BCLAF1 (BCL2 associated transcription factor 1) - Rat Genome Database

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Gene: BCLAF1 (BCL2 associated transcription factor 1) Homo sapiens
Analyze
Symbol: BCLAF1
Name: BCL2 associated transcription factor 1
RGD ID: 1320189
HGNC Page HGNC:16863
Description: Enables DNA binding activity. Involved in DNA damage response; positive regulation of DNA-templated transcription initiation; and positive regulation of intrinsic apoptotic signaling pathway. Acts upstream of or within negative regulation of DNA-templated transcription and positive regulation of apoptotic process. Located in nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bcl-2-associated transcription factor 1; BCL2-associated transcription factor 1; BCLAF1 and THRAP3 family member 1; bK211L9.1; BTF; KIAA0164
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: BCLAF1P1   BCLAF1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386136,256,627 - 136,289,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6136,256,627 - 136,289,851 (-)EnsemblGRCh38hg38GRCh38
GRCh376136,577,765 - 136,610,984 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366136,619,694 - 136,652,682 (-)NCBINCBI36Build 36hg18NCBI36
Build 346136,621,418 - 136,652,682NCBI
Celera6137,318,441 - 137,351,433 (-)NCBICelera
Cytogenetic Map6q23.3NCBI
HuRef6134,142,584 - 134,175,576 (-)NCBIHuRef
CHM1_16136,840,527 - 136,873,516 (-)NCBICHM1_1
T2T-CHM13v2.06137,444,735 - 137,477,958 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brevetoxin B  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
capsaicin  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cypermethrin  (EXP)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP,ISO)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
eugenol  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
hexadecanoic acid  (EXP)
hexane  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
PF-3758309  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
succimer  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
testosterone enanthate  (EXP)
tetraphene  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8724849   PMID:10330179   PMID:10837489   PMID:12477932   PMID:12890497   PMID:14574404   PMID:15009215   PMID:15302935   PMID:15324660   PMID:15489334   PMID:15659558   PMID:15681850  
PMID:16055720   PMID:16083285   PMID:16159877   PMID:16565220   PMID:16964243   PMID:17081983   PMID:17353931   PMID:17620599   PMID:17938203   PMID:18029348   PMID:18271526   PMID:18976975  
PMID:19705920   PMID:20020773   PMID:20360068   PMID:20661537   PMID:20855536   PMID:21145461   PMID:21182205   PMID:21280222   PMID:21282530   PMID:21454709   PMID:21873635   PMID:22113938  
PMID:22645331   PMID:22658674   PMID:22681889   PMID:22833098   PMID:22952844   PMID:22990118   PMID:23184937   PMID:23211419   PMID:23364796   PMID:23383273   PMID:23398456   PMID:23541952  
PMID:23602568   PMID:23752268   PMID:23778535   PMID:23824909   PMID:24100041   PMID:24337577   PMID:24389646   PMID:24457600   PMID:24657165   PMID:24711643   PMID:24797263   PMID:24984263  
PMID:25091051   PMID:25262651   PMID:25281560   PMID:25544563   PMID:25662211   PMID:25737280   PMID:25798074   PMID:25921289   PMID:25944111   PMID:26167880   PMID:26183150   PMID:26186194  
PMID:26344197   PMID:26460568   PMID:26496610   PMID:26522984   PMID:26527279   PMID:26673895   PMID:26676636   PMID:26687479   PMID:26693507   PMID:26794446   PMID:26912792   PMID:27030811  
PMID:27114453   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27684187   PMID:28065597   PMID:28216661   PMID:28263302   PMID:28302793   PMID:28514442   PMID:28524877   PMID:28700943  
PMID:28864293   PMID:28927264   PMID:28977666   PMID:29112714   PMID:29128334   PMID:29180619   PMID:29262337   PMID:29298432   PMID:29395067   PMID:29434030   PMID:29511296   PMID:29721183  
PMID:29802200   PMID:29844126   PMID:29884807   PMID:29934401   PMID:29991511   PMID:30015413   PMID:30021884   PMID:30209976   PMID:30258100   PMID:30320910   PMID:30344098   PMID:30349055  
PMID:30367150   PMID:30404004   PMID:30585729   PMID:30661852   PMID:30804502   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31010829   PMID:31059266  
PMID:31076518   PMID:31091453   PMID:31177093   PMID:31180492   PMID:31300519   PMID:31363146   PMID:31409639   PMID:31527668   PMID:31586073   PMID:31594818   PMID:31870774   PMID:31980649  
PMID:32029898   PMID:32041737   PMID:32416067   PMID:32460013   PMID:32529326   PMID:32538781   PMID:32683582   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32780723   PMID:32807901  
PMID:32929329   PMID:32971831   PMID:32994395   PMID:33022573   PMID:33024031   PMID:33111431   PMID:33301849   PMID:33644029   PMID:33658012   PMID:33731348   PMID:33916271   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34189442   PMID:34244482   PMID:34244565   PMID:34251713   PMID:34349018   PMID:34373451   PMID:34490482   PMID:34728620   PMID:34857952   PMID:35013218  
PMID:35182466   PMID:35235311   PMID:35256949   PMID:35264565   PMID:35271311   PMID:35487060   PMID:35559673   PMID:35575683   PMID:35652658   PMID:35660018   PMID:35819319   PMID:35831314  
PMID:35844135   PMID:35850772   PMID:35896951   PMID:35944360   PMID:35987950   PMID:36042349   PMID:36057605   PMID:36114006   PMID:36123327   PMID:36199071   PMID:36215168   PMID:36217030  
PMID:36232890   PMID:36243803   PMID:36244648   PMID:36339263   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36574265   PMID:36736316   PMID:36861887   PMID:37071682   PMID:37108203  
