LOC126863137 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201) - Rat Genome Database

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Gene: LOC126863137 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201) Homo sapiens
Analyze
Symbol: LOC126863137
Name: CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201
RGD ID: 155227161
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
GRCh382236,299,956 - 36,301,155 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.02236,760,105 - 36,761,304 (+)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 LOC126863137
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002473.6(MYH9):c.2807C>T (p.Ala936Val) single nucleotide variant not provided [RCV002288147] Chr22:36300882 [GRCh38]
Chr22:36696928 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2655G>A (p.Leu885=) single nucleotide variant not provided [RCV002293066] Chr22:36301034 [GRCh38]
Chr22:36697080 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) single nucleotide variant Kidney disorder [RCV002294133]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503938]|not provided [RCV002518620]|not specified [RCV000251687] Chr22:36300881 [GRCh38]
Chr22:36696927 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000393134]|MYH9-related disorder [RCV000348023]|not provided [RCV000969749]|not specified [RCV000151337] Chr22:36300968 [GRCh38]
Chr22:36697014 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000306348]|MYH9-related condition [RCV003927456]|MYH9-related disorder [RCV000344830]|not provided [RCV001850063]|not specified [RCV000151342] Chr22:36301054 [GRCh38]
Chr22:36697100 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_002473.6(MYH9):c.2766C>G (p.Ala922=) single nucleotide variant not specified [RCV000151339] Chr22:36300923 [GRCh38]
Chr22:36696969 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000765635]|not provided [RCV002516039]|not specified [RCV000151340] Chr22:36300975 [GRCh38]
Chr22:36697021 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_002473.6(MYH9):c.2820G>A (p.Lys940=) single nucleotide variant not provided [RCV000891792] Chr22:36300869 [GRCh38]
Chr22:36696915 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2838+250G>A single nucleotide variant not provided [RCV001539735] Chr22:36300601 [GRCh38]
Chr22:36696647 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000387348]|MYH9-related condition [RCV003975178]|MYH9-related disorder [RCV000293055]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002243824]|not provided [RCV000726812]|not specified [RCV000151338] Chr22:36300231 [GRCh38]
Chr22:36696277 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2789G>A (p.Arg930His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001281687]|not specified [RCV000156038] Chr22:36300900 [GRCh38]
Chr22:36696946 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2976+10G>T single nucleotide variant MYH9-related condition [RCV003948586]|not provided [RCV001551432] Chr22:36300117 [GRCh38]
Chr22:36696163 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2838+19C>T single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506677]|not provided [RCV001570604] Chr22:36300832 [GRCh38]
Chr22:36696878 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_002473.6(MYH9):c.2653C>T (p.Leu885=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV001144931]|MYH9-related disorder [RCV001144932] Chr22:36301036 [GRCh38]
Chr22:36697082 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV001151033]|MYH9-related disorder [RCV001151034]|not provided [RCV002531127]|not specified [RCV000614144] Chr22:36300998 [GRCh38]
Chr22:36697044 [GRCh37]
Chr22:22q12.3		 benign|likely benign|uncertain significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494234]|not provided [RCV002112973] Chr22:36300259 [GRCh38]
Chr22:36696305 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2646A>G (p.Lys882=) single nucleotide variant not provided [RCV000916261] Chr22:36301043 [GRCh38]
Chr22:36697089 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2838+182C>T single nucleotide variant not provided [RCV001690781] Chr22:36300669 [GRCh38]
Chr22:36696715 [GRCh37]
Chr22:22q12.3		 benign
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del) microsatellite Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002265869]|not provided [RCV000722320] Chr22:36300868..36300870 [GRCh38]
Chr22:36696914..36696916 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) single nucleotide variant not provided [RCV001824345]|not specified [RCV000600513] Chr22:36300970 [GRCh38]
Chr22:36697016 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2838+16A>G single nucleotide variant not provided [RCV002630916] Chr22:36300835 [GRCh38]
Chr22:36696881 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2679C>A (p.Thr893=) single nucleotide variant not provided [RCV000593507]|not specified [RCV001821722] Chr22:36301010 [GRCh38]
Chr22:36697056 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471315]|not provided [RCV002571449] Chr22:36300183 [GRCh38]
Chr22:36696229 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_002473.6(MYH9):c.2838+120A>G single nucleotide variant not provided [RCV001576278] Chr22:36300731 [GRCh38]
Chr22:36696777 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2976+86G>A single nucleotide variant not provided [RCV001670848] Chr22:36300041 [GRCh38]
Chr22:36696087 [GRCh37]
Chr22:22q12.3		 benign
NM_002473.6(MYH9):c.2976+17T>A single nucleotide variant not provided [RCV002600404] Chr22:36300110 [GRCh38]
Chr22:36696156 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3 copy number gain See cases [RCV000052854] Chr22:35753347..36593973 [GRCh38]
Chr22:36149394..36990020 [GRCh37]
Chr22:34479340..35319966 [NCBI36]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2958G>C (p.Gln986His) single nucleotide variant not provided [RCV001869263]|not specified [RCV000825383] Chr22:36300145 [GRCh38]
Chr22:36696191 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys) single nucleotide variant MYH9-related disorder [RCV000790341]|Thrombocytopenia [RCV000851756] Chr22:36300928 [GRCh38]
