BAHD1 (bromo adjacent homology domain containing 1) - Rat Genome Database

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Gene: BAHD1 (bromo adjacent homology domain containing 1) Homo sapiens
Analyze
Symbol: BAHD1
Name: bromo adjacent homology domain containing 1
RGD ID: 1345980
HGNC Page HGNC:29153
Description: Enables chromatin binding activity. Involved in heterochromatin formation and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of chromatin silencing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BAH domain-containing protein 1; bromo adjacent homology domain-containing 1 protein; KIAA0945
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381540,437,452 - 40,468,236 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,439,721 - 40,468,236 (+)EnsemblGRCh38hg38GRCh38
GRCh371540,731,956 - 40,760,435 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,520,703 - 38,547,733 (+)NCBINCBI36Build 36hg18NCBI36
Build 341538,520,702 - 38,547,720NCBI
Celera1517,499,558 - 17,526,585 (+)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1517,594,508 - 17,604,299 (+)NCBIHuRef
CHM1_11540,853,604 - 40,880,604 (+)NCBICHM1_1
T2T-CHM13v2.01538,247,131 - 38,275,586 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:10231032   PMID:12421765   PMID:16189514   PMID:18187620   PMID:19666599   PMID:19913121   PMID:20628086   PMID:21252314   PMID:21516116   PMID:21873635   PMID:21900206  
PMID:23455924   PMID:24449750   PMID:25416956   PMID:26183847   PMID:26186194   PMID:26760575   PMID:26850261   PMID:26938916   PMID:28514442   PMID:29507755   PMID:30352868   PMID:32296183  
PMID:32407325   PMID:32694731   PMID:32814053   PMID:33156908   PMID:33823544   PMID:33961781   PMID:35048286   PMID:35271311   PMID:35748872  


Genomics

Comparative Map Data
BAHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381540,437,452 - 40,468,236 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,439,721 - 40,468,236 (+)EnsemblGRCh38hg38GRCh38
GRCh371540,731,956 - 40,760,435 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,520,703 - 38,547,733 (+)NCBINCBI36Build 36hg18NCBI36
Build 341538,520,702 - 38,547,720NCBI
Celera1517,499,558 - 17,526,585 (+)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1517,594,508 - 17,604,299 (+)NCBIHuRef
CHM1_11540,853,604 - 40,880,604 (+)NCBICHM1_1
T2T-CHM13v2.01538,247,131 - 38,275,586 (+)NCBIT2T-CHM13v2.0
Bahd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392118,730,817 - 118,755,009 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2118,730,858 - 118,755,009 (+)EnsemblGRCm39 Ensembl
GRCm382118,900,336 - 118,924,528 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2118,900,377 - 118,924,528 (+)EnsemblGRCm38mm10GRCm38
MGSCv372118,727,351 - 118,750,260 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362118,591,818 - 118,615,971 (+)NCBIMGSCv36mm8
Celera2120,067,400 - 120,076,094 (+)NCBICelera
Cytogenetic Map2E5NCBI
cM Map259.72NCBI
Bahd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83126,341,853 - 126,368,281 (+)NCBIGRCr8
mRatBN7.23105,891,207 - 105,914,414 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3105,892,478 - 105,914,410 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.03110,708,790 - 110,732,038 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3110,723,481 - 110,732,060 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03117,246,896 - 117,269,975 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43105,429,028 - 105,437,536 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3104,804,898 - 104,827,604 (+)NCBICelera
Cytogenetic Map3q35NCBI
Bahd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554167,361,847 - 7,388,647 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554167,376,794 - 7,388,577 (+)NCBIChiLan1.0ChiLan1.0
BAHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21629,676,241 - 29,704,659 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11533,827,610 - 33,856,003 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01519,376,233 - 19,404,699 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11537,630,476 - 37,657,918 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1537,630,476 - 37,657,918 (+)Ensemblpanpan1.1panPan2
BAHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1307,609,087 - 7,638,880 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl307,613,345 - 7,638,880 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha307,666,894 - 7,692,594 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0307,738,977 - 7,764,672 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl307,739,249 - 7,764,664 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1307,663,249 - 7,688,948 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0307,769,314 - 7,794,987 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0307,898,180 - 7,923,883 (+)NCBIUU_Cfam_GSD_1.0
