Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Colorectal Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21278247 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Colorectal Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21278247 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:12477932 | PMID:14702039 | PMID:16385451 | PMID:20379614 | PMID:20732627 | PMID:21490949 | PMID:21873635 | PMID:22412388 | PMID:22791750 | PMID:22832960 | PMID:26344197 |
TCERG1L (Homo sapiens - human) |
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Tcerg1l (Mus musculus - house mouse) |
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Tcerg1l (Rattus norvegicus - Norway rat) |
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Tcerg1l (Chinchilla lanigera - long-tailed chinchilla) |
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TCERG1L (Pan paniscus - bonobo/pygmy chimpanzee) |
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TCERG1L (Canis lupus familiaris - dog) |
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Tcerg1l (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TCERG1L (Sus scrofa - pig) |
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TCERG1L (Chlorocebus sabaeus - green monkey) |
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Tcerg1l (Heterocephalus glaber - naked mole-rat) |
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Variants in TCERG1L
46 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 | copy number gain | See cases [RCV000051218] | Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 | copy number loss | See cases [RCV000051069] | Chr10:122265252..133620674 [GRCh38] Chr10:124024767..135434178 [GRCh37] Chr10:124014757..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:131063816-131761750)x3 | copy number gain | See cases [RCV000051099] | Chr10:131063816..131761750 [GRCh38] Chr10:132862079..133594086 [GRCh37] Chr10:132752069..133444076 [NCBI36] Chr10:10q26.3 |
uncertain significance |
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 | copy number loss | See cases [RCV000051103] | Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 | copy number loss | See cases [RCV000051150] | Chr10:123307835..133620674 [GRCh38] Chr10:125067351..135434178 [GRCh37] Chr10:125057341..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 | copy number loss | See cases [RCV000052612] | Chr10:126256585..133613938 [GRCh38] Chr10:127945154..135427442 [GRCh37] Chr10:127935144..135277432 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613] | Chr10:127500483..133620674 [GRCh38] Chr10:129298747..135434178 [GRCh37] Chr10:129188737..135284168 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1 | copy number loss | See cases [RCV000052614] | Chr10:129673966..133613938 [GRCh38] Chr10:131472230..135427442 [GRCh37] Chr10:131362220..135277432 [NCBI36] Chr10:10q26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|See cases [RCV000052615] | Chr10:129758596..133620674 [GRCh38] Chr10:131556860..135434178 [GRCh37] Chr10:131446850..135284168 [NCBI36] Chr10:10q26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1 | copy number loss | See cases [RCV000052616] | Chr10:129763050..131379342 [GRCh38] Chr10:131561314..133177605 [GRCh37] Chr10:131451304..133067595 [NCBI36] Chr10:10q26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 | copy number loss | See cases [RCV000052611] | Chr10:123580320..133558988 [GRCh38] Chr10:125339836..135372492 [GRCh37] Chr10:125329826..135222482 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] | Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 | copy number gain | See cases [RCV000053564] | Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 | copy number gain | See cases [RCV000053588] | Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 | copy number gain | See cases [RCV000053589] | Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