Chr22:36696974 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2871C>T (p.Ser957=) single nucleotide variant not provided [RCV000725873]|not specified [RCV000243282] Chr22:36300232 [GRCh38]
Chr22:36696278 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2725_2726del (p.Lys909fs) deletion not specified [RCV002248026] Chr22:36300963..36300964 [GRCh38]
Chr22:36697009..36697010 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2707C>T (p.Arg903Trp) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254229] Chr22:36300982 [GRCh38]
Chr22:36697028 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496207]|not provided [RCV002267282] Chr22:36300976 [GRCh38]
Chr22:36697022 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2838+10C>T single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498178]|not provided [RCV002187644] Chr22:36300841 [GRCh38]
Chr22:36696887 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2839-6C>T single nucleotide variant not provided [RCV002531154]|not specified [RCV000603373] Chr22:36300270 [GRCh38]
Chr22:36696316 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471385]|not provided [RCV002571453] Chr22:36300138 [GRCh38]
Chr22:36696184 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506702]|not provided [RCV001596242] Chr22:36300190 [GRCh38]
Chr22:36696236 [GRCh37]
Chr22:22q12.3		 benign|likely benign
GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3 copy number gain See cases [RCV000052855] Chr22:36246060..36313181 [GRCh38]
Chr22:36642106..36709226 [GRCh37]
Chr22:34972052..35039172 [NCBI36]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2632-8_2632-6del microsatellite MYH9-related condition [RCV003957762]|MYH9-related disorder [RCV000404142]|Nonsyndromic Hearing Loss, Dominant [RCV000305104]|not provided [RCV002057801] Chr22:36301063..36301065 [GRCh38]
Chr22:36697109..36697111 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_002473.6(MYH9):c.2763G>A (p.Glu921=) single nucleotide variant not provided [RCV002192336] Chr22:36300926 [GRCh38]
Chr22:36696972 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2668del (p.Gln890fs) deletion MYH9-related disorder [RCV000790340] Chr22:36301021 [GRCh38]
Chr22:36697067 [GRCh37]
Chr22:22q12.3		 pathogenic|likely pathogenic
NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280935] Chr22:36300982 [GRCh38]
Chr22:36697028 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_002473.6(MYH9):c.2632-19T>C single nucleotide variant not provided [RCV002806776] Chr22:36301076 [GRCh38]
Chr22:36697122 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2976+9C>T single nucleotide variant MYH9-related condition [RCV003943345]|not provided [RCV003096364]|not specified [RCV002283429] Chr22:36300118 [GRCh38]
Chr22:36696164 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_002473.6(MYH9):c.2976+18C>T single nucleotide variant not provided [RCV002570862] Chr22:36300109 [GRCh38]
Chr22:36696155 [GRCh37]
Chr22:22q12.3		 benign
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_002473.6(MYH9):c.2788C>G (p.Arg930Gly) single nucleotide variant Macrothrombocytopenia [RCV002254230] Chr22:36300901 [GRCh38]
Chr22:36696947 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_002473.6(MYH9):c.2911G>A (p.Ala971Thr) single nucleotide variant not provided [RCV000842303] Chr22:36300192 [GRCh38]
Chr22:36696238 [GRCh37]
Chr22:22q12.3		 benign|likely benign
GRCh38/hg38 22q12.3(chr22:36218250-36311777)x3 copy number gain See cases [RCV000141655] Chr22:36218250..36311777 [GRCh38]
Chr22:36614296..36707822 [GRCh37]
Chr22:34944242..35037768 [NCBI36]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
NM_002473.6(MYH9):c.2907C>T (p.Thr969=) single nucleotide variant MYH9-related condition [RCV003900345]|not provided [RCV000593235] Chr22:36300196 [GRCh38]
Chr22:36696242 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003225632] Chr22:36301009 [GRCh38]
Chr22:36697055 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_002473.6(MYH9):c.2803C>G (p.Gln935Glu) single nucleotide variant not provided [RCV003131650] Chr22:36300886 [GRCh38]
Chr22:36696932 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2856G>A (p.Leu952=) single nucleotide variant not provided [RCV002922359] Chr22:36300247 [GRCh38]
Chr22:36696293 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2838+12C>A single nucleotide variant not provided [RCV003831083] Chr22:36300839 [GRCh38]
Chr22:36696885 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2868G>A (p.Glu956=) single nucleotide variant not provided [RCV003663166] Chr22:36300235 [GRCh38]
Chr22:36696281 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2838+11G>A single nucleotide variant not provided [RCV003836517] Chr22:36300840 [GRCh38]
Chr22:36696886 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2976+19G>A single nucleotide variant not provided [RCV003833568] Chr22:36300108 [GRCh38]
Chr22:36696154 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2819A>T (p.Lys940Met) single nucleotide variant not provided [RCV003672246] Chr22:36300870 [GRCh38]
Chr22:36696916 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2814G>C (p.Lys938Asn) single nucleotide variant not provided [RCV003672139] Chr22:36300875 [GRCh38]
Chr22:36696921 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2972C>G (p.Ala991Gly) single nucleotide variant not provided [RCV003668817] Chr22:36300131 [GRCh38]
Chr22:36696177 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2679C>T (p.Thr893=) single nucleotide variant not provided [RCV003824298] Chr22:36301010 [GRCh38]
Chr22:36697056 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2658G>A (p.Gln886=) single nucleotide variant not provided [RCV003552797] Chr22:36301031 [GRCh38]
Chr22:36697077 [GRCh37]
Chr22:22q12.3		 likely benign
NM_002473.6(MYH9):c.2898G>T (p.Lys966Asn) single nucleotide variant not provided [RCV003867099] Chr22:36300205 [GRCh38]
Chr22:36696251 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln) single nucleotide variant not provided [RCV003064653] Chr22:36300961 [GRCh38]
Chr22:36697007 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126863137 COSMIC
GTEx LOC126863137 GTEx
Human Proteome Map LOC126863137 Human Proteome Map
NCBI Gene LOC126863137 ENTREZGENE