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Analyze GeneStrainQTL List |
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adaptive immune response | | IEA | UniProtKB-KW:KW-1064 | 2290271 | | UniProtKB | GO_REF:0000037 | cell surface receptor signaling pathway | | IBA | MGI:MGI:98608, PANTHER:PTN000588091 | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | |
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TRBV28 (Homo sapiens - human) |
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Trbv29 (Mus musculus - house mouse) |
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RH69087 |
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STS-K02545 |
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SHGC-58840 |
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D7S2277 |
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GDB:374188 |
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G65748 |
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GDB:1318702 |
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RH69072 |
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RH46953 |
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STS-M14158 |
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PRSS1 |
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D7S2928 |
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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. |
RefSeq Transcripts | NG_001333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC231380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC239612 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC244472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L36092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U08314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Protein | A0A5B6 | (Get FASTA) | NCBI Sequence Viewer |
AAB60326 | (Get FASTA) | NCBI Sequence Viewer |
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 7q34(chr7:142620494-142732123)x1 | copy number loss | See cases [RCV000135131] | Chr7:142620494..142732123 [GRCh38] Chr7:142328008..142455543 [GRCh37] Chr7:142009000..142135117 [NCBI36] Chr7:7q34 |
benign |
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 7q34(chr7:142699919-142764809)x1 | copy number loss | See cases [RCV000136164] | Chr7:142699919..142764809 [GRCh38] Chr7:142087312..142152233 [NCBI36] Chr7:7q34 |
benign |
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(chr7:142237788-142779344)x3 | copy number gain | See cases [RCV000137716] | Chr7:142237788..142779344 [GRCh38] Chr7:141584064..142187156 [NCBI36] Chr7:7q34 |
likely benign |
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 7q34(chr7:142620632-142753000)x1 | copy number loss | See cases [RCV000138687] | Chr7:142620632..142753000 [GRCh38] Chr7:142009138..142140425 [NCBI36] Chr7:7q34 |
likely benign |
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 |
GRCh38/hg38 7q34(chr7:142578930-142753745)x1 | copy number loss | See cases [RCV000138582] | Chr7:142578930..142753745 [GRCh38] Chr7:141967536..142141170 [NCBI36] Chr7:7q34 |
likely benign |
GRCh38/hg38 7q34(chr7:142503036-142753076)x1 | copy number loss | See cases [RCV000139181] | Chr7:142503036..142753076 [GRCh38] Chr7:141871507..142140501 [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 |
GRCh38/hg38 7q34(chr7:142620632-142753076)x1 | copy number loss | See cases [RCV000139708] | Chr7:142620632..142753076 [GRCh38] Chr7:142009138..142140501 [NCBI36] Chr7:7q34 |
likely benign |
GRCh38/hg38 7q34(chr7:142578930-142752607)x3 | copy number gain | See cases [RCV000139475] | Chr7:142578930..142752607 [GRCh38] Chr7:141967536..142140032 [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 7q34(chr7:142503036-142753745)x1 | copy number loss | See cases [RCV000142812] | Chr7:142503036..142753745 [GRCh38] Chr7:141871507..142141170 [NCBI36] Chr7:7q34 |
likely benign |
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 |
GRCh37/hg19 7q34(chr7:141937588-142486548)x3 | copy number gain | See cases [RCV000143759] | Chr7:141937588..142486548 [GRCh37] Chr7:141584062..142186550 [NCBI36] Chr7:7q34 |
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 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 |
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 |
Database | Acc Id | Source(s) |
COSMIC | TRBV28 | COSMIC |
Ensembl Genes | ENSG00000211753 | UniProtKB/Swiss-Prot |
ENSG00000282812 | UniProtKB/Swiss-Prot | |
Ensembl Protein | ENSP00000374923 | UniProtKB/Swiss-Prot |
ENSP00000480928 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000390400 | UniProtKB/Swiss-Prot |
ENST00000619125 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000211753 | GTEx |
ENSG00000282812 | GTEx | |
HGNC ID | HGNC:12209 | ENTREZGENE |
Human Proteome Map | TRBV28 | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot |
Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
Ig-like_fold | UniProtKB/Swiss-Prot | |
Ig_V-set | UniProtKB/Swiss-Prot | |
NCBI Gene | TRBV28 | ENTREZGENE |
Pfam | V-set | UniProtKB/Swiss-Prot |
PharmGKB | PA36889 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
UniProt | A0A5B6 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | A0A0G2JN94 | UniProtKB/Swiss-Prot |
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More on TRBV28 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1352321 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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