LOC126861231 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:63398741-63399940) - Rat Genome Database

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Gene: LOC126861231 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:63398741-63399940) Homo sapiens
Analyze
Symbol: LOC126861231
Name: CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:63398741-63399940
RGD ID: 155227939
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
GRCh381163,631,269 - 63,632,468 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01163,620,606 - 63,621,805 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126861231
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015459.5(ATL3):c.1295A>G (p.Asn432Ser) single nucleotide variant not provided [RCV003314851] Chr11:63631284 [GRCh38]
Chr11:63398756 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1108-207T>C single nucleotide variant not provided [RCV001536292] Chr11:63631678 [GRCh38]
Chr11:63399150 [GRCh37]
Chr11:11q13.1		 benign
NM_015459.5(ATL3):c.1163G>A (p.Cys388Tyr) single nucleotide variant Inborn genetic diseases [RCV002323039]|Neuropathy, hereditary sensory, type 1F [RCV003094505] Chr11:63631416 [GRCh38]
Chr11:63398888 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1114G>T (p.Gly372Trp) single nucleotide variant Inborn genetic diseases [RCV002441364] Chr11:63631465 [GRCh38]
Chr11:63398937 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1114G>A (p.Gly372Arg) single nucleotide variant Inborn genetic diseases [RCV002441324] Chr11:63631465 [GRCh38]
Chr11:63398937 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1165G>A (p.Glu389Lys) single nucleotide variant Inborn genetic diseases [RCV002327273]|Neuropathy, hereditary sensory, type 1F [RCV001040275] Chr11:63631414 [GRCh38]
Chr11:63398886 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_015459.5(ATL3):c.1138C>T (p.Pro380Ser) single nucleotide variant Inborn genetic diseases [RCV002324305]|Neuropathy, hereditary sensory, type 1F [RCV001908976]|not provided [RCV003395272] Chr11:63631441 [GRCh38]
Chr11:63398913 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_015459.5(ATL3):c.1108G>T (p.Val370Phe) single nucleotide variant Inborn genetic diseases [RCV002458986]|Neuropathy, hereditary sensory, type 1F [RCV002017782] Chr11:63631471 [GRCh38]
Chr11:63398943 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_015459.5(ATL3):c.1200G>T (p.Lys400Asn) single nucleotide variant Malignant tumor of prostate [RCV000205995] Chr11:63631379 [GRCh38]
Chr11:63398851 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1234C>T (p.Arg412Cys) single nucleotide variant Inborn genetic diseases [RCV002368120]|Neuropathy, hereditary sensory, type 1F [RCV001339489] Chr11:63631345 [GRCh38]
Chr11:63398817 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1138C>A (p.Pro380Thr) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001224380] Chr11:63631441 [GRCh38]
Chr11:63398913 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1108-232G>A single nucleotide variant not provided [RCV001717409] Chr11:63631703 [GRCh38]
Chr11:63399175 [GRCh37]
Chr11:11q13.1		 benign
NM_015459.5(ATL3):c.1152G>A (p.Glu384=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV000934060] Chr11:63631427 [GRCh38]
Chr11:63398899 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1183C>A (p.Leu395Met) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001234313] Chr11:63631396 [GRCh38]
Chr11:63398868 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1184T>C (p.Leu395Pro) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001890923] Chr11:63631395 [GRCh38]
Chr11:63398867 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1124A>C (p.Lys375Thr) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV000651993] Chr11:63631455 [GRCh38]
Chr11:63398927 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1242G>T (p.Gln414His) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001297612] Chr11:63631337 [GRCh38]
Chr11:63398809 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1286G>A (p.Cys429Tyr) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV002611730] Chr11:63631293 [GRCh38]
Chr11:63398765 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1196AGA[1] (p.Lys400del) microsatellite Neuropathy, hereditary sensory, type 1F [RCV002816015] Chr11:63631378..63631380 [GRCh38]
Chr11:63398850..63398852 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1190A>G (p.His397Arg) single nucleotide variant Inborn genetic diseases [RCV002804355] Chr11:63631389 [GRCh38]
Chr11:63398861 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1233T>G (p.Phe411Leu) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001233851]|not provided [RCV003481007] Chr11:63631346 [GRCh38]
Chr11:63398818 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1221G>A (p.Lys407=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV002618249] Chr11:63631358 [GRCh38]