PMID:37117180   PMID:37132043   PMID:37298108   PMID:37314216   PMID:37468549   PMID:37689310   PMID:37794589   PMID:37827155   PMID:37906282   PMID:38113892   PMID:38172120   PMID:38198022  
PMID:38270169   PMID:38280479   PMID:38334954   PMID:38340178   PMID:38636894   PMID:38697112   PMID:38805063   PMID:39231216   PMID:39238192   PMID:39358380   PMID:39366174   PMID:39522233  


Genomics

Comparative Map Data
BCLAF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386136,256,627 - 136,289,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6136,256,627 - 136,289,851 (-)EnsemblGRCh38hg38GRCh38
GRCh376136,577,765 - 136,610,984 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366136,619,694 - 136,652,682 (-)NCBINCBI36Build 36hg18NCBI36
Build 346136,621,418 - 136,652,682NCBI
Celera6137,318,441 - 137,351,433 (-)NCBICelera
Cytogenetic Map6q23.3NCBI
HuRef6134,142,584 - 134,175,576 (-)NCBIHuRef
CHM1_16136,840,527 - 136,873,516 (-)NCBICHM1_1
T2T-CHM13v2.06137,444,735 - 137,477,958 (-)NCBIT2T-CHM13v2.0
Bclaf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391020,187,897 - 20,218,390 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1020,188,215 - 20,220,359 (+)EnsemblGRCm39 Ensembl
GRCm381020,310,512 - 20,342,644 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1020,312,469 - 20,344,613 (+)EnsemblGRCm38mm10GRCm38
MGSCv371020,032,275 - 20,062,307 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361020,001,885 - 20,031,917 (+)NCBIMGSCv36mm8
Celera1020,201,333 - 20,231,349 (+)NCBICelera
Cytogenetic Map10A3NCBI
cM Map109.75NCBI
Bclaf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8116,904,572 - 16,937,106 (+)NCBIGRCr8
mRatBN7.2115,088,436 - 15,117,666 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl115,070,894 - 15,148,832 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx114,842,676 - 14,869,479 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0120,844,610 - 20,871,413 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0115,068,422 - 15,095,207 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0115,799,753 - 15,828,838 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl115,782,477 - 15,860,624 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0117,344,231 - 17,373,316 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4115,605,220 - 15,632,005 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1115,605,283 - 15,634,268 (+)NCBI
Celera113,519,166 - 13,545,951 (+)NCBICelera
Cytogenetic Map1p12NCBI
Bclaf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955439608,861 - 641,005 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955439608,849 - 641,005 (+)NCBIChiLan1.0ChiLan1.0
BCLAF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25156,229,451 - 156,262,590 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16154,128,230 - 154,160,800 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06134,023,195 - 134,054,507 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16138,111,309 - 138,144,098 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6138,115,451 - 138,137,108 (-)Ensemblpanpan1.1panPan2
BCLAF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1128,852,654 - 28,882,095 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl128,855,041 - 28,882,006 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha129,730,810 - 29,760,326 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0129,008,040 - 29,037,548 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl129,008,044 - 29,037,461 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1128,894,237 - 28,923,741 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0128,777,218 - 28,806,716 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0129,077,927 - 29,107,433 (-)NCBIUU_Cfam_GSD_1.0
Bclaf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946123,901,929 - 123,932,600 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365603,680,657 - 3,712,004 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365603,681,145 - 3,711,831 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCLAF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl127,872,183 - 27,902,974 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1127,872,167 - 27,902,980 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2131,490,843 - 31,521,703 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCLAF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11337,133,898 - 37,165,296 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1337,143,772 - 37,166,793 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660409,323,651 - 9,356,248 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bclaf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248861,394,588 - 1,424,778 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248861,394,556 - 1,424,294 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BCLAF1
69 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1 copy number loss See cases [RCV000052200] Chr6:135249940..136439720 [GRCh38]
Chr6:135571078..136760858 [GRCh37]
Chr6:135612771..136802551 [NCBI36]
Chr6:6q23.3		 pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014739.3(BCLAF1):c.2743C>T (p.Arg915Cys) single nucleotide variant not specified [RCV000454720] Chr6:136261279 [GRCh38]
Chr6:136582417 [GRCh37]
Chr6:6q23.3		 benign
NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His) single nucleotide variant BCLAF1-related disorder [RCV003972664]|not specified [RCV000454874] Chr6:136269560 [GRCh38]