NM_174937.3(TCERG1L):c.946-1004C>A | single nucleotide variant | Lung cancer [RCV000108842] | Chr10:131164214 [GRCh38] Chr10:132962477 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.3(TCERG1L):c.856+14020C>T | single nucleotide variant | Lung cancer [RCV000108843] | Chr10:131246239 [GRCh38] Chr10:133044502 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.3(TCERG1L):c.671-2255G>A | single nucleotide variant | Lung cancer [RCV000108844] | Chr10:131262699 [GRCh38] Chr10:133060962 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 | copy number gain | not provided [RCV000847820] | Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 | copy number gain | See cases [RCV000133688] | Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 | copy number loss | See cases [RCV000133741] | Chr10:125657472..133620674 [GRCh38] Chr10:127346041..135434178 [GRCh37] Chr10:127336031..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 | copy number loss | See cases [RCV000134040] | Chr10:126730896..133620609 [GRCh38] Chr10:128419465..135434113 [GRCh37] Chr10:128409455..135284103 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1 | copy number loss | See cases [RCV000135728] | Chr10:127640489..132776585 [GRCh38] Chr10:129438753..134590089 [GRCh37] Chr10:129328743..134440079 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1 | copy number loss | See cases [RCV000135547] | Chr10:129549258..133620674 [GRCh38] Chr10:131347522..135434178 [GRCh37] Chr10:131237512..135284168 [NCBI36] Chr10:10q26.3 |
pathogenic|likely benign |
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 | copy number loss | See cases [RCV000136028] | Chr10:124473108..133620609 [GRCh38] Chr10:126161677..135434113 [GRCh37] Chr10:126151667..135284103 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3 | copy number gain | See cases [RCV000136888] | Chr10:128872419..133564028 [GRCh38] Chr10:130670683..135377532 [GRCh37] Chr10:130560673..135227522 [NCBI36] Chr10:10q26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 | copy number loss | See cases [RCV000137653] | Chr10:124834858..133622588 [GRCh38] Chr10:126523427..135436092 [GRCh37] Chr10:126513417..135286082 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1 | copy number loss | See cases [RCV000138159] | Chr10:128549913..133622588 [GRCh38] Chr10:130348177..135436092 [GRCh37] Chr10:130238167..135286082 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic|uncertain significance |
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1 | copy number loss | See cases [RCV000138160] | Chr10:127849717..133622588 [GRCh38] Chr10:129647981..135436092 [GRCh37] Chr10:129537971..135286082 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic|likely benign |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 | copy number gain | See cases [RCV000137747] | Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1 | copy number loss | See cases [RCV000137959] | Chr10:129427520..133622588 [GRCh38] Chr10:131225784..135436092 [GRCh37] Chr10:131115774..135286082 [NCBI36] Chr10:10q26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 | copy number loss | See cases [RCV000138435] | Chr10:122881207..133620609 [GRCh38] Chr10:124640723..135434113 [GRCh37] Chr10:124630713..135284103 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 | copy number loss | See cases [RCV000139344] | Chr10:120970558..133622588 [GRCh38] Chr10:122730071..135436092 [GRCh37] Chr10:122720061..135286082 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 | copy number loss | See cases [RCV000139588] | Chr10:125021995..133620609 [GRCh38] Chr10:126710564..135434113 [GRCh37] Chr10:126700554..135284103 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 | copy number gain | See cases [RCV000141337] | Chr10:125452905..133785874 [GRCh38] Chr10:127141474..135523199 [GRCh37] Chr10:127131464..135373189 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 | copy number gain | See cases [RCV000140974] | Chr10:127664168..133622588 [GRCh38] Chr10:129462432..135436092 [GRCh37] Chr10:129352422..135286082 [NCBI36] Chr10:10q26.2-26.3 |
likely pathogenic |
GRCh38/hg38 10q26.3(chr10:130619775-131684528)x3 | copy number gain | See cases [RCV000140785] | Chr10:130619775..131684528 [GRCh38] Chr10:132418039..133516864 [GRCh37] Chr10:132308029..133366854 [NCBI36] Chr10:10q26.3 |
uncertain significance |
