 |
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| asphyxiating thoracic dystrophy | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
|
|
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology Annotations
|
|
|
|
|
|
|
Phenotype Annotations
|
|
|
References - curated| 1. | OMIM Disease Annotation Pipeline |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
| 4. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 5. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
References - uncurated| PubMed | 15164053 15489334 19521662 20360068 21873635 21900206 21953912 23568457 24144296 24183449 24183451 25205765 25416956 25830415 26186194 26496610 26638075 26673895 27173435 27432908 28514442 29117863 29278705 30320547 30649997 |
Comparative Map Data| WDR34 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wdr34 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wdr34 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wdr34 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WDR34 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WDR34 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wdr34 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WDR34 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| SHGC-8025 |
|
|||||||||||||||||||||||||||||||||||
| RH12836 |
|
|||||||||||||||||||||||||||||||||||
| A006J25 |
|
|||||||||||||||||||||||||||||||||||
| RH45959 |
|
miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
Nucleotide Sequences| RefSeq Transcripts | NG_034056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_052844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011519179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK302098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AL356481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL555205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC001614 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC011874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG177634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI910783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_052844 ⟹ NP_443076 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
GGAGGCGCTGCGACCAATTCAAACATGGCGCCGTCAGCCTCACATTCCCCGTTTTCCGCTCATGhide sequence |
| RefSeq Acc Id: | XM_011519179 ⟹ XP_011517481 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGCGTAGGGGCGGAGGTCGCGCCTGAGTGCGTCCGCACGAGAGGGCGGAACCGTCTCCATGGCAhide sequence |
Protein Sequences| Protein RefSeqs | NP_443076 | (Get FASTA) | NCBI Sequence Viewer |
| XP_011517481 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH01614 | (Get FASTA) | NCBI Sequence Viewer |
| AAH11874 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG63480 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW87814 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW87815 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW87816 | (Get FASTA) | NCBI Sequence Viewer | |
| Q96EX3 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_443076 ⟸ NM_052844 |
| - UniProtKB: | Q96EX3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLGVASVPSQWRAVQGIRWETKShide sequence |
| RefSeq Acc Id: | XP_011517481 ⟸ XM_011519179 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLGVASVPSQWRAVQGIRWETKShide sequence |
Promoters| RGD ID: | 7216299 | |||||||||
| Promoter ID: | EPDNEW_H13895 | |||||||||
| Type: | initiation region | |||||||||
| Name: | WDR34_1 | |||||||||
| Description: | WD repeat domain 34 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6808412 | |||||||||
| Promoter ID: | HG_KWN:65163 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000054462 | |||||||||
| Position: |
|
| RGD ID: | 6808413 | |||||||||
| Promoter ID: | HG_KWN:65166 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | NM_052844, OTTHUMT00000054459, OTTHUMT00000054460, OTTHUMT00000054464, UC004BVR.1, UC004BVS.1 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_052844.3(WDR34):c.630G>A (p.Pro210=) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000553026] | Chr9:128636354 [GRCh38] Chr9:131398633 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.1372+10G>C | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000554373] | Chr9:128634216 [GRCh38] Chr9:131396495 [GRCh37] Chr9:9q34.11 |
likely benign |
| NM_052844.3(WDR34):c.957G>A (p.Leu319=) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000543759] | Chr9:128635116 [GRCh38] Chr9:131397395 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.544C>T (p.Arg182Trp) | single nucleotide variant | Jeune thoracic dystrophy [RCV000515869] | Chr9:128636919 [GRCh38] Chr9:131399198 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1567_1582del (p.Glu523fs) | deletion | Jeune thoracic dystrophy [RCV000516036] | Chr9:128633773..128633788 [GRCh38] Chr9:131396052..131396067 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| NM_052844.3(WDR34):c.1060A>G (p.Thr354Ala) | single nucleotide variant | Short-rib polydactyly syndrome type III [RCV000515970] | Chr9:128634843 [GRCh38] Chr9:131397122 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.187-3C>A | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000542851] | Chr9:128640942 [GRCh38] Chr9:131403221 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.1022C>T (p.Ala341Val) | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083283]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083283] | Chr9:128634881 [GRCh38] Chr9:131397160 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1061C>T (p.Thr354Met) | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083284]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083284] | Chr9:128634842 [GRCh38] Chr9:131397121 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp) | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083285]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083285] | Chr9:128634259 [GRCh38] Chr9:131396538 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln) | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083286]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083286] | Chr9:128634258 [GRCh38] Chr9:131396537 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.982-2A>C | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083287]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083287] | Chr9:128634923 [GRCh38] Chr9:131397202 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) | single nucleotide variant | Jeune thoracic dystrophy [RCV000515829]|SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083288]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083288]|not provided [RCV000730552] | Chr9:128634726 [GRCh38] Chr9:131397005 [GRCh37] Chr9:9q34.11 |
pathogenic|uncertain significance |
| NM_052844.3(WDR34):c.1539_1540CA[1] (p.Thr514fs) | microsatellite | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083289]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083289] | Chr9:128633813..128633814 [GRCh38] Chr9:131396092..131396093 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.472C>T (p.Gln158Ter) | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083290]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083290] | Chr9:128636991 [GRCh38] Chr9:131399270 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg) | single nucleotide variant | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY [RCV000083291]|Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000083291] | Chr9:128634291 [GRCh38] Chr9:131396570 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 | copy number loss | Hepatomegaly [RCV000052923]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052924]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052924]|See cases [RCV000052923] | Chr9:125993583..129682375 [GRCh38] Chr9:128755862..132444654 [GRCh37] Chr9:127795683..131484475 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
| GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 | copy number loss | Global developmental delay [RCV000052934]|See cases [RCV000052934] | Chr9:127874581..130421811 [GRCh38] Chr9:130636860..133297198 [GRCh37] Chr9:129676681..132287019 [NCBI36] Chr9:9q34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 | copy number gain | Dandy-Walker syndrome [RCV000053777]|See cases [RCV000053777] | Chr9:127919476..130079974 [GRCh38] Chr9:130681755..132842253 [GRCh37] Chr9:129721576..131882074 [NCBI36] Chr9:9q34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 | copy number loss | See cases [RCV000138126] | Chr9:128610170..129368351 [GRCh38] Chr9:131372449..132130630 [GRCh37] Chr9:130412270..131170451 [NCBI36] Chr9:9q34.11 |
uncertain significance |
| GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 | copy number loss | See cases [RCV000137787] | Chr9:125055865..128637946 [GRCh38] Chr9:127818144..131400225 [GRCh37] Chr9:126857965..130440046 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1 | copy number loss | See cases [RCV000138929] | Chr9:128236347..128912067 [GRCh38] Chr9:130998626..131674346 [GRCh37] Chr9:130038447..130714167 [NCBI36] Chr9:9q34.11 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_052844.3(WDR34):c.1397A>C (p.Gln466Pro) | single nucleotide variant | Short-rib polydactyly syndrome type III [RCV000516074] | Chr9:128633958 [GRCh38] Chr9:131396237 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.814-5C>G | single nucleotide variant | not specified [RCV000578610] | Chr9:128635264 [GRCh38] Chr9:131397543 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| NM_052844.3(WDR34):c.1480C>T (p.Gln494Ter) | single nucleotide variant | Jeune thoracic dystrophy [RCV000515944] | Chr9:128633875 [GRCh38] Chr9:131396154 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1066G>A (p.Gly356Ser) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000524922] | Chr9:128634837 [GRCh38] Chr9:131397116 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_052844.3(WDR34):c.1489_1490insCAGCA (p.Leu497fs) | insertion | not provided [RCV000723036] | Chr9:128633865..128633866 [GRCh38] Chr9:131396144..131396145 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| NM_052844.3(WDR34):c.1424T>C (p.Leu475Ser) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000532673] | Chr9:128633931 [GRCh38] Chr9:131396210 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| NM_052844.3(WDR34):c.392C>T (p.Ala131Val) | single nucleotide variant | not provided [RCV000488412] | Chr9:128640734 [GRCh38] Chr9:131403013 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 | copy number loss | See cases [RCV000445837] | Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1 | copy number loss | not provided [RCV000509562] | Chr9:131184326..131503894 [GRCh37] Chr9:9q34.11 |
not provided |
| NM_052844.3(WDR34):c.1008C>T (p.Gly336=) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000555716] | Chr9:128634895 [GRCh38] Chr9:131397174 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.1146C>T (p.Ala382=) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000539621] | Chr9:128634757 [GRCh38] Chr9:131397036 [GRCh37] Chr9:9q34.11 |
likely benign |
