BCORL1 (BCL6 corepressor like 1) - Rat Genome Database

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Gene: BCORL1 (BCL6 corepressor like 1) Homo sapiens
Analyze
Symbol: BCORL1
Name: BCL6 corepressor like 1
RGD ID: 1346589
HGNC Page HGNC
Description: Predicted to be involved in chromatin organization. Localizes to nucleoplasm and plasma membrane. Implicated in Shukla-Vernon syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B930011H20Rik; BCL-6 corepressor-like protein 1; BCL6 co-repressor-like 1; BCL6 corepressor-like 1; BCoR-L1; BCoR-like protein 1; chromosome X open reading frame 10; CXorf10; FLJ11362; FLJ11632; SHUVER
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX129,981,107 - 130,058,071 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX129,981,107 - 130,058,083 (+)EnsemblGRCh38hg38GRCh38
GRCh38X129,980,285 - 130,058,081 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,114,955 - 129,192,046 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,944,350 - 129,019,282 (+)NCBINCBI36hg18NCBI36
Build 34X128,842,203 - 128,917,136NCBI
CeleraX129,525,724 - 129,578,619 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,537,901 - 118,589,904 (+)NCBIHuRef
CHM1_1X129,050,337 - 129,103,226 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormality of the pinna  (IAGP)
Aortic root aneurysm  (IAGP)
Aphasia  (IAGP)
Astigmatism  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Blepharophimosis  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Broad-based gait  (IAGP)
Cafe-au-lait spot  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral white matter hypoplasia  (IAGP)
Clinodactyly of hallux  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital nystagmus  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate tall stature  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Drooling  (IAGP)
Duane anomaly  (IAGP)
Exotropia  (IAGP)
Facial hypotonia  (IAGP)
Feeding difficulties  (IAGP)
Frontal cortical atrophy  (IAGP)
Frontal upsweep of hair  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dysplasia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Impaired tandem gait  (IAGP)
Incisor macrodontia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Long fingers  (IAGP)
Long philtrum  (IAGP)
Long toe  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Moderate global developmental delay  (IAGP)
Multiple myeloma  (IAGP)
Narrow face  (IAGP)
Narrow mouth  (IAGP)
Nasal speech  (IAGP)
Nystagmus  (IAGP)
Panic attack  (IAGP)
Papilledema  (IAGP)
Pes cavus  (IAGP)
Precocious puberty  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent forehead  (IAGP)
Proximal placement of hallux  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pulmonary artery dilatation  (IAGP)
Receptive language delay  (IAGP)
Relative macrocephaly  (IAGP)
Retinal atrophy  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short hallux  (IAGP)
Sleep disturbance  (IAGP)
Small scrotum  (IAGP)
Smooth philtrum  (IAGP)
Sparse hair  (IAGP)
Speech apraxia  (IAGP)
Stereotypy  (IAGP)
Tapered finger  (IAGP)
Thin corpus callosum  (IAGP)
Thin vermilion border  (IAGP)
Variable expressivity  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal base  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:17379597   PMID:17697391   PMID:18029348   PMID:19490893   PMID:21989985   PMID:22325352   PMID:23064961   PMID:23523425   PMID:23793880  
PMID:24024966   PMID:24047651   PMID:24457600   PMID:24999758   PMID:25281560   PMID:25596268   PMID:26186194   PMID:26496610   PMID:26648304   PMID:26687479   PMID:26879601   PMID:27505670  
PMID:27568929   PMID:27705803   PMID:28514442   PMID:29507755   PMID:29605720   PMID:29676528   PMID:30415952   PMID:30804502   PMID:30941876   PMID:32594217   PMID:33283733  


Genomics

Comparative Map Data
BCORL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX129,981,107 - 130,058,071 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX129,981,107 - 130,058,083 (+)EnsemblGRCh38hg38GRCh38
GRCh38X129,980,285 - 130,058,081 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,114,955 - 129,192,046 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,944,350 - 129,019,282 (+)NCBINCBI36hg18NCBI36