Chr6:136590698 [GRCh37]
Chr6:6q23.3		 benign
NM_014739.3(BCLAF1):c.2663C>A (p.Thr888Asn) single nucleotide variant BCLAF1-related disorder [RCV003972663]|not specified [RCV000455334] Chr6:136261359 [GRCh38]
Chr6:136582497 [GRCh37]
Chr6:6q23.3		 benign
NM_014739.3(BCLAF1):c.628G>A (p.Gly210Ser) single nucleotide variant not specified [RCV000455555] Chr6:136278253 [GRCh38]
Chr6:136599391 [GRCh37]
Chr6:6q23.3		 benign|likely benign
NM_014739.3(BCLAF1):c.2397+1G>C single nucleotide variant not specified [RCV000456045] Chr6:136268161 [GRCh38]
Chr6:136589299 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2272C>A (p.Pro758Thr) single nucleotide variant BCLAF1-related disorder [RCV003925306]|not specified [RCV000456074] Chr6:136268287 [GRCh38]
Chr6:136589425 [GRCh37]
Chr6:6q23.3		 benign|likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1 copy number loss See cases [RCV000510451] Chr6:133077239..143761582 [GRCh37]
Chr6:6q23.2-24.2		 pathogenic
GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1 copy number loss not provided [RCV000682724] Chr6:131388023..137469640 [GRCh37]
Chr6:6q23.2-23.3		 pathogenic
GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1 copy number loss not provided [RCV000682725] Chr6:132002460..137160850 [GRCh37]
Chr6:6q23.2-23.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014739.3(BCLAF1):c.1887C>T (p.Asn629=) single nucleotide variant not provided [RCV000925237] Chr6:136273153 [GRCh38]
Chr6:136594291 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.1923A>G (p.Glu641=) single nucleotide variant not provided [RCV000927511] Chr6:136273117 [GRCh38]
Chr6:136594255 [GRCh37]
Chr6:6q23.3		 likely benign
GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510) copy number loss not provided [RCV000767713] Chr6:135239633..146997510 [GRCh37]
Chr6:6q23.3-24.3		 pathogenic
NM_014739.3(BCLAF1):c.-114-2_-114-1insTCGGCGTGTC insertion Epidermolysis bullosa simplex with nail dystrophy [RCV001089665] Chr6:136282688..136282689 [GRCh38]
Chr6:136603826..136603827 [GRCh37]
Chr6:6q23.3		 uncertain significance
NC_000006.11:g.(?_136482728)_(137540520_?)del deletion Immunodeficiency 27A [RCV001031275] Chr6:136482728..137540520 [GRCh37]
Chr6:6q23.3		 pathogenic
GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1 copy number loss not provided [RCV001005848] Chr6:133817341..140038401 [GRCh37]
Chr6:6q23.2-24.1		 pathogenic
GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1 copy number loss not provided [RCV001249247] Chr6:135936688..140660269 [GRCh37]
Chr6:6q23.3-24.1		 not provided
NM_014739.3(BCLAF1):c.-114-2_-114-1insC insertion Fraser syndrome 3 [RCV001251005] Chr6:136282688..136282689 [GRCh38]
Chr6:136603826..136603827 [GRCh37]
Chr6:6q23.3		 uncertain significance
GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1 copy number loss not provided [RCV001537931] Chr6:133810210..140046615 [GRCh37]
Chr6:6q23.2-24.1		 pathogenic
Single allele deletion Autoinflammatory syndrome, familial, Behcet-like [RCV002247731] Chr6:134838331..142160056 [GRCh38]
Chr6:6q23.3-24.1		 pathogenic
NM_014739.3(BCLAF1):c.1320C>A (p.Ser440=) single nucleotide variant not specified [RCV004058366] Chr6:136276205 [GRCh38]
Chr6:136597343 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.139C>T (p.Arg47Cys) single nucleotide variant not specified [RCV004057128] Chr6:136278742 [GRCh38]
Chr6:136599880 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1401A>G (p.Val467=) single nucleotide variant not specified [RCV004057141] Chr6:136276124 [GRCh38]
Chr6:136597262 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.2181A>G (p.Pro727=) single nucleotide variant not specified [RCV004061145] Chr6:136269475 [GRCh38]
Chr6:136590613 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.1338C>A (p.Gly446=) single nucleotide variant not specified [RCV004058712] Chr6:136276187 [GRCh38]
Chr6:136597325 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.401G>T (p.Arg134Ile) single nucleotide variant not specified [RCV004051145] Chr6:136278480 [GRCh38]
Chr6:136599618 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.967C>A (p.Pro323Thr) single nucleotide variant not specified [RCV004057001] Chr6:136277914 [GRCh38]
Chr6:136599052 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1008C>A (p.Phe336Leu) single nucleotide variant not specified [RCV004063274] Chr6:136277873 [GRCh38]
Chr6:136599011 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1659T>C (p.Pro553=) single nucleotide variant not specified [RCV004059761] Chr6:136275866 [GRCh38]
Chr6:136597004 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.2082G>A (p.Arg694=) single nucleotide variant not specified [RCV004060268] Chr6:136269574 [GRCh38]
Chr6:136590712 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.1834T>G (p.Leu612Val) single nucleotide variant not specified [RCV004059437] Chr6:136275550 [GRCh38]
Chr6:136596688 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1707G>C (p.Arg569Ser) single nucleotide variant not specified [RCV004060552] Chr6:136275677 [GRCh38]
Chr6:136596815 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.944C>A (p.Ser315Tyr) single nucleotide variant not specified [RCV004056809] Chr6:136277937 [GRCh38]
Chr6:136599075 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.939T>G (p.Asp313Glu) single nucleotide variant not specified [RCV004055732] Chr6:136277942 [GRCh38]
Chr6:136599080 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1832C>T (p.Ser611Phe) single nucleotide variant not specified [RCV004219891] Chr6:136275552 [GRCh38]