Bahd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864086,053,454 - 86,079,681 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364713,902,625 - 3,927,829 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364713,902,558 - 3,927,746 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BAHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1130,849,842 - 130,875,974 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11130,849,835 - 130,874,735 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21145,935,049 - 145,954,376 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BAHD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12642,543,308 - 42,572,880 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2642,543,107 - 42,570,430 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604898,396,348 - 98,427,047 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bahd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248047,742,217 - 7,769,108 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248047,741,141 - 7,767,049 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BAHD1
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 copy number gain See cases [RCV000052341] Chr15:36531993..40787538 [GRCh38]
Chr15:36824194..41079736 [GRCh37]
Chr15:34611486..38867028 [NCBI36]
Chr15:15q14-15.1		 pathogenic
NM_014952.4(BAHD1):c.387C>T (p.Asn129=) single nucleotide variant Malignant melanoma [RCV000070746] Chr15:40458851 [GRCh38]
Chr15:40751050 [GRCh37]
Chr15:38538342 [NCBI36]
Chr15:15q15.1		 not provided
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_014952.5(BAHD1):c.1508T>A (p.Leu503His) single nucleotide variant not specified [RCV004332869] Chr15:40461987 [GRCh38]
Chr15:40754186 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.2118G>T (p.Glu706Asp) single nucleotide variant not specified [RCV004305483] Chr15:40465400 [GRCh38]
Chr15:40757599 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1511T>A (p.Leu504Gln) single nucleotide variant not specified [RCV004332870] Chr15:40461990 [GRCh38]
Chr15:40754189 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.982C>T (p.Pro328Ser) single nucleotide variant not specified [RCV004285929] Chr15:40459446 [GRCh38]
Chr15:40751645 [GRCh37]
Chr15:15q15.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant complex Spindle cell sarcoma [RCV000714282] Chr15:34640169..42054561 [GRCh37]
Chr15:15q14-15.1		 pathogenic
GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1 copy number loss not provided [RCV000683683] Chr15:38170429..40775075 [GRCh37]
Chr15:15q14-15.1		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_014952.5(BAHD1):c.892C>A (p.Gln298Lys) single nucleotide variant not provided [RCV001610044] Chr15:40459356 [GRCh38]
Chr15:40459356..40459357 [GRCh38]
Chr15:40751555 [GRCh37]
Chr15:40751555..40751556 [GRCh37]
Chr15:15q15.1		 benign
NM_014952.5(BAHD1):c.1498G>C (p.Ala500Pro) single nucleotide variant not specified [RCV004331872] Chr15:40461977 [GRCh38]
Chr15:40754176 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4 copy number gain not provided [RCV001259208] Chr15:40464942..41196807 [GRCh37]
Chr15:15q15.1		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_014952.5(BAHD1):c.1598G>A (p.Arg533His) single nucleotide variant not specified [RCV004322965] Chr15:40462077 [GRCh38]
Chr15:40754276 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1324G>A (p.Glu442Lys) single nucleotide variant not specified [RCV004295416] Chr15:40459788 [GRCh38]
Chr15:40751987 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.515G>A (p.Arg172Gln) single nucleotide variant not specified [RCV004215039] Chr15:40458979 [GRCh38]
Chr15:40751178 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.461G>A (p.Ser154Asn) single nucleotide variant not specified [RCV004128562] Chr15:40458925 [GRCh38]
Chr15:40751124 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1747C>T (p.Arg583Cys) single nucleotide variant not specified [RCV004235277] Chr15:40462226 [GRCh38]
Chr15:40754425 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.931C>T (p.Arg311Cys) single nucleotide variant not specified [RCV004215356] Chr15:40459395 [GRCh38]
Chr15:40751594 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.100G>A (p.Val34Ile) single nucleotide variant not specified [RCV004165399] Chr15:40458564 [GRCh38]
Chr15:40750763 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.740C>G (p.Pro247Arg) single nucleotide variant not specified [RCV004197539] Chr15:40459204 [GRCh38]