Build 34X128,842,203 - 128,917,136NCBI
CeleraX129,525,724 - 129,578,619 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,537,901 - 118,589,904 (+)NCBIHuRef
CHM1_1X129,050,337 - 129,103,226 (+)NCBICHM1_1
Bcorl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X47,430,235 - 47,496,945 (+)NCBIGRCm39mm39
GRCm39 EnsemblX47,430,235 - 47,496,926 (+)Ensembl
GRCm38X48,341,358 - 48,408,068 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX48,341,358 - 48,408,049 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X45,694,535 - 45,759,905 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X44,585,985 - 44,651,355 (+)NCBImm8
CeleraX35,844,530 - 35,908,298 (+)NCBICelera
Cytogenetic MapXA5NCBI
Bcorl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X127,516,504 - 127,584,529 (+)NCBI
Rnor_6.0 EnsemblX135,187,468 - 135,233,839 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X135,187,468 - 135,233,859 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X135,258,329 - 135,311,922 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X134,755,840 - 134,802,339 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX126,486,590 - 126,533,223 (+)NCBICelera
Cytogenetic MapXq36NCBI
Bcorl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554734,989,366 - 5,054,925 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554734,990,974 - 5,054,829 (-)NCBIChiLan1.0ChiLan1.0
BCORL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X129,402,314 - 129,479,302 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX129,403,888 - 129,479,297 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X119,108,049 - 119,185,165 (+)NCBIMhudiblu_PPA_v0panPan3
BCORL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X101,153,952 - 101,215,365 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX101,154,823 - 101,214,175 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX87,328,963 - 87,393,319 (+)NCBI
ROS_Cfam_1.0X103,007,034 - 103,068,542 (+)NCBI
UMICH_Zoey_3.1X100,425,537 - 100,489,175 (+)NCBI
UNSW_CanFamBas_1.0X102,271,127 - 102,335,455 (+)NCBI
UU_Cfam_GSD_1.0X102,049,188 - 102,113,572 (+)NCBI
Bcorl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X99,381,148 - 99,449,640 (+)NCBI
SpeTri2.0NW_0049364791,539,676 - 1,605,647 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCORL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX106,547,097 - 106,612,894 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X106,547,754 - 106,613,130 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X122,316,202 - 122,381,574 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BCORL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X105,238,616 - 105,314,326 (+)NCBI
ChlSab1.1 EnsemblX105,240,043 - 105,314,553 (+)Ensembl
Vero_WHO_p1.0NW_02366606542,660,158 - 42,737,626 (+)NCBI
Bcorl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247979,211,625 - 9,283,435 (+)NCBI

Position Markers
RH93023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,191,383 - 129,191,551UniSTSGRCh37
Build 36X129,019,064 - 129,019,232RGDNCBI36
CeleraX129,577,944 - 129,578,112RGD
Cytogenetic MapXq25-q26.1UniSTS
HuRefX118,589,229 - 118,589,397UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS
AL032547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,130,423 - 129,130,550UniSTSGRCh37
Build 36X128,958,104 - 128,958,231RGDNCBI36
CeleraX129,516,982 - 129,517,109RGD
HuRefX118,529,325 - 118,529,452UniSTS
RH103287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,191,377 - 129,191,552UniSTSGRCh37
Build 36X129,019,058 - 129,019,233RGDNCBI36
CeleraX129,577,938 - 129,578,113RGD
Cytogenetic MapXq25-q26.1UniSTS
HuRefX118,589,223 - 118,589,398UniSTS
GeneMap99-GB4 RH MapX305.02UniSTS
AL008917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,165,091 - 129,165,255UniSTSGRCh37
Build 36X128,992,772 - 128,992,936RGDNCBI36
CeleraX129,551,652 - 129,551,816RGD
Cytogenetic MapXq25-q26.1UniSTS
HuRefX118,563,655 - 118,563,819UniSTS
DXS9756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,191,423 - 129,191,552UniSTSGRCh37
Build 36X129,019,104 - 129,019,233RGDNCBI36
CeleraX129,577,984 - 129,578,113RGD