Chr6:136596690 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.100T>C (p.Tyr34His) single nucleotide variant not specified [RCV004088159] Chr6:136279767 [GRCh38]
Chr6:136600905 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser) single nucleotide variant Pulmonary artery atresia [RCV002512188] Chr6:136278068 [GRCh38]
Chr6:136599206 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_014739.3(BCLAF1):c.493C>A (p.Gln165Lys) single nucleotide variant Pulmonary artery atresia [RCV002512179] Chr6:136278388 [GRCh38]
Chr6:136599526 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_014739.3(BCLAF1):c.358G>T (p.Val120Phe) single nucleotide variant not specified [RCV004227627] Chr6:136278523 [GRCh38]
Chr6:136599661 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.248G>T (p.Gly83Val) single nucleotide variant not specified [RCV004220979] Chr6:136278633 [GRCh38]
Chr6:136599771 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1286G>A (p.Arg429Gln) single nucleotide variant not specified [RCV004212887] Chr6:136276239 [GRCh38]
Chr6:136597377 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2272C>T (p.Pro758Ser) single nucleotide variant not specified [RCV004241164] Chr6:136268287 [GRCh38]
Chr6:136589425 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1622A>C (p.Asp541Ala) single nucleotide variant not specified [RCV004114708] Chr6:136275903 [GRCh38]
Chr6:136597041 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2288C>T (p.Ser763Phe) single nucleotide variant not specified [RCV004086678] Chr6:136268271 [GRCh38]
Chr6:136589409 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.200T>C (p.Met67Thr) single nucleotide variant not specified [RCV004239478] Chr6:136278681 [GRCh38]
Chr6:136599819 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.392G>A (p.Arg131Gln) single nucleotide variant not specified [RCV004224447] Chr6:136278489 [GRCh38]
Chr6:136599627 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1196G>A (p.Gly399Glu) single nucleotide variant not specified [RCV004185547] Chr6:136276329 [GRCh38]
Chr6:136597467 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1424A>G (p.Lys475Arg) single nucleotide variant not specified [RCV004215860] Chr6:136276101 [GRCh38]
Chr6:136597239 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2282C>T (p.Pro761Leu) single nucleotide variant not specified [RCV004232422] Chr6:136268277 [GRCh38]
Chr6:136589415 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1876A>G (p.Met626Val) single nucleotide variant not specified [RCV004104615] Chr6:136273164 [GRCh38]
Chr6:136594302 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.1940A>G (p.Lys647Arg) single nucleotide variant not specified [RCV004094047] Chr6:136273100 [GRCh38]
Chr6:136594238 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.332G>A (p.Arg111His) single nucleotide variant not specified [RCV004224869] Chr6:136278549 [GRCh38]
Chr6:136599687 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1555C>A (p.Leu519Met) single nucleotide variant not specified [RCV004311215] Chr6:136275970 [GRCh38]
Chr6:136597108 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1464A>G (p.Ile488Met) single nucleotide variant not specified [RCV004287448] Chr6:136276061 [GRCh38]
Chr6:136597199 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.275G>T (p.Gly92Val) single nucleotide variant not specified [RCV004277839] Chr6:136278606 [GRCh38]
Chr6:136599744 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.106T>C (p.Ser36Pro) single nucleotide variant not specified [RCV004327689] Chr6:136278775 [GRCh38]
Chr6:136599913 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.682A>C (p.Ser228Arg) single nucleotide variant not specified [RCV004252242] Chr6:136278199 [GRCh38]
Chr6:136599337 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.982C>A (p.Gln328Lys) single nucleotide variant not specified [RCV004252840] Chr6:136277899 [GRCh38]
Chr6:136599037 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1954C>A (p.His652Asn) single nucleotide variant not specified [RCV004357534] Chr6:136273086 [GRCh38]
Chr6:136594224 [GRCh37]
Chr6:6q23.3		 uncertain significance
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3		 pathogenic
NM_014739.3(BCLAF1):c.525A>G (p.Glu175=) single nucleotide variant not provided [RCV003432056] Chr6:136278356 [GRCh38]
Chr6:136599494 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.597C>T (p.Ile199=) single nucleotide variant not provided [RCV003432055] Chr6:136278284 [GRCh38]
Chr6:136599422 [GRCh37]
Chr6:6q23.3		 likely benign
GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 copy number gain not specified [RCV003986663] Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2		 pathogenic
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
NM_014739.3(BCLAF1):c.1039G>C (p.Val347Leu) single nucleotide variant not specified [RCV004418878] Chr6:136276486 [GRCh38]
Chr6:136597624 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2021T>C (p.Val674Ala) single nucleotide variant not specified [RCV004418883] Chr6:136272017 [GRCh38]
Chr6:136593155 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.398A>G (p.Tyr133Cys) single nucleotide variant not specified [RCV004418885] Chr6:136278483 [GRCh38]
Chr6:136599621 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1630C>T (p.Arg544Cys) single nucleotide variant not specified [RCV004418882] Chr6:136275895 [GRCh38]