Chr15:40751403 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1594G>C (p.Ala532Pro) single nucleotide variant not specified [RCV004139010] Chr15:40462073 [GRCh38]
Chr15:40754272 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1757G>A (p.Arg586His) single nucleotide variant not specified [RCV004074291] Chr15:40462236 [GRCh38]
Chr15:40754435 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1552G>A (p.Val518Ile) single nucleotide variant not specified [RCV004139389] Chr15:40462031 [GRCh38]
Chr15:40754230 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.680G>A (p.Arg227His) single nucleotide variant not specified [RCV004139576] Chr15:40459144 [GRCh38]
Chr15:40751343 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.578C>T (p.Pro193Leu) single nucleotide variant not specified [RCV004227560] Chr15:40459042 [GRCh38]
Chr15:40751241 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.457C>T (p.Arg153Cys) single nucleotide variant not specified [RCV004096607] Chr15:40458921 [GRCh38]
Chr15:40751120 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1402G>A (p.Gly468Ser) single nucleotide variant not specified [RCV004206873] Chr15:40459866 [GRCh38]
Chr15:40752065 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1750C>T (p.Arg584Cys) single nucleotide variant not specified [RCV004123040] Chr15:40462229 [GRCh38]
Chr15:40754428 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.431G>A (p.Arg144His) single nucleotide variant not specified [RCV004231727] Chr15:40458895 [GRCh38]
Chr15:40751094 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.467A>T (p.Asp156Val) single nucleotide variant not specified [RCV004246713] Chr15:40458931 [GRCh38]
Chr15:40751130 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1291C>A (p.Pro431Thr) single nucleotide variant not specified [RCV004129525] Chr15:40459755 [GRCh38]
Chr15:40751954 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.83G>A (p.Ser28Asn) single nucleotide variant not specified [RCV004135624] Chr15:40458547 [GRCh38]
Chr15:40750746 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1567A>G (p.Thr523Ala) single nucleotide variant not specified [RCV004166891] Chr15:40462046 [GRCh38]
Chr15:40754245 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.542G>A (p.Arg181Gln) single nucleotide variant not specified [RCV004095446] Chr15:40459006 [GRCh38]
Chr15:40751205 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.2024A>C (p.Gln675Pro) single nucleotide variant not specified [RCV004163378] Chr15:40464519 [GRCh38]
Chr15:40756718 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1664G>C (p.Cys555Ser) single nucleotide variant not specified [RCV004090551] Chr15:40462143 [GRCh38]
Chr15:40754342 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1504C>G (p.Pro502Ala) single nucleotide variant not specified [RCV004092244] Chr15:40461983 [GRCh38]
Chr15:40754182 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.368A>G (p.Asn123Ser) single nucleotide variant not specified [RCV004179401] Chr15:40458832 [GRCh38]
Chr15:40751031 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.541C>T (p.Arg181Trp) single nucleotide variant not specified [RCV004074674] Chr15:40459005 [GRCh38]
Chr15:40751204 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.584G>A (p.Arg195Gln) single nucleotide variant not specified [RCV004187712] Chr15:40459048 [GRCh38]
Chr15:40751247 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1577C>T (p.Ser526Leu) single nucleotide variant not specified [RCV004089751] Chr15:40462056 [GRCh38]
Chr15:40754255 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1357G>A (p.Gly453Arg) single nucleotide variant not specified [RCV004332579] Chr15:40459821 [GRCh38]
Chr15:40752020 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.324C>A (p.Asp108Glu) single nucleotide variant not specified [RCV004254937] Chr15:40458788 [GRCh38]
Chr15:40750987 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.464G>A (p.Arg155His) single nucleotide variant not specified [RCV004330734] Chr15:40458928 [GRCh38]
Chr15:40751127 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1730G>A (p.Arg577His) single nucleotide variant not specified [RCV004263244] Chr15:40462209 [GRCh38]
Chr15:40754408 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.2257C>G (p.Pro753Ala) single nucleotide variant not specified [RCV004273156] Chr15:40466044 [GRCh38]
Chr15:40758243 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1672A>G (p.Thr558Ala) single nucleotide variant not specified [RCV004347729] Chr15:40462151 [GRCh38]
Chr15:40754350 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.155G>A (p.Arg52His) single nucleotide variant not specified [RCV004341750] Chr15:40458619 [GRCh38]