Cytogenetic MapXq25-q26.1UniSTS
HuRefX118,589,269 - 118,589,398UniSTS
AFM338za9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,134,780 - 129,134,958UniSTSGRCh37
Build 36X128,962,461 - 128,962,639RGDNCBI36
CeleraX129,521,340 - 129,521,518RGD
HuRefX118,533,506 - 118,533,684UniSTS
Whitehead-RH MapX282.4UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
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Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D8S2282  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4p16.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8253
Count of miRNA genes:1186
Interacting mature miRNAs:1488
Transcripts:ENST00000218147, ENST00000303743, ENST00000359304, ENST00000441294, ENST00000456822, ENST00000488135, ENST00000540052, ENST00000607874
Prediction methods:Miranda, Pita, Pita,Targetscan, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 359 405 444 37 150 37 759 181 582 70 735 609 5 98 609 3
Low 2079 2575 1276 581 1792 422 3592 2008 3125 347 724 1004 169 1 1106 2174 2 2
Below cutoff 1 10 6 6 9 6 5 8 27 2 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI209024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE244710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE246581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA227697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218147   ⟹   ENSP00000218147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,982,610 - 130,057,663 (+)Ensembl
RefSeq Acc Id: ENST00000441294   ⟹   ENSP00000416520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,014,467 - 130,028,861 (+)Ensembl
RefSeq Acc Id: ENST00000456822   ⟹   ENSP00000399483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,013,973 - 130,057,626 (+)Ensembl
RefSeq Acc Id: ENST00000488135   ⟹   ENSP00000476643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,981,163 - 130,013,178 (+)Ensembl
RefSeq Acc Id: ENST00000540052   ⟹   ENSP00000437775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,005,188 - 130,058,083 (+)Ensembl
RefSeq Acc Id: ENST00000607874   ⟹   ENSP00000484149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX129,981,107 - 130,005,317 (+)Ensembl
RefSeq Acc Id: NM_001184772   ⟹   NP_001171701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,979 - 130,058,071 (+)NCBI
CHM1_1X129,050,337 - 129,103,226 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379450   ⟹   NP_001366379
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,982,635 - 130,058,071 (+)NCBI
RefSeq Acc Id: NM_001379451   ⟹   NP_001366380
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,982,635 - 130,058,071 (+)NCBI
RefSeq Acc Id: NM_021946   ⟹   NP_068765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,982,635 - 130,058,071 (+)NCBI
GRCh37X129,114,277 - 129,192,058 (+)NCBI
Build 36X128,944,350 - 129,019,282 (+)NCBI Archive
CeleraX129,525,724 - 129,578,619 (+)RGD
HuRefX118,537,901 - 118,589,904 (+)RGD
CHM1_1X129,050,337 - 129,103,226 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262453   ⟹   XP_005262510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,285 - 130,058,081 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262455   ⟹   XP_005262512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,984,359 - 130,058,081 (+)NCBI
GRCh37X129,114,277 - 129,192,058 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262456   ⟹   XP_005262513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,998 - 130,058,081 (+)NCBI
GRCh37X129,114,277 - 129,192,058 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724776   ⟹   XP_006724839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,998 - 130,058,081 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724777   ⟹   XP_006724840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,293 - 130,058,081 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724779   ⟹   XP_006724842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,982,632 - 130,058,081 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029721   ⟹   XP_016885210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,998 - 130,058,081 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029722   ⟹   XP_016885211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,994,033 - 130,058,081 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_068765   ⟸   NM_021946