Chr6:136597033 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2040A>C (p.Gln680His) single nucleotide variant not specified [RCV004418884] Chr6:136271998 [GRCh38]
Chr6:136593136 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.433C>T (p.Arg145Cys) single nucleotide variant not specified [RCV004418886] Chr6:136278448 [GRCh38]
Chr6:136599586 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.694A>G (p.Ile232Val) single nucleotide variant not specified [RCV004418888] Chr6:136278187 [GRCh38]
Chr6:136599325 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2290C>A (p.Arg764=) single nucleotide variant BCLAF1-related disorder [RCV003959040] Chr6:136268269 [GRCh38]
Chr6:136589407 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.476G>A (p.Arg159Gln) single nucleotide variant not specified [RCV004418887] Chr6:136278405 [GRCh38]
Chr6:136599543 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.929C>T (p.Ala310Val) single nucleotide variant not specified [RCV004418889] Chr6:136277952 [GRCh38]
Chr6:136599090 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2044-3_2044-2insCAAA insertion BCLAF1-related disorder [RCV003919738] Chr6:136269614..136269615 [GRCh38]
Chr6:136590752..136590753 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.744C>T (p.Leu248=) single nucleotide variant not provided [RCV003885685] Chr6:136278137 [GRCh38]
Chr6:136599275 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.2648G>A (p.Ser883Asn) single nucleotide variant BCLAF1-related disorder [RCV003914376] Chr6:136261374 [GRCh38]
Chr6:136582512 [GRCh37]
Chr6:6q23.3		 likely benign
NM_014739.3(BCLAF1):c.2154T>G (p.Ser718Arg) single nucleotide variant BCLAF1-related disorder [RCV003979752] Chr6:136269502 [GRCh38]
Chr6:136590640 [GRCh37]
Chr6:6q23.3		 benign
NM_014739.3(BCLAF1):c.1178A>G (p.Lys393Arg) single nucleotide variant not specified [RCV004418880] Chr6:136276347 [GRCh38]
Chr6:136597485 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.152G>A (p.Arg51His) single nucleotide variant not specified [RCV004418881] Chr6:136278729 [GRCh38]
Chr6:136599867 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.2489C>T (p.Pro830Leu) single nucleotide variant not specified [RCV004607019] Chr6:136267084 [GRCh38]
Chr6:136588222 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.267T>A (p.His89Gln) single nucleotide variant not specified [RCV004605890] Chr6:136278614 [GRCh38]
Chr6:136599752 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.191A>G (p.Asn64Ser) single nucleotide variant not specified [RCV004605891] Chr6:136278690 [GRCh38]
Chr6:136599828 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_014739.3(BCLAF1):c.1721C>T (p.Thr574Ile) single nucleotide variant not specified [RCV004605892] Chr6:136275663 [GRCh38]
Chr6:136596801 [GRCh37]
Chr6:6q23.3		 uncertain significance
NC_000006.11:g.(?_135606783)_(138202456_?)del deletion Peroxisome biogenesis disorder 9B [RCV004578717] Chr6:135606783..138202456 [GRCh37]
Chr6:6q23.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7733
Count of miRNA genes:1074
Interacting mature miRNAs:1310
Transcripts:ENST00000031135, ENST00000353331, ENST00000392348, ENST00000476194, ENST00000526228, ENST00000527536, ENST00000527613, ENST00000527759, ENST00000528229, ENST00000529522, ENST00000529826, ENST00000529917, ENST00000530429, ENST00000530767, ENST00000531224, ENST00000532076, ENST00000532384, ENST00000533422, ENST00000533621, ENST00000534269, ENST00000534321, ENST00000534762, ENST00000534792
Prediction methods:Miranda, Rnahybrid, Targetscan
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
596978774GWAS1098293_Hbody height QTL GWAS1098293 (human)2e-09body height (VT:0001253)body height (CMO:0000106)6136278637136278638Human
597297407GWAS1393481_Hbody height QTL GWAS1393481 (human)2e-09body height (VT:0001253)body height (CMO:0000106)6136278637136278638Human
597248019GWAS1344093_Hprostate carcinoma QTL GWAS1344093 (human)0.000006prostate carcinoma6136261399136261400Human

Markers in Region
G20483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,782 - 136,579,918UniSTSGRCh37
Build 366136,621,475 - 136,621,611RGDNCBI36
Celera6137,320,216 - 137,320,352RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,144,359 - 134,144,495UniSTS
A005T27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,782 - 136,579,918UniSTSGRCh37
Build 366136,621,475 - 136,621,611RGDNCBI36
Celera6137,320,216 - 137,320,352RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,144,359 - 134,144,495UniSTS
GeneMap99-GB4 RH Map6543.98UniSTS
NCBI RH Map61538.9UniSTS
RH1522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,758 - 136,579,971UniSTSGRCh37
Build 366136,621,451 - 136,621,664RGDNCBI36
Celera6137,320,192 - 137,320,405RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,144,335 - 134,144,548UniSTS
GeneMap99-GB4 RH Map6547.89UniSTS
NCBI RH Map61538.9UniSTS
RH47371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,192 - 136,579,283UniSTSGRCh37
Build 366136,620,885 - 136,620,976RGDNCBI36
Celera6137,319,632 - 137,319,723RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,143,775 - 134,143,866UniSTS
GeneMap99-GB4 RH Map6549.14UniSTS
NCBI RH Map61538.9UniSTS
RH25382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,978 - 136,580,106UniSTSGRCh37
Build 366136,621,671 - 136,621,799RGDNCBI36
Celera6137,320,412 - 137,320,540RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,144,555 - 134,144,683UniSTS
RH93195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,578,025 - 136,578,126UniSTSGRCh37
Build 366136,619,718 - 136,619,819RGDNCBI36
