CBY1 (chibby 1, beta catenin antagonist) - Rat Genome Database

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Gene: CBY1 (chibby 1, beta catenin antagonist) Homo sapiens
Analyze
Symbol: CBY1
Name: chibby 1, beta catenin antagonist
RGD ID: 1343969
HGNC Page HGNC:1307
Description: Enables beta-catenin binding activity and protein homodimerization activity. Involved in several processes, including negative regulation of DNA-templated transcription; negative regulation of Wnt signaling pathway; and protein homotetramerization. Located in centriole; nucleus; and trans-Golgi network.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arb1; ARPP-binding protein; C22orf2; CBY; chibby CTNNB1-mediated transcription inhibitor; chibby family member 1, beta catenin antagonist; chibby homolog 1; chibby homolog 1 (Drosophila); Chibby1; coiled-coil protein PIGEA-14; cytosolic leucine-rich protein; HS508I15A; PGEA1; PIGEA-14; PIGEA14; PKD2 interactor, golgi and endoplasmic reticulum associated 1; PKD2 interactor, Golgi and endoplasmic reticulum-associated 1; polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CBY1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,656,638 - 38,673,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,656,636 - 38,673,854 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,052,643 - 39,069,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,382,604 - 37,399,801 (+)NCBINCBI36Build 36hg18NCBI36
Build 342237,377,157 - 37,394,353NCBI
Celera2222,859,330 - 22,876,528 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2222,018,745 - 22,036,064 (+)NCBIHuRef
CHM1_12239,011,535 - 39,028,742 (+)NCBICHM1_1
T2T-CHM13v2.02239,126,822 - 39,144,043 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591208   PMID:11230166   PMID:11337467   PMID:12477932   PMID:12529303   PMID:12712206   PMID:15194699   PMID:15203218   PMID:15245581   PMID:15461802   PMID:15489334   PMID:16424001  
PMID:16570344   PMID:16713569   PMID:17403895   PMID:17905836   PMID:18573912   PMID:18663750   PMID:18818748   PMID:19019335   PMID:19435523   PMID:19527514   PMID:19940019   PMID:20096688  
PMID:20140262   PMID:21182262   PMID:21873635   PMID:22094256   PMID:22911743   PMID:23645032   PMID:23707389   PMID:23838289   PMID:24339928   PMID:25175341   PMID:25389112   PMID:25416956  
PMID:26147002   PMID:27082063   PMID:27173435   PMID:27528616   PMID:27609421   PMID:28065597   PMID:28079882   PMID:28107095   PMID:28514442   PMID:29117863   PMID:29152155   PMID:29764469  
PMID:30063079   PMID:32296183   PMID:32707033   PMID:32814053   PMID:33131181   PMID:33934099   PMID:33961781   PMID:35271311   PMID:36724073   PMID:36976175   PMID:37433992  


