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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 DOCK8 |
Gene summary |
| Gene information | Gene symbol | DOCK8 | Gene ID | 81704 |
| Gene name | dedicator of cytokinesis 8 | |
| Synonyms | HEL-205|MRD2|ZIR8 | |
| Cytomap | 9p24.3 | |
| Type of gene | protein-coding | |
| Description | dedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8NF50 | |
| Context | PubMed: DOCK8 [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 |
| DOCK8 | GO:0043547 | positive regulation of GTPase activity | 28028151 |
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Exon skipping events across known transcript of Ensembl for DOCK8 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 DOCK8 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DOCK8 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494633 | 9 | 214864:215029:220747:220863:271626:271729 | 220747:220863 | ENSG00000107099.11 | ENST00000524396.1 |
| exon_skip_494634 | 9 | 214867:215029:271626:271729:286460:286636 | 271626:271729 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000454469.2 |
| exon_skip_494636 | 9 | 215170:215416:271626:271729:286460:286636 | 271626:271729 | ENSG00000107099.11 | ENST00000479404.1 |
| exon_skip_494642 | 9 | 273083:273100:280790:280905:286460:286636 | 280790:280905 | ENSG00000107099.11 | ENST00000487230.1 |
| exon_skip_494644 | 9 | 289509:289581:304580:304704:311953:312166 | 304580:304704 | ENSG00000107099.11 | ENST00000524396.1,ENST00000382341.1,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000454469.2,ENST00000478380.1 |
| exon_skip_494646 | 9 | 311957:312166:317042:317128:325670:325737 | 317042:317128 | ENSG00000107099.11 | ENST00000524396.1,ENST00000382341.1,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000454469.2 |
| exon_skip_494647 | 9 | 334224:334384:336581:336718:339005:339099 | 336581:336718 | ENSG00000107099.11 | ENST00000524396.1,ENST00000382341.1,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000454469.2 |
| exon_skip_494648 | 9 | 340158:340321:365590:366552:368017:368135 | 365590:366552 | ENSG00000107099.11 | ENST00000483757.1 |
| exon_skip_494649 | 9 | 368017:368135:369221:369447:370229:370300 | 369221:369447 | ENSG00000107099.11 | ENST00000483757.1 |
| exon_skip_494650 | 9 | 370229:370300:371427:371566:372184:372286 | 371427:371566 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494652 | 9 | 376976:377211:379770:379935:382512:382685 | 379770:379935 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000382331.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494653 | 9 | 382512:382685:386330:386426:390470:390518 | 386330:386426 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000382331.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494655 | 9 | 386330:386426:390470:390566:396784:396934 | 390470:390566 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000382331.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494656 | 9 | 399145:399259:404917:405073:406929:407069 | 404917:405073 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494657 | 9 | 420400:420583:420948:421078:422047:422135 | 420948:421078 | ENSG00000107099.11 | ENST00000493666.2,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494659 | 9 | 428361:428496:429701:429854:432165:432324 | 429701:429854 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494660 | 9 | 443426:443516:446369:446606:449783:449927 | 446369:446606 | ENSG00000107099.11 | ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DOCK8 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494634 | 9 | 214867:215029:271626:271729:286460:286636 | 271626:271729 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000454469.2 |
