODIGESTIVE_TRACT34918519349186853491852734918527Missense_MutationAGp.N29S
S117_SOFT_TISSUE34918519349186853491852734918527Missense_MutationAGp.N29S
BICR18_UPPER_AERODIGESTIVE_TRACT34918519349186853491855634918556Missense_MutationACp.T39P
SW48_LARGE_INTESTINE34918519349186853491856034918560Missense_MutationCAp.P40H
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492179434921794Missense_MutationGCp.G86A
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492184434921844Missense_MutationAGp.I103V
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492184634921846Missense_MutationTGp.I103M
RT112_URINARY_TRACT34921782349276973492195634921956Missense_MutationCTp.T140M
G401_SOFT_TISSUE34921782349276973492197934921979Missense_MutationAGp.I148V
C99_LARGE_INTESTINE34921782349276973492201334922013Missense_MutationACp.D159A
RMGI_OVARY34921782349276973492204834922048Missense_MutationAGp.T171A
MZ2MEL_SKIN34921782349276973492208334922084Missense_MutationCCTTp.P183S
MDST8_LARGE_INTESTINE34921782349276973492209034922090Missense_MutationGCp.V185L
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492215734922157Missense_MutationCTp.P207L
HCC2998_LARGE_INTESTINE34921782349276973492225534922255Missense_MutationACp.K240Q
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492227334922273Missense_MutationGAp.A246T
JEG3_PLACENTA34921782349276973492236334922363Missense_MutationCAp.L276M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492237934922379Missense_MutationGAp.S281N
TGBC24TKB_BILIARY_TRACT34921782349276973492240134922401Missense_MutationGCp.K288N
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492255534922555Missense_MutationCTp.P340S
TE11_OESOPHAGUS34921782349276973492259234922592Missense_MutationATp.D352V
JHOS3_OVARY34921782349276973492264934922649Missense_MutationAGp.E371G
HEC108_ENDOMETRIUM34921782349276973492268734922687Missense_MutationCTp.P384S
FTC238_THYROID34921782349276973492268834922688Missense_MutationCTp.P384L
NB1_AUTONOMIC_GANGLIA34921782349276973492271934922719Missense_MutationGTp.L394F
MKN28_STOMACH34921782349276973492272634922726Missense_MutationCTp.P397S
CAL12T_LUNG34921782349276973492280734922807Missense_MutationGTp.V424L
SNU407_LARGE_INTESTINE34921782349276973492289734922897Missense_MutationCAp.P454T
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492290434922904Missense_MutationTCp.L456P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492290434922904Missense_MutationTCp.L456P
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492290434922904Missense_MutationTCp.L456P
S117_SOFT_TISSUE34921782349276973492290434922904Missense_MutationTCp.L456P
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492290934922909Missense_MutationGCp.A458P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM34921782349276973492296834922968Missense_MutationGTp.Q477H
NCIH1105_LUNG34921782349276973492306534923065Missense_MutationATp.T510S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492307634923076Missense_MutationGCp.L513F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492309034923090Missense_MutationGCp.G518A
HCT15_LARGE_INTESTINE34921782349276973492312034923120Missense_MutationCGp.P528R
SNU1040_LARGE_INTESTINE34921782349276973492317434923174Missense_MutationTCp.L546P
CHLA258_BONE34921782349276973492323134923231Missense_MutationCTp.S565L
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492325434923254Missense_MutationCTp.P573S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492325434923254Missense_MutationCTp.P573S
SNUC2A_LARGE_INTESTINE34921782349276973492325534923255Missense_MutationCTp.P573L
SNUC2B_LARGE_INTESTINE34921782349276973492325534923255Missense_MutationCTp.P573L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492329934923299Missense_MutationCTp.P588S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492330534923305Missense_MutationGAp.A590T
SNU1040_LARGE_INTESTINE34921782349276973492331434923314Missense_MutationGAp.A593T
SN12C_KIDNEY34921782349276973492332934923329Missense_MutationGCp.G598R
SNU1040_LARGE_INTESTINE34921782349276973492346934923469Missense_MutationGCp.Q644H
EFM192A_BREAST34921782349276973492347434923474Missense_MutationTGp.V646G
SKUT1_SOFT_TISSUE34921782349276973492352234923522Missense_MutationCTp.S662L