Celera6137,318,465 - 137,318,566RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,142,608 - 134,142,709UniSTS
GeneMap99-GB4 RH Map6548.1UniSTS
RH124022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,602,057 - 136,602,359UniSTSGRCh37
Build 366136,643,750 - 136,644,052RGDNCBI36
Celera6137,342,497 - 137,342,799RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,166,640 - 134,166,942UniSTS
TNG Radiation Hybrid Map681581.0UniSTS
D6S1538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,506 - 136,579,659UniSTSGRCh37
Build 366136,621,199 - 136,621,352RGDNCBI36
Celera6137,319,946 - 137,320,093RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,144,089 - 134,144,236UniSTS
GDB:451730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,589,308 - 136,589,430UniSTSGRCh37
Build 366136,631,001 - 136,631,123RGDNCBI36
Celera6137,329,742 - 137,329,864RGD
Cytogenetic Map6q22-q23UniSTS
HuRef1630,537,040 - 30,537,162UniSTS
HuRef6134,153,885 - 134,154,007UniSTS
STS-AA037848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375110,283,820 - 110,284,009UniSTSGRCh37
Build 365110,311,719 - 110,311,908RGDNCBI36
Celera5106,229,751 - 106,229,940RGD
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map6q22-q23UniSTS
HuRef5105,462,932 - 105,463,121UniSTS
GeneMap99-GB4 RH Map5462.97UniSTS
NCBI RH Map5772.0UniSTS
D6S2199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,579,748 - 136,579,884UniSTSGRCh37
Build 366136,621,441 - 136,621,577RGDNCBI36
Celera6137,320,182 - 137,320,318RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,144,325 - 134,144,461UniSTS
RH68011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,581,244 - 136,581,391UniSTSGRCh37
Build 366136,622,937 - 136,623,084RGDNCBI36
Celera6137,321,678 - 137,321,825RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6134,145,821 - 134,145,968UniSTS
GeneMap99-GB4 RH Map6545.78UniSTS
SHGC-56727  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q22-q23UniSTS
HuRef1630,537,523 - 30,537,674UniSTS
UniSTS:236317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376136,599,612 - 136,599,811UniSTSGRCh37
Build 366136,641,305 - 136,641,504RGDNCBI36
Celera6137,340,048 - 137,340,247RGD
HuRef1630,539,021 - 30,539,220UniSTS
HuRef6134,164,191 - 134,164,390UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001077440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF249273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX107174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D79986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000353331   ⟹   ENSP00000229446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,256,863 - 136,289,851 (-)Ensembl
Ensembl Acc Id: ENST00000392348   ⟹   ENSP00000376159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,261,110 - 136,279,866 (-)Ensembl
Ensembl Acc Id: ENST00000476194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,271,919 - 136,273,550 (-)Ensembl
Ensembl Acc Id: ENST00000526228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,261,301 - 136,268,409 (-)Ensembl
Ensembl Acc Id: ENST00000527536   ⟹   ENSP00000435441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,258,586 - 136,289,829 (-)Ensembl
Ensembl Acc Id: ENST00000527613   ⟹   ENSP00000436216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,258,593 - 136,289,795 (-)Ensembl
Ensembl Acc Id: ENST00000527759   ⟹   ENSP00000434826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,259,691 - 136,289,795 (-)Ensembl
Ensembl Acc Id: ENST00000528229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,279,483 - 136,289,787 (-)Ensembl
Ensembl Acc Id: ENST00000529522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,260,746 - 136,268,671 (-)Ensembl
Ensembl Acc Id: ENST00000529826   ⟹   ENSP00000431734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,269,476 - 136,289,844 (-)Ensembl
Ensembl Acc Id: ENST00000529917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,261,004 - 136,269,959 (-)Ensembl
Ensembl Acc Id: ENST00000530429   ⟹   ENSP00000436142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,260,902 - 136,289,784 (-)Ensembl
Ensembl Acc Id: ENST00000530767   ⟹   ENSP00000436501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,259,351 - 136,289,781 (-)Ensembl
Ensembl Acc Id: ENST00000531224   ⟹   ENSP00000435210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,256,627 - 136,289,846 (-)Ensembl
Ensembl Acc Id: ENST00000532076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,269,262 - 136,273,144 (-)Ensembl
Ensembl Acc Id: ENST00000532384   ⟹   ENSP00000433505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,260,895 - 136,289,841 (-)Ensembl
Ensembl Acc Id: ENST00000533422   ⟹   ENSP00000437333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,258,294 - 136,268,322 (-)Ensembl
Ensembl Acc Id: ENST00000533621   ⟹   ENSP00000436913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,275,555 - 136,278,103 (-)Ensembl
Ensembl Acc Id: ENST00000534269   ⟹   ENSP00000433822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,259,696 - 136,289,795 (-)Ensembl
Ensembl Acc Id: ENST00000534321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,269,089 - 136,269,740 (-)Ensembl
Ensembl Acc Id: ENST00000534762   ⟹   ENSP00000437018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,260,928 - 136,269,520 (-)Ensembl
Ensembl Acc Id: ENST00000534792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,269,231 - 136,273,166 (-)Ensembl
Ensembl Acc Id: ENST00000628517   ⟹   ENSP00000487249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,269,264 - 136,289,851 (-)Ensembl
