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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 SHANK3 |
 Gene summary |
| Gene information | Gene symbol | SHANK3 | Gene ID | 85358 |
| Gene name | SH3 and multiple ankyrin repeat domains 3 | |
| Synonyms | DEL22q13.3|PROSAP2|PSAP2|SCZD15|SPANK-2 | |
| Cytomap | 22q13.33 | |
| Type of gene | protein-coding | |
| Description | SH3 and multiple ankyrin repeat domains protein 3proline rich synapse associated protein 2shank postsynaptic density protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BYB0 | |
| Context | PubMed: SHANK3 [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 SHANK3 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 SHANK3 |
| 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 SHANK3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367062 | 22 | 51117739:51117856:51121767:51121845:51123012:51123079 | 51121767:51121845 | ENSG00000251322.3 | ENST00000262795.3,ENST00000414786.2,ENST00000445220.2 |
| exon_skip_367066 | 22 | 51133202:51133476:51135991:51136143:51137117:51137231 | 51135991:51136143 | ENSG00000251322.3 | ENST00000414786.2 |
| exon_skip_367069 | 22 | 51144499:51144580:51150042:51150066:51153344:51153475 | 51150042:51150066 | ENSG00000251322.3 | ENST00000262795.3,ENST00000414786.2 |
| exon_skip_367078 | 22 | 51154096:51154181:51158611:51160865:51169148:51169230 | 51158611:51160865 | ENSG00000251322.3 | ENST00000262795.3 |
| exon_skip_367096 | 22 | 51158611:51160865:51162554:51162581:51169148:51169165 | 51162554:51162581 | ENSG00000251322.3 | ENST00000414786.2,ENST00000445220.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SHANK3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367062 | 22 | 51117739:51117856:51121767:51121845:51123012:51123079 | 51121767:51121845 | ENSG00000251322.3 | ENST00000414786.2,ENST00000262795.3,ENST00000445220.2 |
| exon_skip_367066 | 22 | 51133202:51133476:51135991:51136143:51137117:51137231 | 51135991:51136143 | ENSG00000251322.3 | ENST00000414786.2 |
| exon_skip_367069 | 22 | 51144499:51144580:51150042:51150066:51153344:51153475 | 51150042:51150066 | ENSG00000251322.3 | ENST00000414786.2,ENST00000262795.3 |
| exon_skip_367078 | 22 | 51154096:51154181:51158611:51160865:51169148:51169230 | 51158611:51160865 | ENSG00000251322.3 | ENST00000262795.3 |
| exon_skip_367096 | 22 | 51158611:51160865:51162554:51162581:51169148:51169165 | 51162554:51162581 | ENSG00000251322.3 | ENST00000414786.2,ENST00000445220.2 |
| 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 SHANK3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SHANK3 |
| 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 |
| 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 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for SHANK3 |
| - 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_367062 | 51121768 | 51121845 | 51121785 | 51121785 | Frame_Shift_Del | C | - | p.V301fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_367078 | 51158612 | 51160865 | 51159377 | 51159377 | Frame_Shift_Del | C | - | p.A1025fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_367078 | 51158612 | 51160865 | 51159510 | 51159510 | Frame_Shift_Del | C | - | p.G1069fs |
| HNSC | TCGA-CV-6960-01 | exon_skip_367078 | 51158612 | 51160865 | 51159933 | 51159933 | Frame_Shift_Del | G | - | p.L1210fs |
| HNSC | TCGA-CV-6960-01 | exon_skip_367078 | 51158612 | 51160865 | 51159933 | 51159933 | Frame_Shift_Del | G | - | p.L1240fs |
| THCA | TCGA-H2-A3RI-01 | exon_skip_367078 | 51158612 | 51160865 | 51159933 | 51159933 | Frame_Shift_Del | G | - | p.L1210fs |
| LUAD | TCGA-78-7155-01 | exon_skip_367078 | 51158612 | 51160865 | 51160242 | 51160242 | Frame_Shift_Del | C | - | p.G1313fs |
