CPT1B (carnitine palmitoyltransferase 1B) - Rat Genome Database

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Gene: CPT1B (carnitine palmitoyltransferase 1B) Homo sapiens
Analyze
Symbol: CPT1B
Name: carnitine palmitoyltransferase 1B
RGD ID: 619557
HGNC Page HGNC
Description: Enables carnitine O-palmitoyltransferase activity. Predicted to be involved in several processes, including carnitine metabolic process; long-chain fatty acid transport; and response to blue light. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: carnitine O-palmitoyltransferase 1, muscle isoform; carnitine O-palmitoyltransferase 1B; carnitine O-palmitoyltransferase I, mitochondrial muscle isoform; carnitine O-palmitoyltransferase I, muscle isoform; carnitine palmitoyltransferase 1B (muscle); carnitine palmitoyltransferase I-like protein; CPT I; CPT1-M; CPT1M; CPTI; CPTI-M; FLJ55729; FLJ58750; KIAA1670; M-CPT1; MCCPT1; MCPT1
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 Ensembl2250,568,861 - 50,578,465 (-)EnsemblGRCh38hg38GRCh38
GRCh382250,568,861 - 50,578,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372251,007,290 - 51,017,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,354,156 - 49,363,862 (-)NCBINCBI36hg18NCBI36
Build 342249,297,433 - 49,311,538NCBI
Celera2234,883,323 - 34,893,129 (-)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2233,898,289 - 33,908,095 (-)NCBIHuRef
CHM1_12250,966,023 - 50,975,829 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitroquinoline N-oxide  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
AICA ribonucleotide  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-carotene  (ISO)
bexarotene  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
choline  (ISO)
ciprofibrate  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Di-n-hexyl phthalate  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gemfibrozil  (ISO)
graphite  (ISO)
GW 501516  (ISO)
GW 6471  (ISO)
GW 7647  (ISO)
hydroxytyrosol  (ISO)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
meldonium  (ISO)
methotrexate  (ISO)
metoprolol  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
orphenadrine  (ISO)
oxybenzone  (ISO)
ozone  (EXP,ISO)
perflubutane  (ISO)
perfluorobutyric acid  (ISO)
perfluorodecanoic acid  (ISO)
perfluoroheptanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorohexanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
picrotoxin  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
rotenone  (ISO)
sirolimus  (ISO)
sodium fluoride  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (EXP,ISO)
valproic acid  (EXP,ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8125298   PMID:8679700   PMID:9070950   PMID:9199240   PMID:9224698   PMID:9344464   PMID:9693124   PMID:9830040   PMID:10408760   PMID:10493829   PMID:10591208   PMID:10918069  
PMID:11001805   PMID:11095714   PMID:11257506   PMID:11258795   PMID:12015320   PMID:12477932   PMID:12565845   PMID:15356291   PMID:15579906   PMID:15647998   PMID:16054041   PMID:17089095  
PMID:17987377   PMID:18660489   PMID:18820697   PMID:18823527   PMID:18996102   PMID:19074885   PMID:19404393   PMID:19553926   PMID:19913121   PMID:19937377   PMID:20628086   PMID:20833797  
PMID:20877624   PMID:21048031   PMID:21873635   PMID:22177342   PMID:22538307   PMID:22809552   PMID:23566841   PMID:23842279   PMID:23969696   PMID:24571861   PMID:24905907   PMID:25416956  
PMID:26041663   PMID:26058865   PMID:26080315   PMID:29657112   PMID:29676528   PMID:30846479   PMID:32296183   PMID:32606430   PMID:32648618  


