CIBAR1 (CBY1 interacting BAR domain containing 1) - Rat Genome Database

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Gene: CIBAR1 (CBY1 interacting BAR domain containing 1) Homo sapiens
Analyze
Symbol: CIBAR1
Name: CBY1 interacting BAR domain containing 1
RGD ID: 1604747
HGNC Page HGNC
Description: Exhibits phospholipid binding activity. Involved in cilium assembly; inner mitochondrial membrane organization; and limb morphogenesis. Localizes to several cellular components, including centriole; ciliary base; and mitochondrial inner membrane; INTERACTS WITH arsane; arsenic atom; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BARMR1; FAM92A; FAM92A1; family with sequence similarity 92 member A; family with sequence similarity 92 member A1; family with sequence similarity 92, member A1; FLJ38979; hypothetical protein LOC137392; PAPA9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CIBAR1P1   CIBAR1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,698,561 - 93,731,527 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,700,550 - 93,731,527 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,712,778 - 94,743,755 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,781,949 - 94,809,850 (+)NCBINCBI36hg18NCBI36
Celera890,898,882 - 90,926,735 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,920,298 - 89,948,209 (+)NCBIHuRef
CHM1_1894,753,022 - 94,781,768 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:17646714   PMID:19059705   PMID:19060904   PMID:22832960   PMID:25416956   PMID:27528616   PMID:27609421   PMID:27798880   PMID:28514442  
PMID:28675297   PMID:29459677   PMID:30395363   PMID:30404948   PMID:31753913   PMID:32296183   PMID:32532973   PMID:32891772  


Genomics

Comparative Map Data
CIBAR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,698,561 - 93,731,527 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,700,550 - 93,731,527 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,712,778 - 94,743,755 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,781,949 - 94,809,850 (+)NCBINCBI36hg18NCBI36
Celera890,898,882 - 90,926,735 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,920,298 - 89,948,209 (+)NCBIHuRef
CHM1_1894,753,022 - 94,781,768 (+)NCBICHM1_1
Cibar1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,153,142 - 12,172,047 (-)NCBIGRCm39mm39
GRCm39 Ensembl412,153,409 - 12,172,015 (-)Ensembl
GRCm38412,153,142 - 12,172,023 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,153,409 - 12,172,015 (-)EnsemblGRCm38mm10GRCm38
MGSCv37412,080,869 - 12,099,162 (-)NCBIGRCm37mm9NCBIm37
MGSCv36412,080,871 - 12,099,144 (-)NCBImm8
Celera411,963,141 - 11,981,484 (-)NCBICelera
Cytogenetic Map4A1NCBI
Cibar1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,613,993 - 25,632,440 (-)NCBI
Rnor_6.0 Ensembl525,732,644 - 25,750,826 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0525,732,457 - 25,750,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0530,436,344 - 30,454,797 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,402,199 - 26,420,568 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1526,402,385 - 26,420,568 (-)NCBI
Celera524,943,561 - 24,962,057 (-)NCBICelera
Cytogenetic Map5q13NCBI
Cibar1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,059,844 - 10,079,192 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,060,500 - 10,080,119 (+)NCBIChiLan1.0ChiLan1.0
CIBAR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,270,482 - 92,298,846 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,270,538 - 92,298,846 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0890,324,158 - 90,353,161 (+)NCBIMhudiblu_PPA_v0panPan3
CIBAR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12938,604,389 - 38,630,482 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2938,603,965 - 38,630,171 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2938,765,543 - 38,793,446 (+)NCBI