Ensembl Acc Id: ENST00000640069   ⟹   ENSP00000491530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6136,256,627 - 136,289,847 (-)Ensembl
RefSeq Acc Id: NM_001077440   ⟹   NP_001070908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
GRCh376136,578,001 - 136,611,783 (-)NCBI
Build 366136,619,694 - 136,652,682 (-)NCBI Archive
HuRef6134,142,584 - 134,175,576 (-)ENTREZGENE
CHM1_16136,840,527 - 136,873,516 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001077441   ⟹   NP_001070909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
GRCh376136,578,001 - 136,611,783 (-)NCBI
Build 366136,619,694 - 136,652,682 (-)NCBI Archive
HuRef6134,142,584 - 134,175,576 (-)ENTREZGENE
CHM1_16136,840,527 - 136,873,516 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301038   ⟹   NP_001287967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
CHM1_16136,840,527 - 136,873,516 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363659   ⟹   NP_001350588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386693   ⟹   NP_001373622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386694   ⟹   NP_001373623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386695   ⟹   NP_001373624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386696   ⟹   NP_001373625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386697   ⟹   NP_001373626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386698   ⟹   NP_001373627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386699   ⟹   NP_001373628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386700   ⟹   NP_001373629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386701   ⟹   NP_001373630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386702   ⟹   NP_001373631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386703   ⟹   NP_001373632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386704   ⟹   NP_001373633
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014739   ⟹   NP_055554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,256,627 - 136,289,846 (-)NCBI
GRCh376136,578,001 - 136,611,783 (-)NCBI
Build 366136,619,694 - 136,652,682 (-)NCBI Archive
HuRef6134,142,584 - 134,175,576 (-)ENTREZGENE
CHM1_16136,840,527 - 136,873,516 (-)NCBI
T2T-CHM13v2.06137,444,735 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170164
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170165
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170166
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170167
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170168
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170169
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170170
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,258,294 - 136,289,846 (-)NCBI
T2T-CHM13v2.06137,446,402 - 137,477,958 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001070908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001070909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001287967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373623 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373624 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373626 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373627 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373628 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373629 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373630 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373631 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373632 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373633 (Get FASTA)   NCBI Sequence Viewer  
  NP_055554 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF64304 (Get FASTA)   NCBI Sequence Viewer  
  AAH16682 (Get FASTA)   NCBI Sequence Viewer  
  AAH47687 (Get FASTA)   NCBI Sequence Viewer  
  AAH47887 (Get FASTA)   NCBI Sequence Viewer  
  AAH56894 (Get FASTA)   NCBI Sequence Viewer  
  AAH63846 (Get FASTA)   NCBI Sequence Viewer  
  AAH78160 (Get FASTA)   NCBI Sequence Viewer  
  AAI32781 (Get FASTA)   NCBI Sequence Viewer  
  AAI44282 (Get FASTA)   NCBI Sequence Viewer  
  BAA11481 (Get FASTA)   NCBI Sequence Viewer  
  BAF98775 (Get FASTA)   NCBI Sequence Viewer  
  BAH13985 (Get FASTA)   NCBI Sequence Viewer  
  EAW47949 (Get FASTA)   NCBI Sequence Viewer  
  EAW47950 (Get FASTA)   NCBI Sequence Viewer  
  EAW47951 (Get FASTA)   NCBI Sequence Viewer  
  EAW47952 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000229446
  ENSP00000229446.5
  ENSP00000376159.2
  ENSP00000431734
  ENSP00000431734.1
  ENSP00000433505.1
  ENSP00000433822.1
  ENSP00000434826
  ENSP00000434826.1
  ENSP00000435210
  ENSP00000435210.1
  ENSP00000435441
  ENSP00000435441.1
  ENSP00000436142.1
  ENSP00000436216.1
  ENSP00000436501
  ENSP00000436501.1
  ENSP00000436913.1
  ENSP00000437018.1
  ENSP00000437333.1
  ENSP00000487249.1
  ENSP00000491530.1
GenBank Protein Q9NYF8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001070908   ⟸   NM_001077440
- Peptide Label: isoform 2
- UniProtKB: Q9NYF8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001070909   ⟸   NM_001077441
- Peptide Label: isoform 3
- UniProtKB: Q9NYF8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055554   ⟸   NM_014739
- Peptide Label: isoform 1
- UniProtKB: Q9NYF8 (UniProtKB/Swiss-Prot),   Q86WU6 (UniProtKB/Swiss-Prot),   Q14673 (UniProtKB/Swiss-Prot),   E1P586 (UniProtKB/Swiss-Prot),   B7ZM58 (UniProtKB/Swiss-Prot),   A2RU75 (UniProtKB/Swiss-Prot),   Q86WY0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287967   ⟸   NM_001301038