- Peptide Label: isoform 1
- UniProtKB: Q5H9F3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262510   ⟸   XM_005262453
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005262513   ⟸   XM_005262456
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005262512   ⟸   XM_005262455
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724840   ⟸   XM_006724777
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724839   ⟸   XM_006724776
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724842   ⟸   XM_006724779
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001171701   ⟸   NM_001184772
- Peptide Label: isoform 1a
- Sequence:
RefSeq Acc Id: XP_016885210   ⟸   XM_017029721
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885211   ⟸   XM_017029722
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001366379   ⟸   NM_001379450
- Peptide Label: isoform 1a
RefSeq Acc Id: NP_001366380   ⟸   NM_001379451
- Peptide Label: isoform 1a
RefSeq Acc Id: ENSP00000218147   ⟸   ENST00000218147
RefSeq Acc Id: ENSP00000416520   ⟸   ENST00000441294
RefSeq Acc Id: ENSP00000399483   ⟸   ENST00000456822
RefSeq Acc Id: ENSP00000476643   ⟸   ENST00000488135
RefSeq Acc Id: ENSP00000484149   ⟸   ENST00000607874
RefSeq Acc Id: ENSP00000437775   ⟸   ENST00000540052
Protein Domains
ANK_REP_REGION

Promoters
RGD ID:6808528
Promoter ID:HG_KWN:68024
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000058224,   UC010NRC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,942,484 - 128,942,984 (+)MPROMDB
RGD ID:6808529
Promoter ID:HG_KWN:68025
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:ENST00000359304,   NM_001184772,   OTTHUMT00000058223
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,943,366 - 128,944,352 (+)MPROMDB
RGD ID:6808531
Promoter ID:HG_KWN:68026
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000058225,   UC010NRD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,975,771 - 128,977,522 (+)MPROMDB
RGD ID:6808530
Promoter ID:HG_KWN:68027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:UC004EVC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,985,761 - 128,986,261 (+)MPROMDB
RGD ID:13628076
Promoter ID:EPDNEW_H29313
Type:initiation region
Name:BCORL1_2
Description:BCL6 corepressor like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29314  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,316 - 129,980,376EPDNEW
RGD ID:13628078
Promoter ID:EPDNEW_H29314
Type:initiation region
Name:BCORL1_1
Description:BCL6 corepressor like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29313  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,980,979 - 129,981,039EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_021946.4(BCORL1):c.902C>G (p.Ala301Gly) single nucleotide variant not provided [RCV000521846] ChrX:130013674 [GRCh38]
ChrX:129147650 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2459A>G (p.Asn820Ser) single nucleotide variant Shukla-Vernon syndrome [RCV000077788] ChrX:130015231 [GRCh38]
ChrX:129149207 [GRCh37]
ChrX:Xq26.1
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.629C>T (p.Ser210Leu) single nucleotide variant Malignant melanoma [RCV000073070] ChrX:130013401 [GRCh38]
ChrX:129147377 [GRCh37]
ChrX:128975058 [NCBI36]
ChrX:Xq26.1
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.188C>T (p.Thr63Met) single nucleotide variant not provided [RCV000659179] ChrX:130012960 [GRCh38]
ChrX:129146936 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_001379451.1(BCORL1):c.26G>A (p.Ser9Asn) single nucleotide variant Shukla-Vernon syndrome [RCV001290427] ChrX:130005257 [GRCh38]
ChrX:129139233 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 copy number gain See cases [RCV000143055] ChrX:129192846..130323929 [GRCh38]
ChrX:128326823..129457903 [GRCh37]
ChrX:128154504..129285584 [NCBI36]
ChrX:Xq25-26.1
uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.2669G>A (p.Arg890Gln) single nucleotide variant not provided [RCV000369096] ChrX:130015441 [GRCh38]