Chr15:40750818 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1844G>A (p.Ser615Asn) single nucleotide variant not specified [RCV004355366] Chr15:40463889 [GRCh38]
Chr15:40756088 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_014952.5(BAHD1):c.1225G>A (p.Ala409Thr) single nucleotide variant not specified [RCV004423754] Chr15:40459689 [GRCh38]
Chr15:40751888 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1226C>T (p.Ala409Val) single nucleotide variant not specified [RCV004423755] Chr15:40459690 [GRCh38]
Chr15:40751889 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1601C>G (p.Ala534Gly) single nucleotide variant not specified [RCV004423757] Chr15:40462080 [GRCh38]
Chr15:40754279 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.718C>G (p.Pro240Ala) single nucleotide variant not specified [RCV004423763] Chr15:40459182 [GRCh38]
Chr15:40751381 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.863C>A (p.Pro288His) single nucleotide variant not specified [RCV004423764] Chr15:40459327 [GRCh38]
Chr15:40751526 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1192A>G (p.Met398Val) single nucleotide variant not specified [RCV004423752] Chr15:40459656 [GRCh38]
Chr15:40751855 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1682G>C (p.Ser561Thr) single nucleotide variant not specified [RCV004423758] Chr15:40462161 [GRCh38]
Chr15:40754360 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1061C>T (p.Pro354Leu) single nucleotide variant not specified [RCV004423751] Chr15:40459525 [GRCh38]
Chr15:40751724 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1328A>G (p.Asp443Gly) single nucleotide variant not specified [RCV004423756] Chr15:40459792 [GRCh38]
Chr15:40751991 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1711A>C (p.Lys571Gln) single nucleotide variant not specified [RCV004423759] Chr15:40462190 [GRCh38]
Chr15:40754389 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.2298T>A (p.His766Gln) single nucleotide variant not specified [RCV004423761] Chr15:40466085 [GRCh38]
Chr15:40758284 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.430C>T (p.Arg144Cys) single nucleotide variant not specified [RCV004423762] Chr15:40458894 [GRCh38]
Chr15:40751093 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.914A>G (p.Glu305Gly) single nucleotide variant not specified [RCV004423765] Chr15:40459378 [GRCh38]
Chr15:40751577 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.686A>G (p.His229Arg) single nucleotide variant not specified [RCV004605532] Chr15:40459150 [GRCh38]
Chr15:40751349 [GRCh37]
Chr15:15q15.1		 uncertain significance
NC_000015.9:g.(?_38545387)_(42105565_?)dup duplication Mosaic variegated aneuploidy syndrome 1 [RCV004583016] Chr15:38545387..42105565 [GRCh37]
Chr15:15q14-15.1		 uncertain significance
NM_014952.5(BAHD1):c.655C>T (p.Arg219Trp) single nucleotide variant not specified [RCV004605524] Chr15:40459119 [GRCh38]
Chr15:40751318 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.509G>A (p.Arg170Gln) single nucleotide variant not specified [RCV004605527] Chr15:40458973 [GRCh38]
Chr15:40751172 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1252G>C (p.Ala418Pro) single nucleotide variant not specified [RCV004605529] Chr15:40459716 [GRCh38]
Chr15:40751915 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.152G>A (p.Arg51His) single nucleotide variant not specified [RCV004605533] Chr15:40458616 [GRCh38]
Chr15:40750815 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1594G>A (p.Ala532Thr) single nucleotide variant not specified [RCV004605525] Chr15:40462073 [GRCh38]
Chr15:40754272 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1736G>A (p.Arg579His) single nucleotide variant not specified [RCV004605528] Chr15:40462215 [GRCh38]
Chr15:40754414 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1067C>T (p.Pro356Leu) single nucleotide variant not specified [RCV004605526] Chr15:40459531 [GRCh38]
Chr15:40751730 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_014952.5(BAHD1):c.1138T>C (p.Tyr380His) single nucleotide variant not specified [RCV004605530] Chr15:40459602 [GRCh38]
Chr15:40751801 [GRCh37]
Chr15:15q15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3957
Count of miRNA genes:818
Interacting mature miRNAs:949
Transcripts:ENST00000416165, ENST00000560846, ENST00000561234, ENST00000561464
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
407095047GWAS744023_Hmetabolite measurement QTL GWAS744023 (human)4e-09metabolite measurement154043846040438461Human
406926829GWAS575805_Hhigh density lipoprotein cholesterol measurement QTL GWAS575805 (human)2e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)154045184740451848Human