ROS_Cfam_1.02938,807,621 - 38,835,652 (+)NCBI
UMICH_Zoey_3.12938,821,457 - 38,849,431 (+)NCBI
UNSW_CanFamBas_1.02938,816,102 - 38,844,102 (+)NCBI
UU_Cfam_GSD_1.02939,257,385 - 39,285,597 (+)NCBI
Cibar1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,923,864 - 40,944,622 (-)NCBI
SpeTri2.0NW_0049365446,848,026 - 6,868,522 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIBAR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,957,712 - 42,985,459 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,957,848 - 42,985,482 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2446,381,548 - 46,407,873 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CIBAR1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1888,670,290 - 88,700,834 (+)NCBI
ChlSab1.1 Ensembl888,670,298 - 88,699,883 (+)Ensembl
Cibar1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,180,699 - 1,201,766 (+)NCBI

Position Markers
RH78498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,740,928 - 94,741,106UniSTSGRCh37
Build 36894,810,104 - 94,810,282RGDNCBI36
Celera890,926,989 - 90,927,167RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,948,463 - 89,948,641UniSTS
GeneMap99-GB4 RH Map8434.04UniSTS
NCBI RH Map8932.2UniSTS
RH102558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,712,070 - 94,712,151UniSTSGRCh37
Build 36894,781,246 - 94,781,327RGDNCBI36
Celera890,898,179 - 90,898,260RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,919,595 - 89,919,676UniSTS
GeneMap99-GB4 RH Map8432.88UniSTS
RH103188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,738,496 - 94,738,649UniSTSGRCh37
Build 36894,807,672 - 94,807,825RGDNCBI36
Celera890,924,557 - 90,924,710RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,946,031 - 89,946,184UniSTS
GeneMap99-GB4 RH Map8435.44UniSTS
RH68048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,738,725 - 94,738,834UniSTSGRCh37
Build 36894,807,901 - 94,808,010RGDNCBI36
Celera890,924,786 - 90,924,895RGD
Cytogenetic Map8q22.1UniSTS
HuRef889,946,260 - 89,946,369UniSTS
GeneMap99-GB4 RH Map8435.22UniSTS
NCBI RH Map8964.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2831
Count of miRNA genes:992
Interacting mature miRNAs:1173
Transcripts:ENST00000359421, ENST00000423990, ENST00000452913, ENST00000517718, ENST00000518116, ENST00000518322, ENST00000518829, ENST00000519135, ENST00000519679, ENST00000520363, ENST00000520937, ENST00000520955, ENST00000521641, ENST00000522324, ENST00000522803, ENST00000523453, ENST00000523475, ENST00000523577
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 806 638 1046 21 201 22 1255 363 2104 125 1113 935 11 1 410 772 1
Low 1619 2051 678 603 1415 442 3102 1831 1630 294 346 675 164 794 2016 5 2
Below cutoff 8 299 2 322 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001283034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX377341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA378289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359421   ⟹   ENSP00000352391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,562 - 93,728,446 (+)Ensembl
RefSeq Acc Id: ENST00000423990   ⟹   ENSP00000401774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,582 - 93,728,389 (+)Ensembl
RefSeq Acc Id: ENST00000452913   ⟹   ENSP00000391671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,507 - 93,728,456 (+)Ensembl
RefSeq Acc Id: ENST00000517718   ⟹   ENSP00000428874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,705,951 - 93,728,446 (+)Ensembl
RefSeq Acc Id: ENST00000518116   ⟹   ENSP00000428065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,614 - 93,729,250 (+)Ensembl
RefSeq Acc Id: ENST00000518322   ⟹   ENSP00000429367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,550 - 93,731,527 (+)Ensembl
RefSeq Acc Id: ENST00000518829   ⟹   ENSP00000428446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,252 - 93,709,873 (+)Ensembl
RefSeq Acc Id: ENST00000519135   ⟹   ENSP00000428633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,701,534 - 93,705,010 (+)Ensembl
RefSeq Acc Id: ENST00000519679   ⟹   ENSP00000429955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,709,763 - 93,726,704 (+)Ensembl
RefSeq Acc Id: ENST00000520363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,725,848 - 93,728,337 (+)Ensembl
RefSeq Acc Id: ENST00000520937   ⟹   ENSP00000429722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,594 - 93,705,000 (+)Ensembl
RefSeq Acc Id: ENST00000520955   ⟹   ENSP00000427991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,669 - 93,704,984 (+)Ensembl
RefSeq Acc Id: ENST00000521641   ⟹   ENSP00000428751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,706,065 - 93,728,517 (+)Ensembl
RefSeq Acc Id: ENST00000522324   ⟹   ENSP00000430069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,550 - 93,705,552 (+)Ensembl
RefSeq Acc Id: ENST00000522803   ⟹   ENSP00000428739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,571 - 93,709,813 (+)Ensembl
RefSeq Acc Id: ENST00000523453   ⟹   ENSP00000430812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,667 - 93,709,864 (+)Ensembl
RefSeq Acc Id: ENST00000523475   ⟹   ENSP00000430217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,698,561 - 93,709,779 (+)Ensembl
RefSeq Acc Id: ENST00000523577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,553 - 93,729,250 (+)Ensembl
RefSeq Acc Id: ENST00000620645   ⟹   ENSP00000478089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,700,593 - 93,728,389 (+)Ensembl
RefSeq Acc Id: NM_001283034   ⟹   NP_001269963
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
HuRef889,920,260 - 89,949,013 (+)NCBI
CHM1_1894,753,022 - 94,781,768 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145269   ⟹   NP_660312
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
GRCh37894,712,480 - 94,741,481 (+)NCBI
Build 36894,781,949 - 94,809,850 (+)NCBI Archive
Celera890,898,882 - 90,926,735 (+)RGD
HuRef889,920,260 - 89,949,013 (+)NCBI
CHM1_1894,753,022 - 94,781,768 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104267
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
HuRef889,920,260 - 89,949,013 (+)NCBI
CHM1_1894,753,022 - 94,781,768 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104268
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
HuRef889,920,260 - 89,949,013 (+)NCBI
CHM1_1894,753,022 - 94,781,768 (+)NCBI
Sequence:
RefSeq Acc Id: NR_156451
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
RefSeq Acc Id: NR_156452
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
RefSeq Acc Id: NR_156453
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,731,527 (+)NCBI
RefSeq Acc Id: XR_001745468
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,707,188 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745470
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,700,550 - 93,729,250 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_660312   ⟸   NM_145269
- Peptide Label: isoform 1
- UniProtKB: A1XBS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269963   ⟸   NM_001283034
- Peptide Label: isoform 2
- UniProtKB: A1XBS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000401774   ⟸   ENST00000423990
RefSeq Acc Id: ENSP00000352391   ⟸   ENST00000359421
RefSeq Acc Id: ENSP00000478089   ⟸   ENST00000620645
RefSeq Acc Id: ENSP00000428874   ⟸   ENST00000517718
RefSeq Acc Id: ENSP00000428446   ⟸   ENST00000518829
RefSeq Acc Id: ENSP00000428065   ⟸   ENST00000518116
RefSeq Acc Id: ENSP00000429367   ⟸   ENST00000518322
RefSeq Acc Id: ENSP00000428633   ⟸   ENST00000519135
RefSeq Acc Id: ENSP00000429955   ⟸   ENST00000519679
RefSeq Acc Id: ENSP00000391671   ⟸   ENST00000452913
RefSeq Acc Id: ENSP00000427991   ⟸   ENST00000520955