| NM_052844.3(WDR34):c.873C>T (p.Thr291=) | single nucleotide variant | not specified [RCV000602434] | Chr9:128635200 [GRCh38] Chr9:131397479 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.178T>G (p.Trp60Gly) | single nucleotide variant | not specified [RCV000601381] | Chr9:128656549 [GRCh38] Chr9:131418828 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.1506T>C (p.Asp502=) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000652004] | Chr9:128633849 [GRCh38] Chr9:131396128 [GRCh37] Chr9:9q34.11 |
likely benign |
| NM_052844.3(WDR34):c.309T>C (p.Tyr103=) | single nucleotide variant | not specified [RCV000610213] | Chr9:128640817 [GRCh38] Chr9:131403096 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.888A>G (p.Leu296=) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000533564] | Chr9:128635185 [GRCh38] Chr9:131397464 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.627G>A (p.Gln209=) | single nucleotide variant | not specified [RCV000613929] | Chr9:128636357 [GRCh38] Chr9:131398636 [GRCh37] Chr9:9q34.11 |
benign |
| NM_052844.3(WDR34):c.935T>C (p.Phe312Ser) | single nucleotide variant | Jeune thoracic dystrophy [RCV000515969] | Chr9:128635138 [GRCh38] Chr9:131397417 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NC_000009.11:g.(?_131394406)_(131403218_?)del | deletion | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000707899] | Chr9:128632127..128640939 [GRCh38] Chr9:131394406..131403218 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NC_000009.11:g.(?_131386587)_(131399326_?)dup | duplication | Early infantile epileptic encephalopathy [RCV000708092] | Chr9:128624308..128637047 [GRCh38] Chr9:131386587..131399326 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| NM_052844.3(WDR34):c.26del (p.Pro9fs) | deletion | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000699148] | Chr9:128656701 [GRCh38] Chr9:131418980 [GRCh37] Chr9:9q34.11 |
pathogenic |
| NM_052844.3(WDR34):c.1499C>T (p.Ala500Val) | single nucleotide variant | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000690084] | Chr9:128633856 [GRCh38] Chr9:131396135 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 | copy number loss | not provided [RCV000748671] | Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12 |
pathogenic |
| GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 | copy number loss | not provided [RCV000748677] | Chr9:129522693..131410039 [GRCh37] Chr9:9q33.3-34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131406739-131413853)x0 | copy number loss | not provided [RCV000748692] | Chr9:131406739..131413853 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131410039-131452613)x3 | copy number gain | not provided [RCV000748693] | Chr9:131410039..131452613 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131410039-131455760)x0 | copy number loss | not provided [RCV000748694] | Chr9:131410039..131455760 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131412549-131452561)x0 | copy number loss | not provided [RCV000748695] | Chr9:131412549..131452561 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131412549-131452672)x0 | copy number loss | not provided [RCV000748696] | Chr9:131412549..131452672 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131412549-131455760)x0 | copy number loss | not provided [RCV000748697] | Chr9:131412549..131455760 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131413885-131452561)x3 | copy number gain | not provided [RCV000748698] | Chr9:131413885..131452561 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 | copy number loss | not provided [RCV000748699] | Chr9:131413885..133866894 [GRCh37] Chr9:9q34.11-34.12 |
benign |
| GRCh37/hg19 9q34.11(chr9:131418828-131452561)x0 | copy number loss | not provided [RCV000748700] | Chr9:131418828..131452561 [GRCh37] Chr9:9q34.11 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_052844.3(WDR34):c.1312_1313del (p.Leu438fs) | deletion | Short-rib thoracic dysplasia 11 with or without polydactyly [RCV000824376] | Chr9:128634286..128634287 [GRCh38] Chr9:131396564..131396565 [GRCh37] Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:28296 | AgrOrtholog |
| COSMIC | WDR34 | COSMIC |
| Ensembl Genes | ENSG00000119333 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000361800 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000411370 | UniProtKB/TrEMBL | |
| ENSP00000415421 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000372715 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000419989 | UniProtKB/TrEMBL | |
| ENST00000451652 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000119333 | GTEx |
| HGNC ID | HGNC:28296 | ENTREZGENE |
| Human Proteome Map | WDR34 | Human Proteome Map |
| InterPro | WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot |
| WD40_repeat | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:89891 | UniProtKB/Swiss-Prot |
| NCBI Gene | 89891 | ENTREZGENE |
| OMIM | 613363 | OMIM |
| 615633 | OMIM | |
| Pfam | WD40 | UniProtKB/Swiss-Prot |
| PharmGKB | PA134951680 | PharmGKB |
| PROSITE | WD_REPEATS_REGION | UniProtKB/Swiss-Prot |
| SMART | WD40 | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF50978 | UniProtKB/Swiss-Prot |
| UniGene | Hs.495240 | ENTREZGENE |
| UniProt | A2A3F8_HUMAN | UniProtKB/TrEMBL |
| A2A3F9_HUMAN | UniProtKB/TrEMBL | |
| Q96EX3 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | Q5VXV4 | UniProtKB/Swiss-Prot |
| Q9BV46 | UniProtKB/Swiss-Prot |
 |
| More on WDR34 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1342520 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
 |
 |
 |
 |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