| LUAD | TCGA-78-7155-01 | exon_skip_367078 | 51158612 | 51160865 | 51160242 | 51160242 | Frame_Shift_Del | C | - | p.G1343fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_367078 | 51158612 | 51160865 | 51160703 | 51160703 | Frame_Shift_Del | G | - | p.R1467fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_367078 | 51158612 | 51160865 | 51160703 | 51160703 | Frame_Shift_Del | G | - | p.R1467fs |
| STAD | TCGA-F1-A72C-01 | exon_skip_367078 | 51158612 | 51160865 | 51160799 | 51160799 | Frame_Shift_Del | A | - | p.E1499fs |
| STAD | TCGA-F1-A72C-01 | exon_skip_367078 | 51158612 | 51160865 | 51160799 | 51160799 | Frame_Shift_Del | A | - | p.E1500fs |
| HNSC | TCGA-QK-A6VB-01 | exon_skip_367078 | 51158612 | 51160865 | 51159932 | 51159933 | Frame_Shift_Ins | - | G | p.R1210fs |
| LUSC | TCGA-21-1078-01 | exon_skip_367078 | 51158612 | 51160865 | 51159932 | 51159933 | Frame_Shift_Ins | - | G | p.L1240fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_367078 | 51158612 | 51160865 | 51159932 | 51159933 | Frame_Shift_Ins | - | G | p.R1210fs |
| - 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 |
| HEC6_ENDOMETRIUM | 51158612 | 51160865 | 51159641 | 51159641 | Frame_Shift_Del | C | - | p.S1113fs |
| EN_ENDOMETRIUM | 51158612 | 51160865 | 51159675 | 51159675 | Frame_Shift_Del | C | - | p.R1124fs |
| DV90_LUNG | 51158612 | 51160865 | 51159933 | 51159933 | Frame_Shift_Del | G | - | p.L1210fs |
| CW2_LARGE_INTESTINE | 51158612 | 51160865 | 51159933 | 51159933 | Frame_Shift_Del | G | - | p.L1210fs |
| LS411N_LARGE_INTESTINE | 51158612 | 51160865 | 51159933 | 51159933 | Frame_Shift_Del | G | - | p.L1210fs |
| HEC151_ENDOMETRIUM | 51158612 | 51160865 | 51160682 | 51160682 | Frame_Shift_Del | G | - | p.W1460fs |
| SNU1_STOMACH | 51158612 | 51160865 | 51159932 | 51159933 | Frame_Shift_Ins | - | GG | p.LG1210fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51160296 | 51160297 | Frame_Shift_Ins | - | C | p.P1332fs |
| GP2D_LARGE_INTESTINE | 51135992 | 51136143 | 51136114 | 51136114 | Missense_Mutation | T | C | p.I476T |
| OC316_OVARY | 51158612 | 51160865 | 51158738 | 51158738 | Missense_Mutation | C | T | p.A812V |
| HCC2450_LUNG | 51158612 | 51160865 | 51158756 | 51158756 | Missense_Mutation | C | T | p.S818L |
| RL952_ENDOMETRIUM | 51158612 | 51160865 | 51158927 | 51158927 | Missense_Mutation | C | T | p.A875V |
| MFE319_ENDOMETRIUM | 51158612 | 51160865 | 51158929 | 51158929 | Missense_Mutation | C | T | p.R876C |
| HEC6_ENDOMETRIUM | 51158612 | 51160865 | 51159092 | 51159092 | Missense_Mutation | C | T | p.P930L |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51159101 | 51159101 | Missense_Mutation | C | T | p.P933L |
| NCIH1048_LUNG | 51158612 | 51160865 | 51159274 | 51159274 | Missense_Mutation | C | G | p.P991A |
| HEC6_ENDOMETRIUM | 51158612 | 51160865 | 51159369 | 51159369 | Missense_Mutation | G | T | p.E1022D |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51159427 | 51159427 | Missense_Mutation | C | T | p.R1042C |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51159428 | 51159428 | Missense_Mutation | G | A | p.R1042H |
| NCIH630_LARGE_INTESTINE | 51158612 | 51160865 | 51159548 | 51159548 | Missense_Mutation | C | A | p.P1082Q |
| YD38_UPPER_AERODIGESTIVE_TRACT | 51158612 | 51160865 | 51159593 | 51159593 | Missense_Mutation | C | T | p.A1097V |
| HEC108_ENDOMETRIUM | 51158612 | 51160865 | 51159599 | 51159599 | Missense_Mutation | C | T | p.A1099V |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51159637 | 51159637 | Missense_Mutation | C | T | p.R1112W |
| SKUT1_SOFT_TISSUE | 51158612 | 51160865 | 51159637 | 51159637 | Missense_Mutation | C | T | p.R1112W |