Chr11:63398830 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1127C>G (p.Pro376Arg) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV002041242] Chr11:63631452 [GRCh38]
Chr11:63398924 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1144A>C (p.Ile382Leu) single nucleotide variant Inborn genetic diseases [RCV002645012] Chr11:63631435 [GRCh38]
Chr11:63398907 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1161C>G (p.His387Gln) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001064387] Chr11:63631418 [GRCh38]
Chr11:63398890 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1308C>T (p.Asn436=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV002643932] Chr11:63631271 [GRCh38]
Chr11:63398743 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1200G>A (p.Lys400=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV002179841] Chr11:63631379 [GRCh38]
Chr11:63398851 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1191T>C (p.His397=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV002200942] Chr11:63631388 [GRCh38]
Chr11:63398860 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1153G>A (p.Glu385Lys) single nucleotide variant Inborn genetic diseases [RCV003382952]|Neuropathy, hereditary sensory, type 1F [RCV002851549] Chr11:63631426 [GRCh38]
Chr11:63398898 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1222G>A (p.Asp408Asn) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001326949] Chr11:63631357 [GRCh38]
Chr11:63398829 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1197del (p.Lys400fs) deletion Neuropathy, hereditary sensory, type 1F [RCV001373502] Chr11:63631382 [GRCh38]
Chr11:63398854 [GRCh37]
Chr11:11q13.1		 uncertain significance
GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1 copy number loss See cases [RCV000140879] Chr11:62893226..64335043 [GRCh38]
Chr11:62660698..64102515 [GRCh37]
Chr11:62417274..63859091 [NCBI36]
Chr11:11q12.3-13.1		 likely pathogenic
NM_015459.5(ATL3):c.1251G>A (p.Leu417=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001449335] Chr11:63631328 [GRCh38]
Chr11:63398800 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1131T>C (p.Tyr377=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001467698] Chr11:63631448 [GRCh38]
Chr11:63398920 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1235G>A (p.Arg412His) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003825764] Chr11:63631344 [GRCh38]
Chr11:63398816 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1108-15C>A single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003743183] Chr11:63631486 [GRCh38]
Chr11:63398958 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1180G>A (p.Ala394Thr) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003745669] Chr11:63631399 [GRCh38]
Chr11:63398871 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1139_1140del (p.Pro380fs) deletion Neuropathy, hereditary sensory, type 1F [RCV003743431] Chr11:63631439..63631440 [GRCh38]
Chr11:63398911..63398912 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1118dup (p.Glu374fs) duplication Neuropathy, hereditary sensory, type 1F [RCV003744255] Chr11:63631460..63631461 [GRCh38]
Chr11:63398932..63398933 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1305G>T (p.Lys435Asn) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003834427] Chr11:63631274 [GRCh38]
Chr11:63398746 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1115G>A (p.Gly372Glu) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003744436] Chr11:63631464 [GRCh38]
Chr11:63398936 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1170C>A (p.Phe390Leu) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003583553] Chr11:63631409 [GRCh38]
Chr11:63398881 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_015459.5(ATL3):c.1108-8C>G single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003743478] Chr11:63631479 [GRCh38]
Chr11:63398951 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1108-15C>T single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003743268] Chr11:63631486 [GRCh38]
Chr11:63398958 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1140A>G (p.Pro380=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003583504] Chr11:63631439 [GRCh38]
Chr11:63398911 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1257G>A (p.Glu419=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV003871689] Chr11:63631322 [GRCh38]
Chr11:63398794 [GRCh37]
Chr11:11q13.1		 likely benign
NM_015459.5(ATL3):c.1179T>C (p.Leu393=) single nucleotide variant Neuropathy, hereditary sensory, type 1F [RCV001476705] Chr11:63631400 [GRCh38]
Chr11:63398872 [GRCh37]
Chr11:11q13.1		 likely benign

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126861231 COSMIC
GTEx LOC126861231 GTEx
Human Proteome Map LOC126861231 Human Proteome Map
NCBI Gene LOC126861231 ENTREZGENE