Genomics

Comparative Map Data
CBY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,656,638 - 38,673,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,656,636 - 38,673,854 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,052,643 - 39,069,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,382,604 - 37,399,801 (+)NCBINCBI36Build 36hg18NCBI36
Build 342237,377,157 - 37,394,353NCBI
Celera2222,859,330 - 22,876,528 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2222,018,745 - 22,036,064 (+)NCBIHuRef
CHM1_12239,011,535 - 39,028,742 (+)NCBICHM1_1
T2T-CHM13v2.02239,126,822 - 39,144,043 (+)NCBIT2T-CHM13v2.0
Cby1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391579,543,437 - 79,551,861 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1579,543,400 - 79,551,861 (+)EnsemblGRCm39 Ensembl
GRCm381579,659,103 - 79,667,660 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,659,199 - 79,667,660 (+)EnsemblGRCm38mm10GRCm38
MGSCv371579,489,657 - 79,498,090 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361579,486,482 - 79,494,915 (+)NCBIMGSCv36mm8
Celera1581,784,641 - 81,793,047 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.84NCBI
Cby1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87113,097,220 - 113,103,831 (+)NCBIGRCr8
mRatBN7.27111,216,835 - 111,223,305 (+)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx7112,964,645 - 112,970,405 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07115,188,187 - 115,193,947 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07115,157,561 - 115,163,321 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07120,891,930 - 120,898,318 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7120,891,940 - 120,897,687 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07120,882,298 - 120,888,691 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,903,217 - 117,908,964 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17117,937,446 - 117,943,194 (+)NCBI
Celera7107,547,392 - 107,553,139 (+)NCBICelera
Cytogenetic Map7q34NCBI
Cby1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541324,781,102 - 24,794,537 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541324,781,102 - 24,794,537 (+)NCBIChiLan1.0ChiLan1.0
CBY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22348,512,234 - 48,529,479 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12251,203,666 - 51,220,885 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02219,571,658 - 19,588,872 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12237,389,924 - 37,406,879 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2237,389,948 - 37,406,879 (+)Ensemblpanpan1.1panPan2
CBY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,125,064 - 26,134,693 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,125,189 - 26,128,285 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,080,594 - 26,090,228 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01026,916,186 - 26,925,826 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1026,911,334 - 26,926,094 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11026,637,845 - 26,647,481 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01026,948,966 - 26,958,605 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01027,125,863 - 27,135,500 (-)NCBIUU_Cfam_GSD_1.0
Cby1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049459,667,037 - 9,672,355 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364922,677,502 - 2,681,511 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364922,677,502 - 2,681,845 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CBY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.159,346,087 - 9,358,155 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,591,181 - 6,601,767 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CBY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11921,318,124 - 21,335,973 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1921,318,164 - 21,338,920 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045104,421,958 - 104,442,225 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cby1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247529,469,766 - 9,485,175 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247529,467,636 - 9,485,085 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CBY1
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_015373.4(CBY1):c.346C>G (p.Leu116Val) single nucleotide variant Malignant tumor of prostate [RCV000149229] Chr22:38673201 [GRCh38]
Chr22:39069206 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:39052674-39078845)x3 copy number gain See cases [RCV000446922] Chr22:39052674..39078845 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1(chr22:38871571-39704938)x1 copy number loss See cases [RCV000446194] Chr22:38871571..39704938 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1		 likely pathogenic
GRCh37/hg19 22q13.1(chr22:38838246-39260032)x1 copy number loss See cases [RCV000790565] Chr22:38838246..39260032 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_37154355)_(39148633_?)del deletion Emery-Dreifuss muscular dystrophy [RCV003122557]|Infantile neuroaxonal dystrophy [RCV003122556]|Myoclonic dystonia 26 [RCV003107333] Chr22:37154355..39148633 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic|uncertain significance
NM_015373.4(CBY1):c.64_65dup (p.Asn23fs) microsatellite Familial aplasia of the vermis [RCV001263195] Chr22:38668111..38668112 [GRCh38]
Chr22:39064116..39064117 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_015373.4(CBY1):c.189_190del (p.Gly64_Val65insTer) deletion Familial aplasia of the vermis [RCV001263194] Chr22:38671074..38671075 [GRCh38]
Chr22:39067079..39067080 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1 copy number loss See cases [RCV001007404] Chr22:38431917..39392250 [GRCh37]
Chr22:22q13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NC_000022.10:g.(?_38097373)_(39306081_?)del deletion not provided [RCV003122369] Chr22:38097373..39306081 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_015373.4(CBY1):c.146G>A (p.Gly49Glu) single nucleotide variant Inborn genetic diseases [RCV002682949] Chr22:38670951 [GRCh38]
Chr22:39066956 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_015373.4(CBY1):c.-33G>A single nucleotide variant Inborn genetic diseases [RCV002731727] Chr22:38668022 [GRCh38]
Chr22:39064027 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1(chr22:39040762-39271911)x1 copy number loss not provided [RCV003483393] Chr22:39040762..39271911 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 copy number gain not specified [RCV003986179] Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31		 pathogenic
NM_015373.4(CBY1):c.187A>G (p.Thr63Ala) single nucleotide variant Inborn genetic diseases [RCV004602717] Chr22:38671072 [GRCh38]
Chr22:39067077 [GRCh37]
Chr22:22q13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2384
Count of miRNA genes:807
Interacting mature miRNAs:962
Transcripts:ENST00000216029, ENST00000396811, ENST00000411557, ENST00000416285, ENST00000467118, ENST00000475924, ENST00000485501, ENST00000489847, ENST00000492537, ENST00000492576
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406998923GWAS647899_Hmean corpuscular volume QTL GWAS647899 (human)2e-26mean corpuscular volumemean corpuscular volume (CMO:0000038)223866446838664469Human

