LOC126862019 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90429220-90430419) - Rat Genome Database

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Gene: LOC126862019 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90429220-90430419) Homo sapiens
Analyze
Symbol: LOC126862019
Name: CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90429220-90430419
RGD ID: 155227950
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381489,962,876 - 89,964,075 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01484,187,075 - 84,188,274 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126862019
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018319.4(TDP1):c.276T>G (p.Ser92Arg) single nucleotide variant Inborn genetic diseases [RCV003266838] Chr14:89963390 [GRCh38]
Chr14:90429734 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117927]|not provided [RCV000993299] Chr14:89963350 [GRCh38]
Chr14:90429694 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.194T>A (p.Phe65Tyr) single nucleotide variant Inborn genetic diseases [RCV003246024] Chr14:89963308 [GRCh38]
Chr14:90429652 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.330C>G (p.Ile110Met) single nucleotide variant Inborn genetic diseases [RCV003295293] Chr14:89963444 [GRCh38]
Chr14:90429788 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116482]|not provided [RCV000993298] Chr14:89963251 [GRCh38]
Chr14:90429595 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116479] Chr14:89963139 [GRCh38]
Chr14:90429483 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116480] Chr14:89963182 [GRCh38]
Chr14:90429526 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.525_529del (p.Pro176fs) deletion not provided [RCV001090625] Chr14:89963637..89963641 [GRCh38]
Chr14:90429981..90429985 [GRCh37]
Chr14:14q32.11		 likely pathogenic
NM_018319.4(TDP1):c.237C>T (p.Ser79=) single nucleotide variant not provided [RCV000900976] Chr14:89963351 [GRCh38]
Chr14:90429695 [GRCh37]
Chr14:14q32.11		 likely benign
NM_018319.4(TDP1):c.16G>A (p.Asp6Asn) single nucleotide variant not provided [RCV001531820] Chr14:89963130 [GRCh38]
Chr14:90429474 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.353C>T (p.Ala118Val) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117928] Chr14:89963467 [GRCh38]
Chr14:90429811 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.537C>T (p.Asn179=) single nucleotide variant not provided [RCV000889740]|not specified [RCV000517308] Chr14:89963651 [GRCh38]
Chr14:90429995 [GRCh37]
Chr14:14q32.11		 benign
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000270004]|not provided [RCV002472986] Chr14:89963133 [GRCh38]
Chr14:90429477 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.84A>G (p.Pro28=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116481] Chr14:89963198 [GRCh38]
Chr14:90429542 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.365_366delinsTA (p.Gly122Val) indel not provided [RCV001663620] Chr14:89963479..89963480 [GRCh38]
Chr14:90429823..90429824 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.291A>G (p.Gln97=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000322773]|not provided [RCV001618552]|not specified [RCV001699446] Chr14:89963405 [GRCh38]
Chr14:90429749 [GRCh37]
Chr14:14q32.11		 benign
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000756757]|not provided [RCV001618553]|not specified [RCV001288860] Chr14:89963416 [GRCh38]
Chr14:90429760 [GRCh37]
Chr14:14q32.11		 benign|likely benign
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117926]|not provided [RCV000177303] Chr14:89963322 [GRCh38]
Chr14:90429666 [GRCh37]
Chr14:14q32.11		 uncertain significance
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) deletion not provided [RCV000995229] Chr14:89963454..89963455 [GRCh38]
Chr14:90429798..90429799 [GRCh37]
Chr14:14q32.11		 likely pathogenic|conflicting interpretations of pathogenicity
NM_018319.4(TDP1):c.338A>G (p.Glu113Gly) single nucleotide variant Inborn genetic diseases [RCV002729348] Chr14:89963452 [GRCh38]
