TRBJ1-2 (T cell receptor beta joining 1-2) - Chinchilla Research Resource Database

Gene: TRBJ1-2 (T cell receptor beta joining 1-2) Homo sapiens

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Symbol:

TRBJ1-2

Name:

T cell receptor beta joining 1-2

Description:

Predicted to be involved in adaptive immune response. Predicted to localize to the T cell receptor complex.

Type:

gene

RefSeq Status:

VALIDATED

Also known as:

TCRBJ1S2; TRBJ12

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Annotation category: partial on reference assembly

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	142,787,017 - 142,787,064 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
Build 36	7	142,194,829 - 142,194,876 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	7	137,322,004 - 137,322,051 (+)	NCBI
Cytogenetic Map	7	q34	NCBI
HuRef	7	136,823,358 - 136,823,405 (+)	NCBI		HuRef
CHM1_1	7	142,420,989 - 142,421,036 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation (Toggle Annotation Detail/Summary View)

Gene Ontology Annotations

References - uncurated

Genomics

Position Markers

Expression

Sequence

Nucleotide Sequences

Protein Sequences

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	copy number gain	See cases [RCV000133645]	Chr7:141126407..145652221 [GRCh38] Chr7:140826207..145349314 [GRCh37] Chr7:140472676..144980247 [NCBI36] Chr7:7q34-35	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	copy number gain	See cases [RCV000136592]	Chr7:137751200..154815582 [GRCh38] Chr7:137435946..154607292 [GRCh37] Chr7:137086486..154238225 [NCBI36] Chr7:7q33-36.2	pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	copy number loss	See cases [RCV000137256]	Chr7:141960861..159335866 [GRCh38] Chr7:142528609..159128556 [GRCh37] Chr7:141307130..158821317 [NCBI36] Chr7:7q34-36.3	pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	copy number loss	See cases [RCV000138120]	Chr7:134666829..158591882 [GRCh38] Chr7:134351581..158384574 [GRCh37] Chr7:134002121..158077335 [NCBI36] Chr7:7q33-36.3	pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	copy number gain	See cases [RCV000138847]	Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3	pathogenic
NCBI36/hg18 7q34(chr7:142138310-142238820)x1	copy number loss	See cases [RCV000138823]	Chr7:142138310..142238820 [NCBI36] Chr7:7q34	likely benign
NCBI36/hg18 7q34(chr7:142137645-142238820)x1	copy number loss	See cases [RCV000139072]	Chr7:142137645..142238820 [NCBI36] Chr7:7q34	likely benign
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	copy number loss	See cases [RCV000138903]	Chr7:135017687..148807400 [GRCh38] Chr7:134702438..148504492 [GRCh37] Chr7:134352978..148135425 [NCBI36] Chr7:7q33-36.1	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	copy number gain	See cases [RCV000139654]	Chr7:132444095..159335866 [GRCh38] Chr7:132128854..159128556 [GRCh37] Chr7:131779394..158821317 [NCBI36] Chr7:7q32.3-36.3	pathogenic
NCBI36/hg18 7q34(chr7:142137100-142238820)x1	copy number loss	See cases [RCV000139691]	Chr7:142137100..142238820 [NCBI36] Chr7:7q34	likely benign
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	copy number gain	See cases [RCV000141413]	Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	copy number gain	See cases [RCV000142802]	Chr7:131228764..159335866 [GRCh38] Chr7:130913523..159128556 [GRCh37] Chr7:130564063..158821317 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	copy number gain	See cases [RCV000143754]	Chr7:131171478..159327017 [GRCh38] Chr7:130856237..159119707 [GRCh37] Chr7:130506777..158812468 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	copy number gain	See cases [RCV000143724]	Chr7:140061285..144622893 [GRCh38] Chr7:139761085..144319986 [GRCh37] Chr7:139407554..143950919 [NCBI36] Chr7:7q34-35	uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	copy number gain	See cases [RCV000143707]	Chr7:132438072..159327017 [GRCh38] Chr7:132122831..159119707 [GRCh37] Chr7:131773371..158812468 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	copy number gain	Cleft palate, isolated [RCV000050876]\|See cases [RCV000050876]	Chr7:129310166..159282390 [GRCh38] Chr7:128950007..159075079 [GRCh37] Chr7:128737243..158767840 [NCBI36] Chr7:7q32.1-36.3	pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050639]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050639]\|See cases [RCV000050639]	Chr7:142578948..144254897 [GRCh38] Chr7:142528609..143951990 [GRCh37] Chr7:141967554..143582923 [NCBI36] Chr7:7q34-35	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051101]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051101]\|See cases [RCV000051101]	Chr7:132850196..159325876 [GRCh38] Chr7:132534956..159118566 [GRCh37] Chr7:132185496..158811327 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	Ambiguous genitalia [RCV000052250]\|See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	copy number gain	Global developmental delay [RCV000053576]\|See cases [RCV000053576]	Chr7:136309982..159307523 [GRCh38] Chr7:135994730..159100212 [GRCh37] Chr7:135645270..158792973 [NCBI36] Chr7:7q33-36.3	pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]\|See cases [RCV000053577]	Chr7:142021716..159325876 [GRCh38] Chr7:142528609..159118566 [GRCh37] Chr7:141367985..158811327 [NCBI36] Chr7:7q34-36.3	pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	copy number loss	Obesity [RCV000054173]\|See cases [RCV000054173]	Chr7:135414108..144140219 [GRCh38] Chr7:135098857..143837312 [GRCh37] Chr7:134749397..143468245 [NCBI36] Chr7:7q33-35	pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]\|See cases [RCV000054175]	Chr7:139365967..159282531 [GRCh38] Chr7:139050713..159075220 [GRCh37] Chr7:138701253..158767981 [NCBI36] Chr7:7q34-36.3	pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	copy number loss	Corpus callosum agenesis [RCV000054176]\|See cases [RCV000054176]	Chr7:140754198..159307523 [GRCh38] Chr7:140453998..159100212 [GRCh37] Chr7:140100467..158792973 [NCBI36] Chr7:7q34-36.3	pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054177]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054177]\|See cases [RCV000054177]	Chr7:142358524..159282531 [GRCh38] Chr7:142528609..159075220 [GRCh37] Chr7:141726947..158767981 [NCBI36] Chr7:7q34-36.3	pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]\|See cases [RCV000054172]	Chr7:132023155..149309794 [GRCh38] Chr7:131707914..149006885 [GRCh37] Chr7:131358454..148637818 [NCBI36] Chr7:7q32.3-36.1	pathogenic

Additional Information

External Database Links

More on TRBJ1-2
	Alliance Gene
	NCBI Gene
	Ensembl Gene
	JBrowse: hg38
	HGNC Report
	NCBI Genome Data Viewer

CRRD Object Information
CRRD ID:	1343799
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.

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