Genomics

Comparative Map Data
CPT1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2250,568,861 - 50,578,465 (-)EnsemblGRCh38hg38GRCh38
GRCh382250,568,861 - 50,578,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372251,007,290 - 51,017,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,354,156 - 49,363,862 (-)NCBINCBI36hg18NCBI36
Build 342249,297,433 - 49,311,538NCBI
Celera2234,883,323 - 34,893,129 (-)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2233,898,289 - 33,908,095 (-)NCBIHuRef
CHM1_12250,966,023 - 50,975,829 (-)NCBICHM1_1
Cpt1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,300,608 - 89,310,065 (-)NCBIGRCm39mm39
GRCm39 Ensembl1589,300,608 - 89,310,066 (-)Ensembl
GRCm381589,416,405 - 89,425,862 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,416,405 - 89,425,863 (-)EnsemblGRCm38mm10GRCm38
MGSCv371589,246,836 - 89,256,293 (-)NCBIGRCm37mm9NCBIm37
MGSCv361589,244,172 - 89,253,114 (-)NCBImm8
Celera1591,545,496 - 91,554,925 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.89NCBI
Cpt1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27120,491,354 - 120,500,833 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7120,491,354 - 120,500,404 (-)Ensembl
Rnor_6.07130,395,211 - 130,404,731 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,395,194 - 130,405,347 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07130,080,032 - 130,089,314 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,737,129 - 127,746,179 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17127,771,358 - 127,780,409NCBI
Celera7116,963,968 - 116,973,018 (-)NCBICelera
Cytogenetic Map7q34NCBI
Cpt1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,578,355 - 33,588,674 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,578,734 - 33,588,055 (-)NCBIChiLan1.0ChiLan1.0
CPT1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12249,926,405 - 49,936,633 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,926,893 - 49,935,420 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02230,815,073 - 30,825,341 (-)NCBIMhudiblu_PPA_v0panPan3
CPT1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,737,106 - 16,744,626 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1016,737,289 - 16,744,624 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1016,714,785 - 16,722,260 (+)NCBI
ROS_Cfam_1.01017,463,472 - 17,470,978 (+)NCBI
UMICH_Zoey_3.11017,187,860 - 17,195,337 (+)NCBI
UNSW_CanFamBas_1.01017,510,879 - 17,518,347 (+)NCBI
UU_Cfam_GSD_1.01017,643,053 - 17,650,532 (+)NCBI
Cpt1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945246,924 - 255,324 (+)NCBI
SpeTri2.0NW_004936629246,876 - 255,537 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPT1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5151,906 - 163,546 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15155,552 - 163,536 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CPT1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11933,044,272 - 33,055,197 (-)NCBI
ChlSab1.1 Ensembl1933,043,916 - 33,054,247 (-)Ensembl
Vero_WHO_p1.0NW_02366604592,286,953 - 92,297,911 (+)NCBI
Cpt1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624752191,539 - 200,483 (+)NCBI

Position Markers
D22S975E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,009,946 - 51,010,541UniSTSGRCh37
Build 362249,356,812 - 49,357,407RGDNCBI36
Celera2234,885,979 - 34,886,574RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,900,945 - 33,901,540UniSTS
G65458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,009,756 - 51,010,116UniSTSGRCh37
Build 362249,356,622 - 49,356,982RGDNCBI36
Celera2234,885,789 - 34,886,149RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,900,755 - 33,901,115UniSTS
CPT1B_7768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,007,295 - 51,007,839UniSTSGRCh37
Build 362249,354,161 - 49,354,705RGDNCBI36
Celera2234,883,328 - 34,883,872RGD
HuRef2233,898,294 - 33,898,838UniSTS
D22S970E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,009,344 - 51,009,464UniSTSGRCh37
Build 362249,356,210 - 49,356,330RGDNCBI36
Celera2234,885,377 - 34,885,497RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,900,343 - 33,900,463UniSTS
GeneMap99-GB4 RH Map22173.77UniSTS
G20256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,007,295 - 51,007,509UniSTSGRCh37
Build 362249,354,161 - 49,354,375RGDNCBI36
Celera2234,883,328 - 34,883,542RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,898,294 - 33,898,508UniSTS
A005A09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,007,295 - 51,007,509UniSTSGRCh37
Build 362249,354,161 - 49,354,375RGDNCBI36
Celera2234,883,328 - 34,883,542RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,898,294 - 33,898,508UniSTS
GeneMap99-GB4 RH Map22173.77UniSTS
SHGC-34107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,007,299 - 51,007,440UniSTSGRCh37
Build 362249,354,165 - 49,354,306RGDNCBI36
Celera2234,883,332 - 34,883,473RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,898,298 - 33,898,439UniSTS
GeneMap99-GB4 RH Map22174.97UniSTS
Whitehead-RH Map22197.0UniSTS
MARC_16689-16690:1017862088:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,012,071 - 51,012,816UniSTSGRCh37
Build 362249,358,937 - 49,359,682RGDNCBI36
Celera2234,888,104 - 34,888,849RGD
HuRef2233,903,070 - 33,903,815UniSTS
MARC_4143-4144:996679424:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372251,017,577 - 51,018,199UniSTSGRCh37
Build 362249,364,443 - 49,365,065RGDNCBI36
Celera2234,893,610 - 34,894,232RGD