Chr14:90429796 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV000713819] Chr14:89963116 [GRCh38]
Chr14:90429460 [GRCh37]
Chr14:14q32.11		 likely pathogenic
NM_018319.4(TDP1):c.429C>T (p.Asp143=) single nucleotide variant not provided [RCV000713821] Chr14:89963543 [GRCh38]
Chr14:90429887 [GRCh37]
Chr14:14q32.11		 likely benign
NM_018319.4(TDP1):c.321A>C (p.Lys107Asn) single nucleotide variant not provided [RCV002510149] Chr14:89963435 [GRCh38]
Chr14:90429779 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.15C>T (p.Gly5=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000366546]|not provided [RCV000592284] Chr14:89963129 [GRCh38]
Chr14:90429473 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.285G>T (p.Glu95Asp) single nucleotide variant not provided [RCV000516365]|not specified [RCV001283508] Chr14:89963399 [GRCh38]
Chr14:90429743 [GRCh37]
Chr14:14q32.11		 benign|likely benign
NM_018319.4(TDP1):c.-3A>G single nucleotide variant not provided [RCV000285876] Chr14:89963112 [GRCh38]
Chr14:90429456 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000282718]|not provided [RCV001712022]|not specified [RCV001288863] Chr14:89963514 [GRCh38]
Chr14:90429858 [GRCh37]
Chr14:14q32.11		 benign
NM_018319.4(TDP1):c.135G>A (p.Arg45=) single nucleotide variant not provided [RCV000993297] Chr14:89963249 [GRCh38]
Chr14:90429593 [GRCh37]
Chr14:14q32.11		 likely benign
NM_018319.4(TDP1):c.399C>T (p.Pro133=) single nucleotide variant not provided [RCV000993300] Chr14:89963513 [GRCh38]
Chr14:90429857 [GRCh37]
Chr14:14q32.11		 likely benign
NM_018319.4(TDP1):c.370G>A (p.Ala124Thr) single nucleotide variant Inborn genetic diseases [RCV002537982]|not provided [RCV001288862] Chr14:89963484 [GRCh38]
Chr14:90429828 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.346A>G (p.Ile116Val) single nucleotide variant not provided [RCV001288861] Chr14:89963460 [GRCh38]
Chr14:90429804 [GRCh37]
Chr14:14q32.11		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
NM_018319.4(TDP1):c.148G>A (p.Glu50Lys) single nucleotide variant not provided [RCV000713816] Chr14:89963262 [GRCh38]
Chr14:90429606 [GRCh37]
Chr14:14q32.11		 uncertain 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
NM_018319.4(TDP1):c.389A>G (p.His130Arg) single nucleotide variant Inborn genetic diseases [RCV002803766] Chr14:89963503 [GRCh38]
Chr14:90429847 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.34A>T (p.Ile12Leu) single nucleotide variant not provided [RCV000713820] Chr14:89963148 [GRCh38]
Chr14:90429492 [GRCh37]
Chr14:14q32.11		 uncertain significance
GRCh38/hg38 14q32.11(chr14:89840367-89986509)x1 copy number loss See cases [RCV000139963] Chr14:89840367..89986509 [GRCh38]
Chr14:90306711..90452853 [GRCh37]
Chr14:89376464..89522606 [NCBI36]
Chr14:14q32.11		 likely benign
NM_018319.4(TDP1):c.512T>C (p.Val171Ala) single nucleotide variant Inborn genetic diseases [RCV002835740] Chr14:89963626 [GRCh38]
Chr14:90429970 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.556A>G (p.Lys186Glu) single nucleotide variant not specified [RCV000518193] Chr14:89963670 [GRCh38]
Chr14:90430014 [GRCh37]
Chr14:14q32.11		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
NM_018319.4(TDP1):c.167A>G (p.His56Arg) single nucleotide variant Inborn genetic diseases [RCV002925990] Chr14:89963281 [GRCh38]
Chr14:90429625 [GRCh37]
Chr14:14q32.11		 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
NM_018319.4(TDP1):c.91T>A (p.Ser31Thr) single nucleotide variant Inborn genetic diseases [RCV002941488] Chr14:89963205 [GRCh38]
Chr14:90429549 [GRCh37]
Chr14:14q32.11		 uncertain significance
NM_018319.4(TDP1):c.256G>T (p.Gly86Cys) single nucleotide variant Inborn genetic diseases [RCV003374908] Chr14:89963370 [GRCh38]
Chr14:90429714 [GRCh37]
Chr14:14q32.11		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126862019 COSMIC
GTEx LOC126862019 GTEx
Human Proteome Map LOC126862019 Human Proteome Map
NCBI Gene LOC126862019 ENTREZGENE