HA7RCC_KIDNEY34921782349276973492353834923538Missense_MutationGCp.M667I
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492354634923546Missense_MutationCTp.S670L
SW579_THYROID34921782349276973492356134923561Missense_MutationTCp.V675A
CGTHW1_THYROID34921782349276973492356134923561Missense_MutationTCp.V675A
KMRC1_KIDNEY34921782349276973492357034923570Missense_MutationCTp.T678M
HEC251_ENDOMETRIUM34921782349276973492366234923662Missense_MutationACp.M709L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492366934923669Missense_MutationCAp.P711Q
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492374434923744Missense_MutationTCp.L736P
HEC108_ENDOMETRIUM34921782349276973492377634923776Missense_MutationGAp.A747T
BICR18_UPPER_AERODIGESTIVE_TRACT34921782349276973492384534923845Missense_MutationTAp.S770T
KYSE30_OESOPHAGUS34921782349276973492384534923845Missense_MutationTAp.S770T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492384534923845Missense_MutationTAp.S770T
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492384534923845Missense_MutationTAp.S770T
S117_SOFT_TISSUE34921782349276973492384534923845Missense_MutationTAp.S770T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492390634923906Missense_MutationCGp.T790S
HS695T_SKIN34921782349276973492391534923915Missense_MutationCTp.S793F
SKMEL24_SKIN34921782349276973492393034923930Missense_MutationCTp.T798I
DMS454_LUNG34921782349276973492397334923973Missense_MutationCAp.D812E
DV90_LUNG34921782349276973492411834924118Missense_MutationAGp.M861V
COLO680N_OESOPHAGUS34921782349276973492419634924196Missense_MutationGAp.A887T
RPMI2650_UPPER_AERODIGESTIVE_TRACT34921782349276973492432334924323Missense_MutationGTp.R929M
SCH_STOMACH34921782349276973492441934924419Missense_MutationACp.D961A
MET2B34921782349276973492457834924578Missense_MutationAGp.E1014G
SW480_LARGE_INTESTINE34921782349276973492469634924696Missense_MutationGAp.M1053I
SNUC4_LARGE_INTESTINE34921782349276973492473434924734Missense_MutationTCp.M1066T
SKLU1_LUNG34921782349276973492481134924811Missense_MutationAGp.M1092V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492484234924842Missense_MutationCTp.S1102F
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492493534924935Missense_MutationCGp.T1133S
COLO783_SKIN34921782349276973492501234925012Missense_MutationCTp.P1159S
WM88_SKIN34921782349276973492501234925012Missense_MutationCTp.P1159S
RL952_ENDOMETRIUM34921782349276973492504334925043Missense_MutationCAp.P1169Q
JHU028_LUNG34921782349276973492507634925076Missense_MutationCTp.P1180L
HEC6_ENDOMETRIUM34921782349276973492508234925082Missense_MutationTCp.L1182S
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492518134925181Missense_MutationTAp.V1215E
HEC108_ENDOMETRIUM34921782349276973492540534925405Missense_MutationGAp.A1290T
BCPAP_THYROID34921782349276973492545134925451Missense_MutationTCp.M1305T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492549234925492Missense_MutationGAp.G1319R
NCIH650_LUNG34921782349276973492565134925651Missense_MutationAGp.T1372A
OAW28_OVARY34921782349276973492565134925651Missense_MutationAGp.T1372A
HEC1B_ENDOMETRIUM34921782349276973492565834925658Missense_MutationCTp.T1374I
LCLC97TM1_LUNG34921782349276973492571234925712Missense_MutationCTp.P1392L
PLCPRF5_LIVER34921782349276973492580534925805Missense_MutationCAp.A1423E
TTC642_SOFT_TISSUE34921782349276973492580534925805Missense_MutationCTp.A1423V
HKA1_SKIN34921782349276973492594834925948Missense_MutationCTp.P1471S
MFE319_ENDOMETRIUM34921782349276973492616234926162Missense_MutationCTp.A1542V
HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492626134926261Missense_MutationGAp.R1575H
SNU387_LIVER34921782349276973492632134926321Missense_MutationCTp.S1595F
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492636934926369Missense_MutationGTp.G1611V
CL34_LARGE_INTESTINE34921782349276973492638634926386Missense_MutationGAp.A1617T
NCIH2810_PLEURA34921782349276973492640934926409Missense_MutationTAp.N1624K
KS1_CENTRAL_NERVOUS_SYSTEM34921782349276973492644734926447Missense_MutationCTp.T1637I
TCCSUP_URINARY_TRACT34921782349276973492648634926486Missense_MutationGCp.G1650A
DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492663034926630Missense_MutationCGp.P1698R