| exon_skip_494636 | 9 | 215170:215416:271626:271729:286460:286636 | 271626:271729 | ENSG00000107099.11 | ENST00000479404.1 |
| exon_skip_494642 | 9 | 273083:273100:280790:280905:286460:286636 | 280790:280905 | ENSG00000107099.11 | ENST00000487230.1 |
| exon_skip_494643 | 9 | 276993:277086:284374:284567:286460:286636 | 284374:284567 | ENSG00000107099.11 | ENST00000469197.1 |
| exon_skip_494644 | 9 | 289509:289581:304580:304704:311953:312166 | 304580:304704 | ENSG00000107099.11 | ENST00000524396.1,ENST00000453981.1,ENST00000432829.2,ENST00000454469.2,ENST00000382341.1,ENST00000483757.1,ENST00000478380.1,ENST00000469391.1,ENST00000495184.1 |
| exon_skip_494646 | 9 | 311957:312166:317042:317128:325670:325737 | 317042:317128 | ENSG00000107099.11 | ENST00000524396.1,ENST00000453981.1,ENST00000432829.2,ENST00000454469.2,ENST00000382341.1,ENST00000483757.1,ENST00000469391.1,ENST00000495184.1 |
| exon_skip_494647 | 9 | 334224:334384:336581:336718:339005:339099 | 336581:336718 | ENSG00000107099.11 | ENST00000524396.1,ENST00000453981.1,ENST00000432829.2,ENST00000454469.2,ENST00000382341.1,ENST00000483757.1,ENST00000469391.1,ENST00000495184.1 |
| exon_skip_494648 | 9 | 340158:340321:365590:366552:368017:368135 | 365590:366552 | ENSG00000107099.11 | ENST00000483757.1 |
| exon_skip_494649 | 9 | 368017:368135:369221:369447:370229:370300 | 369221:369447 | ENSG00000107099.11 | ENST00000483757.1 |
| exon_skip_494650 | 9 | 370229:370300:371427:371566:372184:372286 | 371427:371566 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000483757.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494652 | 9 | 376976:377211:379770:379935:382512:382685 | 379770:379935 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382331.1,ENST00000382329.1 |
| exon_skip_494653 | 9 | 382512:382685:386330:386426:390470:390518 | 386330:386426 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000495184.1,ENST00000382331.1,ENST00000382329.1 |
| exon_skip_494656 | 9 | 399145:399259:404917:405073:406929:407069 | 404917:405073 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494657 | 9 | 420400:420583:420948:421078:422047:422135 | 420948:421078 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1,ENST00000493666.2 |
| exon_skip_494659 | 9 | 428361:428496:429701:429854:432165:432324 | 429701:429854 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
| exon_skip_494660 | 9 | 443426:443516:446369:446606:449783:449927 | 446369:446606 | ENSG00000107099.11 | ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DOCK8 |
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 |
| ENST00000432829 | 271626 | 271729 | 5UTR-5UTR |
| ENST00000432829 | 304580 | 304704 | Frame-shift |
| ENST00000432829 | 317042 | 317128 | Frame-shift |
| ENST00000432829 | 336581 | 336718 | Frame-shift |
| ENST00000432829 | 371427 | 371566 | Frame-shift |
| ENST00000432829 | 420948 | 421078 | Frame-shift |
| ENST00000432829 | 379770 | 379935 | In-frame |
| ENST00000432829 | 386330 | 386426 | In-frame |
| ENST00000432829 | 390470 | 390566 | In-frame |
| ENST00000432829 | 404917 | 405073 | In-frame |
| ENST00000432829 | 429701 | 429854 | In-frame |
| ENST00000432829 | 446369 | 446606 | 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 |
| ENST00000432829 | 271626 | 271729 | 5UTR-5UTR |
| ENST00000432829 | 304580 | 304704 | Frame-shift |
| ENST00000432829 | 317042 | 317128 | Frame-shift |
| ENST00000432829 | 336581 | 336718 | Frame-shift |
| ENST00000432829 | 371427 | 371566 | Frame-shift |
| ENST00000432829 | 420948 | 421078 | Frame-shift |
| ENST00000432829 | 379770 | 379935 | In-frame |
| ENST00000432829 | 386330 | 386426 | In-frame |
| ENST00000432829 | 404917 | 405073 | In-frame |