ChrX:129149417 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.3586C>T (p.Arg1196Ter) single nucleotide variant not provided [RCV000578865] ChrX:130021129 [GRCh38]
ChrX:129155104 [GRCh37]
ChrX:Xq26.1
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.3593A>C (p.Asp1198Ala) single nucleotide variant not provided [RCV000423833] ChrX:130021136 [GRCh38]
ChrX:129155111 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.1487C>T (p.Ser496Phe) single nucleotide variant Shukla-Vernon syndrome [RCV000790633]|not provided [RCV000434577] ChrX:130014259 [GRCh38]
ChrX:129148235 [GRCh37]
ChrX:Xq26.1
pathogenic|uncertain significance
NM_021946.4(BCORL1):c.4129C>T (p.Arg1377Cys) single nucleotide variant not specified [RCV000438672] ChrX:130028685 [GRCh38]
ChrX:129162660 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.2245G>A (p.Glu749Lys) single nucleotide variant not provided [RCV000418544] ChrX:130015017 [GRCh38]
ChrX:129148993 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2863A>C (p.Ser955Arg) single nucleotide variant not provided [RCV000442876] ChrX:130015635 [GRCh38]
ChrX:129149611 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_021946.4(BCORL1):c.1495C>T (p.Leu499Phe) single nucleotide variant not provided [RCV000432762] ChrX:130014267 [GRCh38]
ChrX:129148243 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2447G>A (p.Arg816Gln) single nucleotide variant not provided [RCV000436199] ChrX:130015219 [GRCh38]
ChrX:129149195 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.784C>T (p.Pro262Ser) single nucleotide variant not provided [RCV000440218] ChrX:130013556 [GRCh38]
ChrX:129147532 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2112G>T (p.Lys704Asn) single nucleotide variant not provided [RCV000426658] ChrX:130014884 [GRCh38]
ChrX:129148860 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.4925G>A (p.Arg1642Gln) single nucleotide variant Shukla-Vernon syndrome [RCV001329239]|not provided [RCV000430587] ChrX:130055925 [GRCh38]
ChrX:129189900 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2903C>T (p.Pro968Leu) single nucleotide variant not provided [RCV000444501] ChrX:130015675 [GRCh38]
ChrX:129149651 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.220del (p.Ala74fs) deletion not provided [RCV000482370] ChrX:130012987 [GRCh38]
ChrX:129146963 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-26.1(chrX:128311362-129281516)x3 copy number gain See cases [RCV000510392] ChrX:128311362..129281516 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.985G>C (p.Val329Leu) single nucleotide variant not provided [RCV000497493] ChrX:130013757 [GRCh38]
ChrX:129147733 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2202dup (p.Asn735fs) duplication not provided [RCV000493527] ChrX:130014970..130014971 [GRCh38]
ChrX:129148946..129148947 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.605C>G (p.Pro202Arg) single nucleotide variant not provided [RCV000493546] ChrX:130013377 [GRCh38]
ChrX:129147353 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021946.4(BCORL1):c.2095C>T (p.Pro699Ser) single nucleotide variant not provided [RCV000585290] ChrX:130014867 [GRCh38]
ChrX:129148843 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_021946.4(BCORL1):c.4216G>A (p.Glu1406Lys) single nucleotide variant not provided [RCV000513213] ChrX:130028772 [GRCh38]
ChrX:129162747 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala) single nucleotide variant Autistic disorder of childhood onset [RCV000735323] ChrX:130013304 [GRCh38]
ChrX:129147280 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq26.1(chrX:128723451-129281476)x2 copy number gain not provided [RCV000753774] ChrX:128723451..129281476 [GRCh37]
ChrX:Xq26.1
benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.1659T>C (p.Leu553=) single nucleotide variant not provided [RCV000958356] ChrX:130014431 [GRCh38]
ChrX:129148407 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.1059G>A (p.Pro353=) single nucleotide variant not provided [RCV000906112] ChrX:130013831 [GRCh38]
ChrX:129147807 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.3158A>G (p.Lys1053Arg) single nucleotide variant not provided [RCV000880013] ChrX:130015930 [GRCh38]