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 | copy number gain | See cases [RCV000142005] | Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 | copy number loss | See cases [RCV000142441] | Chr10:121588992..133620674 [GRCh38] Chr10:123348506..135434178 [GRCh37] Chr10:123338496..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 | copy number loss | See cases [RCV000142737] | Chr10:121918547..133620674 [GRCh38] Chr10:123678062..135434178 [GRCh37] Chr10:123668052..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 | copy number loss | See cases [RCV000143241] | Chr10:127435985..133622588 [GRCh38] Chr10:129234249..135436092 [GRCh37] Chr10:129124239..135286082 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 | copy number loss | See cases [RCV000143623] | Chr10:123986772..133613639 [GRCh38] Chr10:125746288..135427143 [GRCh37] Chr10:125736278..135277133 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 | copy number loss | See cases [RCV000143544] | Chr10:123576393..133613639 [GRCh38] Chr10:125335909..135427143 [GRCh37] Chr10:125325899..135277133 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1 | copy number loss | See cases [RCV000143554] | Chr10:130625650..133613639 [GRCh38] Chr10:132423914..135427143 [GRCh37] Chr10:132313904..135277133 [NCBI36] Chr10:10q26.3 |
uncertain significance |
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 | copy number loss | See cases [RCV000143615] | Chr10:126794646..133613639 [GRCh38] Chr10:128483215..135427143 [GRCh37] Chr10:128473205..135277133 [NCBI36] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 | copy number loss | See cases [RCV000203440] | Chr10:123731209..135353867 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 10q26.3(chr10:132547998-133057358)x3 | copy number gain | Premature ovarian failure [RCV000225136] | Chr10:132547998..133057358 [GRCh37] Chr10:10q26.3 |
benign |
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 | copy number gain | See cases [RCV000240457] | Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 | copy number gain | See cases [RCV000449169] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 | copy number loss | See cases [RCV000449336] | Chr10:124147428..135370736 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 | copy number gain | See cases [RCV000449386] | Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 | copy number loss | See cases [RCV000446095] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 | copy number gain | See cases [RCV000446733] | Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:132680218-133177546)x3 | copy number gain | See cases [RCV000446538] | Chr10:132680218..133177546 [GRCh37] Chr10:10q26.3 |
likely benign |
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1 | copy number loss | See cases [RCV000447132] | Chr10:128465436..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1 | copy number loss | See cases [RCV000446777] | Chr10:132468363..135367666 [GRCh37] Chr10:10q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3 | copy number gain | See cases [RCV000510589] | Chr10:132354150..135427143 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1 | copy number loss | See cases [RCV000511570] | Chr10:129825453..135427143 [GRCh37] Chr10:10q26.2-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1 | copy number loss | See cases [RCV000511813] | Chr10:127658004..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 | copy number gain | See cases [RCV000510813] | Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:132393752-133524273)x3 | copy number gain | See cases [RCV000511243] | Chr10:132393752..133524273 [GRCh37] Chr10:10q26.3 |
likely benign |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 | copy number gain | See cases [RCV000510972] | Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1 | copy number loss | See cases [RCV000511280] | Chr10:130693843..134772865 [GRCh37] Chr10:10q26.3 |
likely pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3 | copy number gain | See cases [RCV000512398] | Chr10:129007673..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 | copy number loss | not provided [RCV000683287] | Chr10:122509781..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1 | copy number loss | not provided [RCV000683283] | Chr10:127375792..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 | copy number loss | not provided [RCV000683286] | Chr10:123019239..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 | copy number loss | not provided [RCV000683285] | Chr10:125450893..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 | copy number gain | not provided [RCV000683288] | Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 | copy number gain | not provided [RCV000683290] | Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1 | copy number loss | not provided [RCV000683274] | Chr10:131949020..135427143 [GRCh37] Chr10:10q26.3 |
pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 | copy number gain | not provided [RCV000683291] | Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 | copy number loss | not provided [RCV000737305] | Chr10:122443197..135477883 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1 | copy number loss | not provided [RCV000737323] | Chr10:129454892..135447971 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:132645033-133729749)x1 | copy number loss | not provided [RCV000749848] | Chr10:132645033..133729749 [GRCh37] Chr10:10q26.3 |
benign |
GRCh37/hg19 10q26.3(chr10:132908210-132912702)x0 | copy number loss | not provided [RCV000749850] | Chr10:132908210..132912702 [GRCh37] Chr10:10q26.3 |
benign |
GRCh37/hg19 10q26.3(chr10:132909934-132928542)x1 | copy number loss | not provided [RCV000749851] | Chr10:132909934..132928542 [GRCh37] Chr10:10q26.3 |
benign |
GRCh37/hg19 10q26.3(chr10:132985051-132989502)x0 | copy number loss | not provided [RCV000749852] | Chr10:132985051..132989502 [GRCh37] Chr10:10q26.3 |
benign |
GRCh37/hg19 10q26.3(chr10:132988418-132990234)x0 | copy number loss | not provided [RCV000749853] | Chr10:132988418..132990234 [GRCh37] Chr10:10q26.3 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.608C>G (p.Ser203Cys) | single nucleotide variant | not provided [RCV000963273] | Chr10:131308273 [GRCh38] Chr10:133106536 [GRCh37] Chr10:10q26.3 |
likely benign |
NM_174937.4(TCERG1L):c.1305G>A (p.Glu435=) | single nucleotide variant | not provided [RCV000925191] | Chr10:131116889 [GRCh38] Chr10:132915152 [GRCh37] Chr10:10q26.3 |
likely benign |
NM_174937.4(TCERG1L):c.856+9G>A | single nucleotide variant | not provided [RCV000922388] | Chr10:131260250 [GRCh38] Chr10:133058513 [GRCh37] Chr10:10q26.3 |
likely benign |
NM_174937.4(TCERG1L):c.729C>T (p.Ala243=) | single nucleotide variant | not provided [RCV000967184] | Chr10:131260386 [GRCh38] Chr10:133058649 [GRCh37] Chr10:10q26.3 |
benign|likely benign |
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) | copy number gain | not provided [RCV000767665] | Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 | copy number gain | not provided [RCV000848791] | Chr10:124988334..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1 | copy number loss | not provided [RCV001006362] | Chr10:129009772..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.1407T>A (p.Phe469Leu) | single nucleotide variant | Inborn genetic diseases [RCV003288901] | Chr10:131104343 [GRCh38] Chr10:132902606 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.799C>T (p.Arg267Cys) | single nucleotide variant | Inborn genetic diseases [RCV003249472] | Chr10:131260316 [GRCh38] Chr10:133058579 [GRCh37] Chr10:10q26.3 |
likely benign |
NM_174937.4(TCERG1L):c.1721G>A (p.Arg574Gln) | single nucleotide variant | not provided [RCV000951114] | Chr10:131093202 [GRCh38] Chr10:132891465 [GRCh37] Chr10:10q26.3 |
likely benign |
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1 | copy number loss | not provided [RCV001006364] | Chr10:129381095..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:131759691-133023235)x3 | copy number gain | not provided [RCV001006367] | Chr10:131759691..133023235 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 | copy number gain | not provided [RCV001006356] | Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 | copy number gain | not provided [RCV001537903] | Chr10:118247181..135435319 [GRCh37] Chr10:10q25.3-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 | copy number loss | not provided [RCV001259085] | Chr10:129031265..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) | copy number loss | Global developmental delay [RCV001352664] | Chr10:129483682..135434178 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