407116200GWAS765176_Hmean reticulocyte volume QTL GWAS765176 (human)2e-16reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)154045651940456520Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
407116714GWAS765690_Htriglyceride measurement QTL GWAS765690 (human)6e-12triglyceride measurementblood triglyceride level (CMO:0000118)154045935640459357Human
407289576GWAS938552_Hhigh density lipoprotein cholesterol measurement QTL GWAS938552 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)154045935640459357Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
407285338GWAS934314_Hhigh density lipoprotein cholesterol measurement QTL GWAS934314 (human)2e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)154045935640459357Human
407114426GWAS763402_Htriglyceride measurement QTL GWAS763402 (human)0.0000005triglyceride measurementblood triglyceride level (CMO:0000118)154045935640459357Human

Markers in Region
STS-N50033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,760,132 - 40,760,381UniSTSGRCh37
Build 361538,547,424 - 38,547,673RGDNCBI36
Celera1517,526,276 - 17,526,525RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,603,990 - 17,604,239UniSTS
GeneMap99-GB4 RH Map15128.95UniSTS
RH91414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,760,202 - 40,760,353UniSTSGRCh37
Build 361538,547,494 - 38,547,645RGDNCBI36
Celera1517,526,346 - 17,526,497RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,604,060 - 17,604,211UniSTS
GeneMap99-GB4 RH Map15127.27UniSTS
BAHD1_9281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,759,546 - 40,760,435UniSTSGRCh37
Build 361538,546,838 - 38,547,727RGDNCBI36
Celera1517,525,690 - 17,526,579RGD
HuRef1517,603,404 - 17,604,293UniSTS
D15S486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,737,961 - 40,738,194UniSTSGRCh37
Build 361538,525,253 - 38,525,486RGDNCBI36
Celera1517,504,109 - 17,504,342RGD
HuRef1517,581,118 - 17,581,351UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4973 1726 2351 5 623 1950 465 2269 7303 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001301132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY041603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY353002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000416165   ⟹   ENSP00000396976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,440,953 - 40,468,236 (+)Ensembl
Ensembl Acc Id: ENST00000560846   ⟹   ENSP00000454101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,458,465 - 40,468,228 (+)Ensembl
Ensembl Acc Id: ENST00000561234   ⟹   ENSP00000454150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,439,721 - 40,468,229 (+)Ensembl
Ensembl Acc Id: ENST00000561464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,464,910 - 40,466,004 (+)Ensembl
RefSeq Acc Id: NM_001301132   ⟹   NP_001288061
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,439,757 - 40,468,236 (+)NCBI
CHM1_11540,852,097 - 40,880,604 (+)NCBI
T2T-CHM13v2.01538,247,131 - 38,275,586 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001411044   ⟹   NP_001397973
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,441,410 - 40,468,236 (+)NCBI
T2T-CHM13v2.01538,248,784 - 38,275,586 (+)NCBI
RefSeq Acc Id: NM_014952   ⟹   NP_055767
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,440,953 - 40,468,236 (+)NCBI
GRCh371540,733,411 - 40,760,441 (+)RGD
Build 361538,520,703 - 38,547,733 (+)NCBI Archive
Celera1517,499,558 - 17,526,585 (+)RGD
HuRef1517,594,508 - 17,604,299 (+)ENTREZGENE
CHM1_11540,853,543 - 40,880,604 (+)NCBI
T2T-CHM13v2.01538,248,327 - 38,275,586 (+)NCBI
Sequence:
RefSeq Acc Id: NR_125372
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,440,953 - 40,468,236 (+)NCBI
CHM1_11540,853,543 - 40,880,604 (+)NCBI
T2T-CHM13v2.01538,248,327 - 38,275,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521366   ⟹   XP_011519668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,443,350 - 40,468,236 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521367   ⟹   XP_011519669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,443,349 - 40,468,236 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521368   ⟹   XP_011519670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,443,350 - 40,468,236 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521369   ⟹   XP_011519671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,437,452 - 40,468,236 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432241   ⟹   XP_047288197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,443,349 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432242   ⟹   