Markers in Region
RH41824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,069,620 - 39,069,831UniSTSGRCh37
Build 362237,399,566 - 37,399,777RGDNCBI36
Celera2222,876,293 - 22,876,504RGD
Cytogenetic Map22q12UniSTS
HuRef2222,035,829 - 22,036,040UniSTS
GeneMap99-GB4 RH Map22131.13UniSTS
PGEA1_9407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,069,188 - 39,069,885UniSTSGRCh37
Build 362237,399,134 - 37,399,831RGDNCBI36
Celera2222,875,861 - 22,876,558RGD
HuRef2222,035,397 - 22,036,094UniSTS


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 1949 465 2270 7304 6470 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001002880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB015347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB111855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU099418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK005534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD626926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD702742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000216029   ⟹   ENSP00000216029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,638 - 38,673,850 (+)Ensembl
Ensembl Acc Id: ENST00000396811   ⟹   ENSP00000380026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,651 - 38,673,846 (+)Ensembl
Ensembl Acc Id: ENST00000411557   ⟹   ENSP00000413934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,640 - 38,673,854 (+)Ensembl
Ensembl Acc Id: ENST00000416285   ⟹   ENSP00000412260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,661 - 38,673,850 (+)Ensembl
Ensembl Acc Id: ENST00000467118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,667,896 - 38,670,945 (+)Ensembl
Ensembl Acc Id: ENST00000475924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,636 - 38,668,467 (+)Ensembl
Ensembl Acc Id: ENST00000485501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,636 - 38,671,235 (+)Ensembl
Ensembl Acc Id: ENST00000489847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,688 - 38,673,413 (+)Ensembl
Ensembl Acc Id: ENST00000492537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,671 - 38,671,309 (+)Ensembl
Ensembl Acc Id: ENST00000492576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,656,676 - 38,671,136 (+)Ensembl
Ensembl Acc Id: ENST00000619293   ⟹   ENSP00000478962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,665,595 - 38,673,844 (+)Ensembl
RefSeq Acc Id: NM_001002880   ⟹   NP_001002880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,656,638 - 38,673,850 (+)NCBI
GRCh372239,052,658 - 39,069,859 (+)NCBI
Build 362237,382,604 - 37,399,801 (+)NCBI Archive
HuRef2222,018,745 - 22,036,064 (+)ENTREZGENE
CHM1_12239,011,535 - 39,028,742 (+)NCBI
T2T-CHM13v2.02239,126,822 - 39,144,043 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015373   ⟹   NP_056188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,656,638 - 38,673,850 (+)NCBI
GRCh372239,052,658 - 39,069,859 (+)NCBI
Build 362237,382,604 - 37,399,801 (+)NCBI Archive
HuRef2222,018,745 - 22,036,064 (+)ENTREZGENE
CHM1_12239,011,535 - 39,028,742 (+)NCBI
T2T-CHM13v2.02239,126,822 - 39,144,043 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001002880   ⟸   NM_001002880
- UniProtKB: Q9Y3M2 (UniProtKB/Swiss-Prot),   Q66GT6 (UniProtKB/Swiss-Prot),   B2R4S2 (UniProtKB/Swiss-Prot),   Q9UIK9 (UniProtKB/Swiss-Prot),   B0QY54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056188   ⟸   NM_015373
- UniProtKB: Q9Y3M2 (UniProtKB/Swiss-Prot),   Q66GT6 (UniProtKB/Swiss-Prot),   B2R4S2 (UniProtKB/Swiss-Prot),   Q9UIK9 (UniProtKB/Swiss-Prot),   B0QY54 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000413934   ⟸   ENST00000411557
Ensembl Acc Id: ENSP00000216029   ⟸   ENST00000216029
Ensembl Acc Id: ENSP00000412260   ⟸   ENST00000416285
Ensembl Acc Id: ENSP00000478962   ⟸   ENST00000619293
Ensembl Acc Id: ENSP00000380026   ⟸   ENST00000396811