RefSeq Acc Id: ENSP00000429722   ⟸   ENST00000520937
RefSeq Acc Id: ENSP00000428751   ⟸   ENST00000521641
RefSeq Acc Id: ENSP00000430069   ⟸   ENST00000522324
RefSeq Acc Id: ENSP00000428739   ⟸   ENST00000522803
RefSeq Acc Id: ENSP00000430812   ⟸   ENST00000523453
RefSeq Acc Id: ENSP00000430217   ⟸   ENST00000523475

Promoters
RGD ID:6806755
Promoter ID:HG_KWN:61704
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000341186,   ENST00000359421,   NM_145269,   UC003YFU.1,   UC003YFV.2,   UC010MAQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,781,744 - 94,782,244 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter) single nucleotide variant Polydactyly, postaxial, type A9 [RCV000723368]|Postaxial polydactyly type A [RCV001034603] Chr8:93709810 [GRCh38]
Chr8:94722038 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30452 AgrOrtholog
COSMIC CIBAR1 COSMIC
Ensembl Genes ENSG00000188343 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352391 UniProtKB/TrEMBL
  ENSP00000391671 UniProtKB/Swiss-Prot
  ENSP00000401774 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427991 UniProtKB/TrEMBL
  ENSP00000428065 UniProtKB/Swiss-Prot
  ENSP00000428446 UniProtKB/TrEMBL
  ENSP00000428633 UniProtKB/TrEMBL
  ENSP00000428739 UniProtKB/TrEMBL
  ENSP00000428751 UniProtKB/TrEMBL
  ENSP00000428874 UniProtKB/TrEMBL
  ENSP00000429367 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429722 UniProtKB/TrEMBL
  ENSP00000429955 UniProtKB/TrEMBL
  ENSP00000430069 UniProtKB/TrEMBL
  ENSP00000430217 UniProtKB/TrEMBL
  ENSP00000430812 UniProtKB/TrEMBL
  ENSP00000478089 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359421 UniProtKB/TrEMBL
  ENST00000423990 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452913 UniProtKB/Swiss-Prot
  ENST00000517718 UniProtKB/TrEMBL
  ENST00000518116 UniProtKB/Swiss-Prot
  ENST00000518322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518829 UniProtKB/TrEMBL
  ENST00000519135 UniProtKB/TrEMBL
  ENST00000519679 UniProtKB/TrEMBL
  ENST00000520937 UniProtKB/TrEMBL
  ENST00000520955 UniProtKB/TrEMBL
  ENST00000521641 UniProtKB/TrEMBL
  ENST00000522324 UniProtKB/TrEMBL
  ENST00000522803 UniProtKB/TrEMBL
  ENST00000523453 UniProtKB/TrEMBL
  ENST00000523475 UniProtKB/TrEMBL
  ENST00000620645 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188343 GTEx
HGNC ID HGNC:30452 ENTREZGENE
Human Proteome Map CIBAR1 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAR_FAM92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:137392 UniProtKB/Swiss-Prot
NCBI Gene 137392 ENTREZGENE
OMIM 617273 OMIM
  618219 OMIM
PANTHER PTHR21223 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671823 PharmGKB
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTS3_HUMAN UniProtKB/TrEMBL
  A0A0B4J212_HUMAN UniProtKB/TrEMBL
  A1XBS5 ENTREZGENE
  E5RFH7_HUMAN UniProtKB/TrEMBL
  E5RFS7_HUMAN UniProtKB/TrEMBL
  E5RGD0_HUMAN UniProtKB/TrEMBL
  E5RGE3_HUMAN UniProtKB/TrEMBL
  E5RGP4_HUMAN UniProtKB/TrEMBL
  E5RHA4_HUMAN UniProtKB/TrEMBL
  E5RHK0_HUMAN UniProtKB/TrEMBL
  E5RID3_HUMAN UniProtKB/TrEMBL
  F8W7P5_HUMAN UniProtKB/TrEMBL
  FA92A_HUMAN UniProtKB/Swiss-Prot
  H0YC32_HUMAN UniProtKB/TrEMBL
UniProt Secondary A1XBS4 UniProtKB/Swiss-Prot
  Q32ND3 UniProtKB/Swiss-Prot
  Q6AHW7 UniProtKB/Swiss-Prot
  Q8N8R1 UniProtKB/Swiss-Prot
  Q96L09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-25 CIBAR1  CBY1 interacting BAR domain containing 1  FAM92A  family with sequence similarity 92 member A  Symbol and/or name change 5135510 APPROVED
2016-10-04 FAM92A  family with sequence similarity 92 member A  FAM92A1  family with sequence similarity 92 member A1  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM92A1  family with sequence similarity 92 member A1    family with sequence similarity 92, member A1  Symbol and/or name change 5135510 APPROVED