| ENST00000432829 | 429701 | 429854 | In-frame |
| ENST00000432829 | 446369 | 446606 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DOCK8 |
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 |
| ENST00000432829 | 7469 | 2099 | 379770 | 379935 | 2553 | 2717 | 745 | 800 |
| ENST00000432829 | 7469 | 2099 | 386330 | 386426 | 2891 | 2986 | 858 | 890 |
| ENST00000432829 | 7469 | 2099 | 390470 | 390566 | 2987 | 3082 | 890 | 922 |
| ENST00000432829 | 7469 | 2099 | 404917 | 405073 | 3347 | 3502 | 1010 | 1062 |
| ENST00000432829 | 7469 | 2099 | 429701 | 429854 | 4586 | 4738 | 1423 | 1474 |
| ENST00000432829 | 7469 | 2099 | 446369 | 446606 | 5693 | 5929 | 1792 | 1871 |
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 |
| ENST00000432829 | 7469 | 2099 | 379770 | 379935 | 2553 | 2717 | 745 | 800 |
| ENST00000432829 | 7469 | 2099 | 386330 | 386426 | 2891 | 2986 | 858 | 890 |
| ENST00000432829 | 7469 | 2099 | 404917 | 405073 | 3347 | 3502 | 1010 | 1062 |
| ENST00000432829 | 7469 | 2099 | 429701 | 429854 | 4586 | 4738 | 1423 | 1474 |
| ENST00000432829 | 7469 | 2099 | 446369 | 446606 | 5693 | 5929 | 1792 | 1871 |
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 DOCK8 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_494650 | 371428 | 371566 | 371453 | 371453 | Frame_Shift_Del | A | - | p.K564fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_494650 | 371428 | 371566 | 371464 | 371464 | Frame_Shift_Del | C | - | p.L567fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_494656 | 404918 | 405073 | 405015 | 405016 | Frame_Shift_Del | TT | - | p.1011_1011del |
| KICH | TCGA-KL-8330-01 | exon_skip_494656 | 404918 | 405073 | 405015 | 405015 | Frame_Shift_Del | T | - | p.L1111fs |
| KICH | TCGA-KL-8339-01 | exon_skip_494656 | 404918 | 405073 | 405015 | 405015 | Frame_Shift_Del | T | - | p.L1111fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_494656 | 404918 | 405073 | 405015 | 405015 | Frame_Shift_Del | T | - | p.L1111fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_494656 | 404918 | 405073 | 405015 | 405015 | Frame_Shift_Del | T | - | p.L1111fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_494657 | 420949 | 421078 | 420977 | 420977 | Frame_Shift_Del | C | - | p.T1283fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_494657 | 420949 | 421078 | 421036 | 421036 | Frame_Shift_Del | G | - | p.G1303fs |
| BRCA | TCGA-A8-A06U-01 | exon_skip_494659 | 429702 | 429854 | 429793 | 429793 | Frame_Shift_Del | C | - | p.R1455fs |
| LUAD | TCGA-44-6774-01 | exon_skip_494656 | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.F1043fs |
| STAD | TCGA-BR-4361-01 | exon_skip_494656 | 404918 | 405073 | 405015 | 405016 | Frame_Shift_Ins | - | T | p.L1111fs |
| HNSC | TCGA-CV-7423-01 | exon_skip_494660 | 446370 | 446606 | 446516 | 446517 | Frame_Shift_Ins | - | CA | p.*1842fs |
| HNSC | TCGA-CV-7423-01 | exon_skip_494660 | 446370 | 446606 | 446516 | 446517 | Frame_Shift_Ins | - | CA | p.L1909fs |
| BLCA | TCGA-GC-A3WC-01 | exon_skip_494647 | 336582 | 336718 | 336580 | 336580 | Splice_Site | A | T | p.G429_splice |
- 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 |
| HCT116_LARGE_INTESTINE | 304581 | 304704 | 304612 | 304612 | Frame_Shift_Del | A | - | p.K147fs |
| HEC251_ENDOMETRIUM | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.L1111fs |
| LS411N_LARGE_INTESTINE | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.L1111fs |
| HCC1937_BREAST | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.L1111fs |
| JHOM2B_OVARY | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.L1111fs |
| MDAPCA2B_PROSTATE | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.L1111fs |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 404918 | 405073 | 405014 | 405015 | Frame_Shift_Ins | - | T | p.L1111fs |
| KYSE70_OESOPHAGUS | 271627 | 271729 | 271668 | 271668 | Missense_Mutation | C | A | p.P32Q |
| LU165_LUNG | 304581 | 304704 | 304588 | 304588 | Missense_Mutation | G | A | p.G138R |
| EVSAT_BREAST | 317043 | 317128 | 317126 | 317126 | Missense_Mutation | G | C | p.L275F |
| NCIH889_LUNG | 336582 | 336718 | 336602 | 336602 | Missense_Mutation | C | T | p.R436W |
| EN_ENDOMETRIUM | 336582 | 336718 | 336605 | 336605 | Missense_Mutation | A | G | p.R437G |
| 647V_URINARY_TRACT | 371428 | 371566 | 371502 | 371502 | Missense_Mutation | C | T | p.T648I |
| GB1_CENTRAL_NERVOUS_SYSTEM | 379771 | 379935 | 379800 | 379800 | Missense_Mutation | G | A | p.V824M |
| SNUC2A_LARGE_INTESTINE | 379771 | 379935 | 379858 | 379858 | Missense_Mutation | G | T | p.G843V |
| SNUC2B_LARGE_INTESTINE | 379771 | 379935 | 379858 | 379858 | Missense_Mutation | G | T | p.G843V |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 386331 | 386426 | 386339 | 386339 | Missense_Mutation | T | A | p.D929E |
| CAR1_LARGE_INTESTINE | 386331 | 386426 | 386357 | 386357 | Missense_Mutation | G | A | p.M935I |
| NCIH650_LUNG | 390471 | 390566 | 390561 | 390561 | Missense_Mutation | C | A | p.L989I |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 404918 | 405073 | 404943 | 404943 | Missense_Mutation | C | T | p.P1087L |
| LNCAPCLONEFGC_PROSTATE | 404918 | 405073 | 404966 | 404966 | Missense_Mutation | G | A | p.E1095K |
| SNU1040_LARGE_INTESTINE | 404918 | 405073 | 404995 | 404995 | Missense_Mutation | G | T | p.E1104D |
| COLO320_LARGE_INTESTINE | 420949 | 421078 | 420959 | 420959 | Missense_Mutation | G | T | p.S1345I |
| NCIH630_LARGE_INTESTINE | 420949 | 421078 | 420974 | 420974 | Missense_Mutation | G | A | p.S1350N |
| KYSE520_OESOPHAGUS | 420949 | 421078 | 421033 | 421033 | Missense_Mutation | C | T | p.R1370C |
| SNU1040_LARGE_INTESTINE | 420949 | 421078 | 421067 | 421067 | Missense_Mutation | G | A | p.R1381H |
| JHUEM7_ENDOMETRIUM | 429702 | 429854 | 429796 | 429796 | Missense_Mutation | G | A | p.R1523Q |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 429702 | 429854 | 429829 | 429829 | Missense_Mutation | T | C | p.M1534T |
| COLO205_LARGE_INTESTINE | 429702 | 429854 | 429842 | 429842 | Missense_Mutation | T | G | p.F1538L |
| HEC251_ENDOMETRIUM | 446370 | 446606 | 446444 | 446444 | Missense_Mutation | G | T | p.E1885D |
| CW2_LARGE_INTESTINE | 446370 | 446606 | 446499 | 446499 | Missense_Mutation | C | T | p.R1904W |
| FTC238_THYROID | 404918 | 405073 | 404966 | 404966 | Nonsense_Mutation | G | T | p.E1095* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK8 |
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_494649 | 9 | 368017:368135:369221:369447:370229:370300 | 369221:369447 | ENST00000483757.1 | LAML | rs750871 | chr9:369323 | A/G | 1.63e-04 |
| exon_skip_494636 | 9 | 215170:215416:271626:271729:286460:286636 | 271626:271729 | ENST00000479404.1 | BRCA | rs506121 | chr9:271638 | A/G | 1.46e-04 |
| exon_skip_494634 | 9 | 214867:215029:271626:271729:286460:286636 | 271626:271729 | ENST00000432829.2,ENST00000453981.1,ENST00000454469.2 | BRCA | rs506121 | chr9:271638 | A/G | 1.46e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK8 |
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RelatedDrugs for DOCK8 |
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 DOCK8 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DOCK8 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| DOCK8 | C0027819 | Neuroblastoma | 1 | CTD_human |
| DOCK8 | C1968689 | Hyper-Immunoglobulin E Syndrome, Autosomal Recessive | 1 | ORPHANET;UNIPROT |
| DOCK8 | C3714756 | Intellectual Disability | 1 | CTD_human |