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3M2-F1-model_v2 AlphaFold Q9Y3M2 1-126 view protein structure

Promoters
RGD ID:6799940
Promoter ID:HG_KWN:42827
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:ENST00000355830,   ENST00000406767,   NM_001013647,   OTTHUMT00000320832,   OTTHUMT00000320833,   OTTHUMT00000320834,   OTTHUMT00000320836,   OTTHUMT00000320837,   OTTHUMT00000320838,   OTTHUMT00000320840,   OTTHUMT00000320841,   OTTHUMT00000321240,   OTTHUMT00000322013,   OTTHUMT00000322014,   OTTHUMT00000322015
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,382,301 - 37,382,801 (-)MPROMDB
RGD ID:13604070
Promoter ID:EPDNEW_H28219
Type:initiation region
Name:CBY1_2
Description:chibby family member 1, beta catenin antagonist
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28220  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,656,371 - 38,656,431EPDNEW
RGD ID:13604072
Promoter ID:EPDNEW_H28220
Type:initiation region
Name:CBY1_1
Description:chibby family member 1, beta catenin antagonist
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28219  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,656,638 - 38,656,698EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1307 AgrOrtholog
COSMIC CBY1 COSMIC
Ensembl Genes ENSG00000100211 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216029 ENTREZGENE
  ENST00000216029.8 UniProtKB/Swiss-Prot
  ENST00000396811 ENTREZGENE
  ENST00000396811.6 UniProtKB/Swiss-Prot
  ENST00000411557.5 UniProtKB/TrEMBL
  ENST00000411557.6 UniProtKB/Swiss-Prot
  ENST00000416285.5 UniProtKB/TrEMBL
  ENST00000416285.6 UniProtKB/Swiss-Prot
GTEx ENSG00000100211 GTEx
HGNC ID HGNC:1307 ENTREZGENE
Human Proteome Map CBY1 Human Proteome Map
InterPro Chibby_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25776 UniProtKB/Swiss-Prot
NCBI Gene 25776 ENTREZGENE
OMIM 607757 OMIM
PANTHER LEUCINE-RICH PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN CHIBBY HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Chibby UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25886 PharmGKB
UniProt B0QY53_HUMAN UniProtKB/TrEMBL
  B0QY54 ENTREZGENE, UniProtKB/TrEMBL
  B2R4S2 ENTREZGENE
  CBY1_HUMAN UniProtKB/Swiss-Prot
  Q66GT6 ENTREZGENE
  Q9UIK9 ENTREZGENE
  Q9Y3M2 ENTREZGENE
UniProt Secondary B2R4S2 UniProtKB/Swiss-Prot
  Q66GT6 UniProtKB/Swiss-Prot
  Q9UIK9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-07-17 CBY1  chibby 1, beta catenin antagonist  CBY1  chibby family member 1, beta catenin antagonist  Symbol and/or name change 19259463 PROVISIONAL
2016-06-14 CBY1  chibby family member 1, beta catenin antagonist  CBY1  chibby homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED