TRAJ3 (T cell receptor alpha joining 3) - Rat Genome Database

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Gene: TRAJ3 (T cell receptor alpha joining 3) Homo sapiens
Analyze
Symbol: TRAJ3
Name: T cell receptor alpha joining 3
RGD ID: 1346062
HGNC Page HGNC:12059
Description: Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex.
Type: gene (Ensembl: TR_J_gene)
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381422,543,179 - 22,543,240 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1422,543,179 - 22,543,240 (+)EnsemblGRCh38hg38GRCh38
GRCh371423,012,122 - 23,012,183 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361422,081,962 - 22,082,023 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,875,134 - 2,875,195 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef143,130,334 - 3,130,395 (+)NCBIHuRef
CHM1_11423,011,081 - 23,011,142 (+)NCBICHM1_1
T2T-CHM13v2.01416,740,926 - 16,740,987 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References
Additional References at PubMed
PMID:2993909   PMID:8188290  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3 copy number gain See cases [RCV000140829] Chr14:21010790..22951814 [GRCh38]
Chr14:21478949..23421023 [GRCh37]
Chr14:20548789..22490863 [NCBI36]
Chr14:14q11.2		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 copy number loss See cases [RCV000051483] Chr14:19755249..22741281 [GRCh38]
Chr14:20223408..23210490 [GRCh37]
Chr14:19293248..22280330 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 copy number gain See cases [RCV000050914] Chr14:20151149..23442195 [GRCh38]
Chr14:20619308..23911404 [GRCh37]
Chr14:19689148..22981244 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2(chr14:22021664-22592708)x1 copy number loss See cases [RCV000053682] Chr14:22021664..22592708 [GRCh38]
Chr14:22489904..23061615 [GRCh37]
Chr14:21559744..22131455 [NCBI36]
Chr14:14q11.2		 benign
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:190
Count of miRNA genes:177
Interacting mature miRNAs:188
Transcripts:ENST00000390534
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
humtcajc  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371423,011,367 - 23,011,796UniSTSGRCh37
Build 361422,081,207 - 22,081,636RGDNCBI36
Celera142,874,379 - 2,874,808RGD
Cytogenetic Map14q11UniSTS
Cytogenetic Map14q11.2UniSTS
HuRef143,129,579 - 3,130,008UniSTS
GeneMap99-GB4 RH Map1414.11UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 1 13 7 2 153 2 1 1 2
Low 203 504 159 81 922 75 151 42 39 64 85 213 7 102 70
Below cutoff 40 68 13 6 73 1 25 20 22 2 5 17 5 16 15

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390534   ⟹   ENSP00000451699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1422,543,179 - 22,543,240 (+)Ensembl
Protein Sequences
GenBank Protein A0A075B6Y3 (Get FASTA)   NCBI Sequence Viewer  
  AAB86791 (Get FASTA)   NCBI Sequence Viewer  
  EAW66257 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000451699.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000451699   ⟸   ENST00000390534

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A075B6Y3-F1-model_v2 AlphaFold A0A075B6Y3 1-20 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC TRAJ3 COSMIC
Ensembl Genes ENSG00000211886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390534.1 UniProtKB/Swiss-Prot
GTEx ENSG00000211886 GTEx
HGNC ID HGNC:12059 ENTREZGENE
Human Proteome Map TRAJ3 Human Proteome Map
NCBI Gene TRAJ3 ENTREZGENE
PharmGKB PA36736 PharmGKB
UniProt A0A075B6Y3 ENTREZGENE, UniProtKB/Swiss-Prot