ChrX:129149906 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.4011C>T (p.Ser1337=) single nucleotide variant not provided [RCV000880966] ChrX:130025312 [GRCh38]
ChrX:129159287 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.4629G>A (p.Ser1543=) single nucleotide variant not provided [RCV000968811] ChrX:130050727 [GRCh38]
ChrX:129184702 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.2064C>T (p.Val688=) single nucleotide variant not provided [RCV000970523] ChrX:130014836 [GRCh38]
ChrX:129148812 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.2242C>T (p.Gln748Ter) single nucleotide variant Multiple myeloma [RCV000984114] ChrX:130015014 [GRCh38]
ChrX:129148990 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_021946.4(BCORL1):c.2820C>T (p.Ser940=) single nucleotide variant not provided [RCV000981238] ChrX:130015592 [GRCh38]
ChrX:129149568 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_021946.4(BCORL1):c.2248C>T (p.Pro750Ser) single nucleotide variant not provided [RCV000996017] ChrX:130015020 [GRCh38]
ChrX:129148996 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.2345T>A (p.Val782Glu) single nucleotide variant Shukla-Vernon syndrome [RCV000790632] ChrX:130015117 [GRCh38]
ChrX:129149093 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021946.4(BCORL1):c.3521A>G (p.Asn1174Ser) single nucleotide variant not provided [RCV000925377] ChrX:130021064 [GRCh38]
ChrX:129155039 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.360C>T (p.Asp120=) single nucleotide variant not provided [RCV000920842] ChrX:130013132 [GRCh38]
ChrX:129147108 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.783G>A (p.Ala261=) single nucleotide variant not provided [RCV000966498] ChrX:130013555 [GRCh38]
ChrX:129147531 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.3555G>A (p.Pro1185=) single nucleotide variant not provided [RCV000937721] ChrX:130021098 [GRCh38]
ChrX:129155073 [GRCh37]
ChrX:Xq26.1
likely benign
NM_001379451.1(BCORL1):c.2548G>A (p.Gly850Arg) single nucleotide variant not provided [RCV001091718] ChrX:130015320 [GRCh38]
ChrX:129149296 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_021946.4(BCORL1):c.516T>C (p.Asn172=) single nucleotide variant not provided [RCV000833622] ChrX:130013288 [GRCh38]
ChrX:129147264 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_021946.4(BCORL1):c.95C>T (p.Pro32Leu) single nucleotide variant Shukla-Vernon syndrome [RCV000790634] ChrX:130012586 [GRCh38]
ChrX:129146562 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_021946.4(BCORL1):c.882G>A (p.Pro294=) single nucleotide variant not provided [RCV000920481] ChrX:130013654 [GRCh38]
ChrX:129147630 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001379451.1(BCORL1):c.3960AGA[3] (p.Glu1324dup) microsatellite not specified [RCV001192704] ChrX:130025258..130025259 [GRCh38]
ChrX:129159233..129159234 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_001379451.1(BCORL1):c.3787G>A (p.Ala1263Thr) single nucleotide variant not provided [RCV001091719] ChrX:130025088 [GRCh38]
ChrX:129159063 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_021946.4(BCORL1):c.1446G>A (p.Pro482=) single nucleotide variant not provided [RCV000971838] ChrX:130014218 [GRCh38]
ChrX:129148194 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.837C>T (p.Ala279=) single nucleotide variant not provided [RCV000907956] ChrX:130013609 [GRCh38]
ChrX:129147585 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.2424G>A (p.Thr808=) single nucleotide variant not provided [RCV000923198] ChrX:130015196 [GRCh38]
ChrX:129149172 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.1902A>G (p.Pro634=) single nucleotide variant not provided [RCV000917048] ChrX:130014674 [GRCh38]
ChrX:129148650 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.3363C>T (p.Cys1121=) single nucleotide variant not provided [RCV000908691] ChrX:130016135 [GRCh38]
ChrX:129150111 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV000910871] ChrX:130013052 [GRCh38]
ChrX:129147028 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_021946.4(BCORL1):c.1699C>T (p.Leu567=) single nucleotide variant not provided [RCV000889876] ChrX:130014471 [GRCh38]