Single allele | deletion | Distal 10q deletion syndrome [RCV001391670] | Chr10:127548166..135440251 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 | copy number loss | See cases [RCV001526488] | Chr10:122785023..135457222 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1 | copy number loss | See cases [RCV002285041] | Chr10:129605105..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.1357C>T (p.Arg453Cys) | single nucleotide variant | Inborn genetic diseases [RCV003241747] | Chr10:131116837 [GRCh38] Chr10:132915100 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) | copy number gain | not specified [RCV002052894] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) | copy number loss | not specified [RCV002052895] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143) | copy number loss | not specified [RCV002052902] | Chr10:128465436..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143) | copy number loss | not specified [RCV002052908] | Chr10:129914228..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) | copy number gain | not specified [RCV002052891] | Chr10:108455687..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.901A>T (p.Met301Leu) | single nucleotide variant | Inborn genetic diseases [RCV003295723] | Chr10:131166841 [GRCh38] Chr10:132965104 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.448A>G (p.Ile150Val) | single nucleotide variant | Inborn genetic diseases [RCV003295902] | Chr10:131309194 [GRCh38] Chr10:133107457 [GRCh37] Chr10:10q26.3 |
likely benign |
GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1 | copy number loss | See cases [RCV002292397] | Chr10:126914469..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3 | copy number gain | See cases [RCV002292400] | Chr10:127198625..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.1647G>C (p.Gln549His) | single nucleotide variant | Inborn genetic diseases [RCV003264600] | Chr10:131093276 [GRCh38] Chr10:132891539 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.3(chr10:132844200-132899703)x1 | copy number loss | not provided [RCV002472800] | Chr10:132844200..132899703 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1 | copy number loss | not provided [RCV002473957] | Chr10:130043370..135345340 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3 | copy number gain | not provided [RCV002474692] | Chr10:126662496..133985966 [GRCh37] Chr10:10q26.13-26.3 |
uncertain significance |
GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1 | copy number loss | not provided [RCV002475809] | Chr10:132631529..135354972 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1356G>C (p.Glu452Asp) | single nucleotide variant | Inborn genetic diseases [RCV002879834] | Chr10:131116838 [GRCh38] Chr10:132915101 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1655G>A (p.Arg552Gln) | single nucleotide variant | Inborn genetic diseases [RCV002972930] | Chr10:131093268 [GRCh38] Chr10:132891531 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.323T>C (p.Phe108Ser) | single nucleotide variant | Inborn genetic diseases [RCV002993355] | Chr10:131311313 [GRCh38] Chr10:133109576 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.223C>T (p.Pro75Ser) | single nucleotide variant | Inborn genetic diseases [RCV002733707] | Chr10:131311413 [GRCh38] Chr10:133109676 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1322C>T (p.Thr441Met) | single nucleotide variant | Inborn genetic diseases [RCV002687315] | Chr10:131116872 [GRCh38] Chr10:132915135 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1331C>T (p.Pro444Leu) | single nucleotide variant | Inborn genetic diseases [RCV002980881] | Chr10:131116863 [GRCh38] Chr10:132915126 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1139A>G (p.Asn380Ser) | single nucleotide variant | Inborn genetic diseases [RCV002762115] | Chr10:131146556 [GRCh38] Chr10:132944819 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.916A>C (p.Lys306Gln) | single nucleotide variant | Inborn genetic diseases [RCV003001436] | Chr10:131166826 [GRCh38] Chr10:132965089 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.803A>C (p.His268Pro) | single nucleotide variant | Inborn genetic diseases [RCV002854606] | Chr10:131260312 [GRCh38] Chr10:133058575 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.528G>T (p.Trp176Cys) | single nucleotide variant | Inborn genetic diseases [RCV002893647] | Chr10:131308353 [GRCh38] Chr10:133106616 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1640G>A (p.Arg547Gln) | single nucleotide variant | Inborn genetic diseases [RCV002708586] | Chr10:131093283 [GRCh38] Chr10:132891546 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.887G>A (p.Arg296His) | single nucleotide variant | Inborn genetic diseases [RCV002641665] | Chr10:131166855 [GRCh38] Chr10:132965118 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.742A>G (p.Met248Val) | single nucleotide variant | Inborn genetic diseases [RCV002709516] | Chr10:131260373 [GRCh38] Chr10:133058636 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.482A>T (p.Asn161Ile) | single nucleotide variant | Inborn genetic diseases [RCV002713354] | Chr10:131309160 [GRCh38] Chr10:133107423 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.199C>G (p.Pro67Ala) | single nucleotide variant | Inborn genetic diseases [RCV002743704] | Chr10:131311437 [GRCh38] Chr10:133109700 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.509T>C (p.Phe170Ser) | single nucleotide variant | Inborn genetic diseases [RCV002788487] | Chr10:131308372 [GRCh38] Chr10:133106635 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.721G>A (p.Ala241Thr) | single nucleotide variant | Inborn genetic diseases [RCV002964434] | Chr10:131260394 [GRCh38] Chr10:133058657 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.730G>A (p.Ala244Thr) | single nucleotide variant | Inborn genetic diseases [RCV002921467] | Chr10:131260385 [GRCh38] Chr10:133058648 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1525T>C (p.Tyr509His) | single nucleotide variant | Inborn genetic diseases [RCV002897740] | Chr10:131098385 [GRCh38] Chr10:132896648 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.247C>G (p.Pro83Ala) | single nucleotide variant | Inborn genetic diseases [RCV002964911] | Chr10:131311389 [GRCh38] Chr10:133109652 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.37C>A (p.Gln13Lys) | single nucleotide variant | Inborn genetic diseases [RCV003211870] | Chr10:131311599 [GRCh38] Chr10:133109862 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.1421A>G (p.Lys474Arg) | single nucleotide variant | Inborn genetic diseases [RCV003183154] | Chr10:131104329 [GRCh38] Chr10:132902592 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 | copy number loss | not provided [RCV003222684] | Chr10:122610933..135439810 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.766C>T (p.Leu256Phe) | single nucleotide variant | Inborn genetic diseases [RCV003206727] | Chr10:131260349 [GRCh38] Chr10:133058612 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.81G>C (p.Trp27Cys) | single nucleotide variant | Inborn genetic diseases [RCV003183582] | Chr10:131311555 [GRCh38] Chr10:133109818 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.956C>T (p.Pro319Leu) | single nucleotide variant | Inborn genetic diseases [RCV003184924] | Chr10:131163200 [GRCh38] Chr10:132961463 [GRCh37] Chr10:10q26.3 |
uncertain significance |
NM_174937.4(TCERG1L):c.788G>C (p.Ser263Thr) | single nucleotide variant | Inborn genetic diseases [RCV003284962] | Chr10:131260327 [GRCh38] Chr10:133058590 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319590] | Chr10:123477898..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1 | copy number loss | Distal 10q deletion syndrome [RCV003329543] | Chr10:124895517..135440296 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
NM_174937.4(TCERG1L):c.1061G>A (p.Arg354Gln) | single nucleotide variant | Inborn genetic diseases [RCV003363205] | Chr10:131146634 [GRCh38] Chr10:132944897 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 | copy number gain | not provided [RCV003484817] | Chr10:111447991..133435388 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:132852693-134505024)x3 | copy number gain | not provided [RCV003484824] | Chr10:132852693..134505024 [GRCh37] Chr10:10q26.3 |
uncertain significance |
GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1 | copy number loss | not provided [RCV003483108] | Chr10:128925940..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 | copy number gain | Distal trisomy 10q [RCV003458955] | Chr10:111378692..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1 | copy number loss | Distal 10q deletion syndrome [RCV003458182] | Chr10:128289206..135427143 [GRCh37] Chr10:10q26.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1 | copy number loss | Duane syndrome type 1 [RCV003984306] | Chr10:125976998..133427130 [GRCh38] Chr10:10q26.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1 | copy number loss | not specified [RCV003986883] | Chr10:131398569..135427143 [GRCh37] Chr10:10q26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1 | copy number loss | not specified [RCV003986904] | Chr10:125987494..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1 | copy number loss | not specified [RCV003986878] | Chr10:126127397..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 | copy number gain | not specified [RCV003986893] | Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1 | copy number loss | not provided [RCV003885450] | Chr10:131299771..135441274 [GRCh37] Chr10:10q26.3 |
pathogenic |
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. |
RH76735 |
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RH102879 |
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SHGC-81985 |
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SHGC-107424 |
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SHGC-147201 |
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D10S1155 |
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D1S1423 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 536 | 1 | 1 | 1 | 4 | 11 | 270 | 1 | 36 | 565 | |||||||
Low | 19 | 18 | 609 | 19 | 95 | 5 | 961 | 10 | 1949 | 33 | 806 | 220 | 16 | 49 | 509 | 2 | |
Below cutoff | 1607 | 1174 | 286 | 290 | 797 | 170 | 1750 | 993 | 1316 | 181 | 415 | 497 | 124 | 1 | 711 | 1203 |
RefSeq Acc Id: | ENST00000368642 ⟹ ENSP00000357631 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000483040 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_174937 ⟹ NP_777597 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047424966 ⟹ XP_047280922 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047424967 ⟹ XP_047280923 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054365420 ⟹ XP_054221395 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054365421 ⟹ XP_054221396 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_777597 ⟸ NM_174937 |
- UniProtKB: | Q5VWI2 (UniProtKB/Swiss-Prot), Q86XM8 (UniProtKB/Swiss-Prot), Q5VWI1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000357631 ⟸ ENST00000368642 |
RefSeq Acc Id: | XP_047280922 ⟸ XM_047424966 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047280923 ⟸ XM_047424967 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054221395 ⟸ XM_054365420 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054221396 ⟸ XM_054365421 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5VWI1-F1-model_v2 | AlphaFold | Q5VWI1 | 1-586 | view protein structure |
RGD ID: | 7219011 | ||||||||
Promoter ID: | EPDNEW_H15251 | ||||||||
Type: | initiation region | ||||||||
Name: | TCERG1L_1 | ||||||||
Description: | transcription elongation regulator 1 like | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6787624 | ||||||||
Promoter ID: | HG_KWN:11679 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | ENST00000368643 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:23533 | AgrOrtholog |
COSMIC | TCERG1L | COSMIC |
Ensembl Genes | ENSG00000176769 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000368642 | ENTREZGENE |
ENST00000368642.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.10.440 | UniProtKB/Swiss-Prot |
2.20.70.10 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000176769 | GTEx |
HGNC ID | HGNC:23533 | ENTREZGENE |
Human Proteome Map | TCERG1L | Human Proteome Map |
InterPro | FF_domain | UniProtKB/Swiss-Prot |
FF_domain_sf | UniProtKB/Swiss-Prot | |
TCRG1-like | UniProtKB/Swiss-Prot | |
WW_dom | UniProtKB/Swiss-Prot | |
WW_dom_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:256536 | UniProtKB/Swiss-Prot |
NCBI Gene | 256536 | ENTREZGENE |
OMIM | 620498 | OMIM |
PANTHER | PTHR15377 | UniProtKB/Swiss-Prot |
TRANSCRIPTION ELONGATION REGULATOR 1-LIKE PROTEIN | UniProtKB/Swiss-Prot | |
Pfam | PF01846 | UniProtKB/Swiss-Prot |
PharmGKB | PA134864258 | PharmGKB |
PROSITE | PS51676 | UniProtKB/Swiss-Prot |
WW_DOMAIN_1 | UniProtKB/Swiss-Prot | |
WW_DOMAIN_2 | UniProtKB/Swiss-Prot | |
SMART | SM00441 | UniProtKB/Swiss-Prot |
SM00456 | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF51045 | UniProtKB/Swiss-Prot |
SSF81698 | UniProtKB/Swiss-Prot | |
UniProt | Q5VWI1 | ENTREZGENE |
Q5VWI2 | ENTREZGENE | |
Q86XM8 | ENTREZGENE | |
TCRGL_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q5VWI2 | UniProtKB/Swiss-Prot |
Q86XM8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-08 | TCERG1L | transcription elongation regulator 1 like | transcription elongation regulator 1-like | Symbol and/or name change | 5135510 | APPROVED |