T84_LARGE_INTESTINE34921782349276973492666334926663Missense_MutationCTp.P1709L
LN229_CENTRAL_NERVOUS_SYSTEM34921782349276973492666934926669Missense_MutationCGp.P1711R
K5_THYROID34921782349276973492669634926696Missense_MutationGAp.G1720E
LN382_CENTRAL_NERVOUS_SYSTEM34921782349276973492670734926707Missense_MutationAGp.N1724D
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492677034926770Missense_MutationCAp.L1745I
NCIH513_PLEURA34921782349276973492684634926846Missense_MutationCTp.P1770L
HCC515_LUNG34921782349276973492685834926858Missense_MutationGAp.S1774N
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492689834926898Missense_MutationATp.K1787N
SNU719_STOMACH34921782349276973492691234926912Missense_MutationTGp.I1792S
LCLC97TM1_LUNG34921782349276973492696234926962Missense_MutationCTp.R1809C
JHUEM7_ENDOMETRIUM34921782349276973492701134927011Missense_MutationGAp.R1825Q
SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492702034927020Missense_MutationGAp.R1828H
SNU1040_LARGE_INTESTINE34921782349276973492702034927020Missense_MutationGAp.R1828H
NCIH2291_LUNG34921782349276973492707134927071Missense_MutationCAp.S1845Y
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492707634927076Missense_MutationGAp.A1847T
KYSE410_OESOPHAGUS34921782349276973492716134927161Missense_MutationGAp.R1875K
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492731734927317Missense_MutationGAp.R1927H
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492732034927320Missense_MutationGAp.R1928Q
NCIH2087_LUNG34921782349276973492736534927365Missense_MutationTCp.V1943A
ES6_BONE34921782349276973492739134927391Missense_MutationTCp.S1952P
PATU8902_PANCREAS34921782349276973492739134927391Missense_MutationTCp.S1952P
H3118_UPPER_AERODIGESTIVE_TRACT34921782349276973492739134927391Missense_MutationTCp.S1952P
OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492739134927391Missense_MutationTCp.S1952P
RKN_SOFT_TISSUE34921782349276973492739134927391Missense_MutationTCp.S1952P
SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492739134927391Missense_MutationTCp.S1952P
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492739134927391Missense_MutationTCp.S1952P
NCIH2452_PLEURA34921782349276973492741234927412Missense_MutationACp.T1959P
RL952_ENDOMETRIUM34921782349276973492742534927425Missense_MutationGAp.R1963H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492745234927452Missense_MutationGAp.R1972H
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492746734927467Missense_MutationGAp.R1977H
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE34921782349276973492747334927473Missense_MutationGAp.R1979H
MERO14_LUNG34921782349276973492750534927505Missense_MutationCTp.R1990C
CA922_UPPER_AERODIGESTIVE_TRACT34921782349276973492758434927584Missense_MutationGAp.R2016K
HEC251_ENDOMETRIUM34921782349276973492759334927593Missense_MutationGAp.R2019Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SON

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3594352134918524:34918685:34921781:34927697:34929461:3492962234921781:34927697ENST00000356577.4,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4,ENST00000290239.6LUADrs61739710chr21:34925689G/A2.20e-03
exon_skip_3594352134918524:34918685:34921781:34927697:34929461:3492962234921781:34927697ENST00000356577.4,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4,ENST00000290239.6LUADrs16990760chr21:34924243T/C2.56e-03
exon_skip_3594352134918524:34918685:34921781:34927697:34929461:3492962234921781:34927697ENST00000356577.4,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4,ENST00000290239.6THCArs16990760chr21:34924243T/C2.12e-03
exon_skip_3594352134918524:34918685:34921781:34927697:34929461:3492962234921781:34927697ENST00000356577.4,ENST00000300278.4,ENST00000455528.1,ENST00000381679.4,ENST00000290239.6THCArs61739710chr21:34925689G/A2.47e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SON


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SON


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RelatedDrugs for SON

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SON

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SONC0010606Adenoid Cystic Carcinoma1CTD_human
SONC0036095Salivary Gland Neoplasms1CTD_human