ChrX:129148447 [GRCh37]
ChrX:Xq26.1
benign
NM_021946.4(BCORL1):c.2410T>C (p.Leu804=) single nucleotide variant not provided [RCV000913442] ChrX:130015182 [GRCh38]
ChrX:129149158 [GRCh37]
ChrX:Xq26.1
likely benign
NM_021946.4(BCORL1):c.2073C>T (p.Pro691=) single nucleotide variant not provided [RCV000890468] ChrX:130014845 [GRCh38]
ChrX:129148821 [GRCh37]
ChrX:Xq26.1
benign
NM_001379451.1(BCORL1):c.4054G>C (p.Glu1352Gln) single nucleotide variant Shukla-Vernon syndrome [RCV001174537] ChrX:130025355 [GRCh38]
ChrX:129159330 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001379451.1(BCORL1):c.3604G>A (p.Glu1202Lys) single nucleotide variant not specified [RCV001175028] ChrX:130021147 [GRCh38]
ChrX:129155122 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_021946.5(BCORL1):c.164G>A (p.Ser55Asn) single nucleotide variant Seizures [RCV001256132] ChrX:130012655 [GRCh38]
ChrX:129146631 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq26.1(chrX:128919362-129255906)x3 copy number gain not provided [RCV001259505] ChrX:128919362..129255906 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_001379451.1(BCORL1):c.1055C>G (p.Pro352Arg) single nucleotide variant Shukla-Vernon syndrome [RCV001329237] ChrX:130013827 [GRCh38]
ChrX:129147803 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_001379451.1(BCORL1):c.1258G>A (p.Val420Met) single nucleotide variant Shukla-Vernon syndrome [RCV001329238] ChrX:130014030 [GRCh38]
ChrX:129148006 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys) single nucleotide variant Intellectual disability [RCV001281108] ChrX:130025094 [GRCh38]
ChrX:129159069 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_001379451.1(BCORL1):c.1511A>G (p.Tyr504Cys) single nucleotide variant not provided [RCV001300812] ChrX:130014283 [GRCh38]
ChrX:129148259 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_001379451.1(BCORL1):c.3287T>C (p.Val1096Ala) single nucleotide variant not provided [RCV001280762] ChrX:130016059 [GRCh38]
ChrX:129150035 [GRCh37]
ChrX:Xq26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25657 AgrOrtholog
COSMIC BCORL1 COSMIC
Ensembl Genes ENSG00000085185 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000399483 UniProtKB/TrEMBL
  ENSP00000416520 UniProtKB/TrEMBL
  ENSP00000437775 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000476643 UniProtKB/TrEMBL
  ENSP00000484149 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441294 UniProtKB/TrEMBL
  ENST00000456822 UniProtKB/TrEMBL
  ENST00000488135 UniProtKB/TrEMBL
  ENST00000540052 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000607874 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.260.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000085185 GTEx
HGNC ID HGNC:25657 ENTREZGENE
Human Proteome Map BCORL1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCOR UniProtKB/Swiss-Prot
  PUFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUFD_som_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:63035 UniProtKB/Swiss-Prot
NCBI Gene 63035 ENTREZGENE
OMIM 300688 OMIM
  301029 OMIM
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCOR UniProtKB/Swiss-Prot
  PUFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134863970 PharmGKB
PRINTS ANKYRIN UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6Q3_HUMAN UniProtKB/TrEMBL
  A0A087X1F0_HUMAN UniProtKB/TrEMBL
  BCORL_HUMAN UniProtKB/Swiss-Prot
  H7C4B2_HUMAN UniProtKB/TrEMBL
  L8EB38_HUMAN UniProtKB/TrEMBL
  Q5H9F3 ENTREZGENE
  Q86YA6_HUMAN UniProtKB/TrEMBL
  V9GYD4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B5MDQ8 UniProtKB/Swiss-Prot
  Q5H9F2 UniProtKB/Swiss-Prot
  Q5H9F4 UniProtKB/Swiss-Prot
  Q6ZVE0 UniProtKB/Swiss-Prot
  Q8TEN3 UniProtKB/Swiss-Prot
  Q9Y528 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-28 BCORL1  BCL6 corepressor like 1    BCL6 corepressor-like 1  Symbol and/or name change 5135510 APPROVED
2016-03-15 BCORL1  BCL6 corepressor-like 1  CXorf10  chromosome X open reading frame 10  Data Merged 737654 PROVISIONAL
2011-07-27 BCORL1  BCL6 corepressor-like 1  BCORL1  BCL6 co-repressor-like 1  Symbol and/or name change 5135510 APPROVED