| HCT116_LARGE_INTESTINE | 51158612 | 51160865 | 51159673 | 51159673 | Missense_Mutation | C | T | p.R1124C |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51159712 | 51159712 | Missense_Mutation | C | T | p.P1137S |
| CL34_LARGE_INTESTINE | 51158612 | 51160865 | 51159770 | 51159770 | Missense_Mutation | C | A | p.P1156H |
| CHLA9_BONE | 51158612 | 51160865 | 51159820 | 51159820 | Missense_Mutation | T | A | p.S1173T |
| NCIH446_LUNG | 51158612 | 51160865 | 51159859 | 51159859 | Missense_Mutation | G | T | p.D1186Y |
| NB17_AUTONOMIC_GANGLIA | 51158612 | 51160865 | 51159929 | 51159929 | Missense_Mutation | G | T | p.R1209M |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 51158612 | 51160865 | 51159965 | 51159965 | Missense_Mutation | C | T | p.P1221L |
| DV90_LUNG | 51158612 | 51160865 | 51160141 | 51160141 | Missense_Mutation | G | A | p.D1280N |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 51158612 | 51160865 | 51160169 | 51160169 | Missense_Mutation | G | A | p.R1289Q |
| MFE319_ENDOMETRIUM | 51158612 | 51160865 | 51160171 | 51160171 | Missense_Mutation | A | G | p.I1290V |
| 639V_URINARY_TRACT | 51158612 | 51160865 | 51160183 | 51160183 | Missense_Mutation | C | T | p.P1294S |
| HEC1A_ENDOMETRIUM | 51158612 | 51160865 | 51160190 | 51160190 | Missense_Mutation | C | T | p.P1296L |
| GP2D_LARGE_INTESTINE | 51158612 | 51160865 | 51160213 | 51160213 | Missense_Mutation | C | A | p.L1304M |
| GP5D_LARGE_INTESTINE | 51158612 | 51160865 | 51160213 | 51160213 | Missense_Mutation | C | A | p.L1304M |
| NCIH526_LUNG | 51158612 | 51160865 | 51160262 | 51160262 | Missense_Mutation | C | T | p.P1320L |
| CHAGOK1_LUNG | 51158612 | 51160865 | 51160274 | 51160274 | Missense_Mutation | C | T | p.S1324L |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51160334 | 51160334 | Missense_Mutation | A | G | p.E1344G |
| SNU175_LARGE_INTESTINE | 51158612 | 51160865 | 51160349 | 51160349 | Missense_Mutation | G | A | p.R1349H |
| HCT116_LARGE_INTESTINE | 51158612 | 51160865 | 51160361 | 51160361 | Missense_Mutation | A | G | p.D1353G |
| CAL54_KIDNEY | 51158612 | 51160865 | 51160571 | 51160571 | Missense_Mutation | C | T | p.S1423F |
| NCIH513_PLEURA | 51158612 | 51160865 | 51160651 | 51160651 | Missense_Mutation | C | T | p.R1450C |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51158612 | 51160865 | 51160703 | 51160703 | Missense_Mutation | G | A | p.R1467Q |
| HEC59_ENDOMETRIUM | 51158612 | 51160865 | 51160786 | 51160786 | Missense_Mutation | C | T | p.R1495C |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 51158612 | 51160865 | 51160862 | 51160862 | Missense_Mutation | C | T | p.A1520V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SHANK3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SHANK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SHANK3 |
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RelatedDrugs for SHANK3 |
| 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 SHANK3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SHANK3 | C0004352 | Autistic Disorder | 2 | CTD_human |
| SHANK3 | C0023014 | Language Development Disorders | 2 | CTD_human |
| SHANK3 | C1510586 | Autism Spectrum Disorders | 2 | CTD_human |
| SHANK3 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| SHANK3 | C0338831 | Manic | 1 | PSYGENET |
| SHANK3 | C0564408 | Manic mood | 1 | PSYGENET |
| SHANK3 | C1853490 | 22q13.3 Deletion Syndrome | 1 | ORPHANET;UNIPROT |
| SHANK3 | C3151380 | SCHIZOPHRENIA 15 | 1 | UNIPROT |
| SHANK3 | C3714756 | Intellectual Disability | 1 | CTD_human |
| SHANK3 | C4048800 | Telomeric 22q13 Monosomy Syndrome | 1 | CTD_human |
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