XP_047288198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,440,118 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432243   ⟹   XP_047288199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,442,440 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432244   ⟹   XP_047288200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,437,452 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432245   ⟹   XP_047288201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,437,452 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432246   ⟹   XP_047288202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,440,953 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432247   ⟹   XP_047288203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,440,953 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_047432249   ⟹   XP_047288205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,441,432 - 40,468,236 (+)NCBI
RefSeq Acc Id: XM_054377514   ⟹   XP_054233489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,252,668 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377515   ⟹   XP_054233490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,252,663 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377516   ⟹   XP_054233491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,252,668 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377517   ⟹   XP_054233492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,252,665 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377518   ⟹   XP_054233493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,247,453 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377519   ⟹   XP_054233494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,249,814 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377520   ⟹   XP_054233495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,247,131 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377521   ⟹   XP_054233496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,248,327 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377522   ⟹   XP_054233497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,248,327 - 38,275,586 (+)NCBI
RefSeq Acc Id: XM_054377523   ⟹   XP_054233498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01538,248,806 - 38,275,586 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001288061 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397973 (Get FASTA)   NCBI Sequence Viewer  
  NP_055767 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519668 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519669 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519670 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519671 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288197 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288198 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288199 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288200 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288201 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288202 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288203 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233489 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233491 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233492 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233495 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233497 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233498 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22782 (Get FASTA)   NCBI Sequence Viewer  
  BAA76789 (Get FASTA)   NCBI Sequence Viewer  
  CAD38779 (Get FASTA)   NCBI Sequence Viewer  
  EAW92416 (Get FASTA)   NCBI Sequence Viewer  
  EAW92417 (Get FASTA)   NCBI Sequence Viewer  
  EAW92418 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000396976
  ENSP00000396976.1
  ENSP00000454101
  ENSP00000454101.1
  ENSP00000454150
  ENSP00000454150.1
GenBank Protein Q8TBE0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055767   ⟸   NM_014952
- Peptide Label: isoform a
- UniProtKB: Q8NDF7 (UniProtKB/Swiss-Prot),   Q9Y2F4 (UniProtKB/Swiss-Prot),   Q8TBE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288061   ⟸   NM_001301132
- Peptide Label: isoform b
- UniProtKB: Q8TBE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519671   ⟸   XM_011521369
- Peptide Label: isoform X7
- UniProtKB: Q8NDF7 (UniProtKB/Swiss-Prot),   Q9Y2F4 (UniProtKB/Swiss-Prot),   Q8TBE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519669   ⟸   XM_011521367
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011519668   ⟸   XM_011521366
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519670   ⟸   XM_011521368