- Peptide Label: isoform 4
- UniProtKB: Q9NYF8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350588   ⟸   NM_001363659
- Peptide Label: isoform 5
- UniProtKB: E9PK91 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000436501   ⟸   ENST00000530767
Ensembl Acc Id: ENSP00000436142   ⟸   ENST00000530429
Ensembl Acc Id: ENSP00000435210   ⟸   ENST00000531224
Ensembl Acc Id: ENSP00000433505   ⟸   ENST00000532384
Ensembl Acc Id: ENSP00000436913   ⟸   ENST00000533621
Ensembl Acc Id: ENSP00000437333   ⟸   ENST00000533422
Ensembl Acc Id: ENSP00000433822   ⟸   ENST00000534269
Ensembl Acc Id: ENSP00000437018   ⟸   ENST00000534762
Ensembl Acc Id: ENSP00000487249   ⟸   ENST00000628517
Ensembl Acc Id: ENSP00000491530   ⟸   ENST00000640069
Ensembl Acc Id: ENSP00000376159   ⟸   ENST00000392348
Ensembl Acc Id: ENSP00000229446   ⟸   ENST00000353331
Ensembl Acc Id: ENSP00000435441   ⟸   ENST00000527536
Ensembl Acc Id: ENSP00000434826   ⟸   ENST00000527759
Ensembl Acc Id: ENSP00000436216   ⟸   ENST00000527613
Ensembl Acc Id: ENSP00000431734   ⟸   ENST00000529826
RefSeq Acc Id: NP_001373633   ⟸   NM_001386704
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001373627   ⟸   NM_001386698
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001373625   ⟸   NM_001386696
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001373628   ⟸   NM_001386699
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001373624   ⟸   NM_001386695
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001373626   ⟸   NM_001386697
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001373623   ⟸   NM_001386694
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001373622   ⟸   NM_001386693
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001373632   ⟸   NM_001386703
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001373631   ⟸   NM_001386702
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001373630   ⟸   NM_001386701
- Peptide Label: isoform 1
- UniProtKB: Q9NYF8 (UniProtKB/Swiss-Prot),   Q86WU6 (UniProtKB/Swiss-Prot),   Q14673 (UniProtKB/Swiss-Prot),   E1P586 (UniProtKB/Swiss-Prot),   B7ZM58 (UniProtKB/Swiss-Prot),   A2RU75 (UniProtKB/Swiss-Prot),   Q86WY0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001373629   ⟸   NM_001386700
- Peptide Label: isoform 1
- UniProtKB: Q9NYF8 (UniProtKB/Swiss-Prot),   Q86WU6 (UniProtKB/Swiss-Prot),   Q14673 (UniProtKB/Swiss-Prot),   E1P586 (UniProtKB/Swiss-Prot),   B7ZM58 (UniProtKB/Swiss-Prot),   A2RU75 (UniProtKB/Swiss-Prot),   Q86WY0 (UniProtKB/Swiss-Prot)
Protein Domains
Btz

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYF8-F1-model_v2 AlphaFold Q9NYF8 1-920 view protein structure

Promoters
RGD ID:7209227
Promoter ID:EPDNEW_H10359
Type:initiation region
Name:BCLAF1_1
Description:BCL2 associated transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386136,289,844 - 136,289,904EPDNEW
RGD ID:6803986
Promoter ID:HG_KWN:55147
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000353331,   ENST00000392348,   NM_001077440,   NM_001077441,   NM_014739
Position:
Human AssemblyChrPosition (strand)Source
Build 366136,652,686 - 136,653,487 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16863 AgrOrtholog
COSMIC BCLAF1 COSMIC
Ensembl Genes ENSG00000029363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000353331 ENTREZGENE
  ENST00000353331.8 UniProtKB/Swiss-Prot
  ENST00000392348.6 UniProtKB/Swiss-Prot
  ENST00000527536 ENTREZGENE
  ENST00000527536.5 UniProtKB/TrEMBL
  ENST00000527613 ENTREZGENE
  ENST00000527613.5 UniProtKB/TrEMBL
  ENST00000527759 ENTREZGENE
  ENST00000527759.5 UniProtKB/Swiss-Prot
  ENST00000529826 ENTREZGENE
  ENST00000529826.5 UniProtKB/TrEMBL
  ENST00000530429.5 UniProtKB/TrEMBL
  ENST00000530767 ENTREZGENE
  ENST00000530767.5 UniProtKB/Swiss-Prot
  ENST00000531224 ENTREZGENE
  ENST00000531224.6 UniProtKB/Swiss-Prot
  ENST00000532384.5 UniProtKB/TrEMBL
  ENST00000533422.5 UniProtKB/TrEMBL
  ENST00000533621.1 UniProtKB/TrEMBL
  ENST00000534269.5 UniProtKB/TrEMBL
  ENST00000534762.5 UniProtKB/TrEMBL
  ENST00000628517.2 UniProtKB/TrEMBL
  ENST00000640069.1 UniProtKB/TrEMBL
GTEx ENSG00000029363 GTEx
HGNC ID HGNC:16863 ENTREZGENE
Human Proteome Map BCLAF1 Human Proteome Map
InterPro Btz_dom UniProtKB/TrEMBL
  THRAP3_BCLAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9774 UniProtKB/Swiss-Prot
NCBI Gene 9774 ENTREZGENE
OMIM 612588 OMIM
PANTHER PTHR15268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15268:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Btz UniProtKB/TrEMBL
  THRAP3_BCLAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134868035 PharmGKB
UniProt A0A1W2PQ43_HUMAN UniProtKB/TrEMBL
  A2RU75 ENTREZGENE
  B7ZM58 ENTREZGENE
  BCLF1_HUMAN UniProtKB/Swiss-Prot
  E1P586 ENTREZGENE
  E9PJA7_HUMAN UniProtKB/TrEMBL
  E9PK09_HUMAN UniProtKB/TrEMBL
  E9PK91 ENTREZGENE, UniProtKB/TrEMBL
  E9PKI6_HUMAN UniProtKB/TrEMBL
  E9PQN2_HUMAN UniProtKB/TrEMBL
  H0YF00_HUMAN UniProtKB/TrEMBL
  H0YF14_HUMAN UniProtKB/TrEMBL
  H0YF63_HUMAN UniProtKB/TrEMBL
  Q14673 ENTREZGENE
  Q6DCA8_HUMAN UniProtKB/TrEMBL
  Q86WU6 ENTREZGENE
  Q86WY0 ENTREZGENE
  Q9NYF8 ENTREZGENE
UniProt Secondary A2RU75 UniProtKB/Swiss-Prot
  B7ZM58 UniProtKB/Swiss-Prot
  E1P586 UniProtKB/Swiss-Prot
  Q14673 UniProtKB/Swiss-Prot
  Q86WU6 UniProtKB/Swiss-Prot
  Q86WY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 BCLAF1  BCL2 associated transcription factor 1  BCLAF1  BCL2-associated transcription factor 1  Symbol and/or name change 5135510 APPROVED