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000396976   ⟸   ENST00000416165
Ensembl Acc Id: ENSP00000454101   ⟸   ENST00000560846
Ensembl Acc Id: ENSP00000454150   ⟸   ENST00000561234
RefSeq Acc Id: XP_047288200   ⟸   XM_047432244
- Peptide Label: isoform X7
- UniProtKB: Q8TBE0 (UniProtKB/Swiss-Prot),   Q8NDF7 (UniProtKB/Swiss-Prot),   Q9Y2F4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047288201   ⟸   XM_047432245
- Peptide Label: isoform X7
- UniProtKB: Q8TBE0 (UniProtKB/Swiss-Prot),   Q8NDF7 (UniProtKB/Swiss-Prot),   Q9Y2F4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047288198   ⟸   XM_047432242
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288203   ⟸   XM_047432247
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047288202   ⟸   XM_047432246
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047288205   ⟸   XM_047432249
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047288199   ⟸   XM_047432243
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047288197   ⟸   XM_047432241
- Peptide Label: isoform X4
RefSeq Acc Id: NP_001397973   ⟸   NM_001411044
- Peptide Label: isoform c
RefSeq Acc Id: XP_054233495   ⟸   XM_054377520
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054233493   ⟸   XM_054377518
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233497   ⟸   XM_054377522
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054233496   ⟸   XM_054377521
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054233498   ⟸   XM_054377523
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054233494   ⟸   XM_054377519
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054233490   ⟸   XM_054377515
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233492   ⟸   XM_054377517
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054233489   ⟸   XM_054377514
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233491   ⟸   XM_054377516
- Peptide Label: isoform X3
Protein Domains
BAH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TBE0-F1-model_v2 AlphaFold Q8TBE0 1-780 view protein structure

Promoters
RGD ID:6792117
Promoter ID:HG_KWN:21044
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:UC001ZLT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,519,176 - 38,519,676 (+)MPROMDB
RGD ID:6792115
Promoter ID:HG_KWN:21045
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014952,   UC010BBP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,520,326 - 38,521,182 (+)MPROMDB
RGD ID:6810722
Promoter ID:HG_ACW:25645
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:BAHD1.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,544,591 - 38,545,091 (+)MPROMDB
RGD ID:7229103
Promoter ID:EPDNEW_H20298
Type:initiation region
Name:BAHD1_2
Description:bromo adjacent homology domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20299  EPDNEW_H20300  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,439,757 - 40,439,817EPDNEW
RGD ID:7229105
Promoter ID:EPDNEW_H20299
Type:initiation region
Name:BAHD1_3
Description:bromo adjacent homology domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20298  EPDNEW_H20300  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,440,953 - 40,441,013EPDNEW
RGD ID:7229109
Promoter ID:EPDNEW_H20300
Type:initiation region
Name:BAHD1_1
Description:bromo adjacent homology domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20298  EPDNEW_H20299  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,441,206 - 40,441,266EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29153 AgrOrtholog
COSMIC BAHD1 COSMIC
Ensembl Genes ENSG00000140320 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000416165 ENTREZGENE
  ENST00000416165.6 UniProtKB/Swiss-Prot
  ENST00000560846 ENTREZGENE
  ENST00000560846.1 UniProtKB/Swiss-Prot
  ENST00000561234 ENTREZGENE
  ENST00000561234.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.490 UniProtKB/Swiss-Prot
GTEx ENSG00000140320 GTEx
HGNC ID HGNC:29153 ENTREZGENE
Human Proteome Map BAHD1 Human Proteome Map
InterPro BAH_dom UniProtKB/Swiss-Prot
  BAH_domain-containing UniProtKB/Swiss-Prot
  BAH_sf UniProtKB/Swiss-Prot
KEGG Report hsa:22893 UniProtKB/Swiss-Prot
NCBI Gene 22893 ENTREZGENE
OMIM 613880 OMIM
PANTHER BROMO ADJACENT HOMOLOGY DOMAIN-CONTAINING 1 PROTEIN UniProtKB/Swiss-Prot
  BROMO ADJACENT HOMOLOGY DOMAIN-CONTAINING 1 PROTEIN UniProtKB/Swiss-Prot
Pfam BAH UniProtKB/Swiss-Prot
PharmGKB PA128394592 PharmGKB
PROSITE BAH UniProtKB/Swiss-Prot
SMART BAH UniProtKB/Swiss-Prot
UniProt BAHD1_HUMAN UniProtKB/Swiss-Prot
  Q8NDF7 ENTREZGENE
  Q8TBE0 ENTREZGENE
  Q9Y2F4 ENTREZGENE
UniProt Secondary Q8NDF7 UniProtKB/Swiss-Prot
  Q9Y2F4 UniProtKB/Swiss-Prot