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4171
Count of miRNA genes:974
Interacting mature miRNAs:1222
Transcripts:ENST00000312108, ENST00000360719, ENST00000395650, ENST00000405237, ENST00000417176, ENST00000423069, ENST00000434492, ENST00000440709, ENST00000457250, ENST00000460853, ENST00000461117, ENST00000475238, ENST00000476790, ENST00000479886, ENST00000497224
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.


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
High
Medium 1840 1750 1324 351 1143 202 3341 2024 2697 101 979 1223 149 1108 2145
Low 561 1236 339 217 781 207 988 168 992 262 432 353 23 96 643 4
Below cutoff 30 4 55 47 18 48 27 3 21 55 40 32 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI142100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW297964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG426428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU615917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB961274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC373481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000312108   ⟹   ENSP00000312189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,568,861 - 50,578,427 (-)Ensembl
RefSeq Acc Id: ENST00000360719   ⟹   ENSP00000353945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,569,338 - 50,577,915 (-)Ensembl
RefSeq Acc Id: ENST00000395650   ⟹   ENSP00000379011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,569,084 - 50,578,455 (-)Ensembl
RefSeq Acc Id: ENST00000405237   ⟹   ENSP00000385486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,568,861 - 50,578,020 (-)Ensembl
RefSeq Acc Id: ENST00000417176   ⟹   ENSP00000406316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,576,940 - 50,578,246 (-)Ensembl
RefSeq Acc Id: ENST00000423069   ⟹   ENSP00000396408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,572,875 - 50,576,064 (-)Ensembl
RefSeq Acc Id: ENST00000457250   ⟹   ENSP00000409342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,569,338 - 50,577,915 (-)Ensembl
RefSeq Acc Id: ENST00000460853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,576,626 - 50,578,465 (-)Ensembl
RefSeq Acc Id: ENST00000461117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,576,707 - 50,577,868 (-)Ensembl
RefSeq Acc Id: ENST00000475238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,571,883 - 50,573,100 (-)Ensembl
RefSeq Acc Id: ENST00000476790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,576,056 - 50,576,903 (-)Ensembl
RefSeq Acc Id: ENST00000479886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,574,365 - 50,574,982 (-)Ensembl
RefSeq Acc Id: ENST00000497224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,570,348 - 50,572,297 (-)Ensembl
RefSeq Acc Id: NM_001145134   ⟹   NP_001138606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,861 - 50,578,612 (-)NCBI
GRCh372251,007,290 - 51,017,096 (-)ENTREZGENE
HuRef2233,898,289 - 33,908,095 (-)ENTREZGENE
CHM1_12250,966,023 - 50,975,829 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145135   ⟹   NP_001138607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,861 - 50,578,612 (-)NCBI
GRCh372251,007,290 - 51,017,096 (-)ENTREZGENE
HuRef2233,898,289 - 33,908,095 (-)ENTREZGENE
CHM1_12250,966,023 - 50,975,829 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145137   ⟹   NP_001138609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,861 - 50,578,017 (-)NCBI
GRCh372251,007,290 - 51,017,096 (-)ENTREZGENE
HuRef2233,898,289 - 33,908,095 (-)ENTREZGENE
CHM1_12250,966,023 - 50,975,239 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004377   ⟹   NP_004368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,861 - 50,578,427 (-)NCBI
GRCh372251,007,290 - 51,017,096 (-)ENTREZGENE
Build 362249,354,156 - 49,363,744 (-)NCBI Archive
HuRef2233,898,289 - 33,908,095 (-)ENTREZGENE
CHM1_12250,966,023 - 50,975,627 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152245   ⟹   NP_689451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,861 - 50,578,612 (-)NCBI
GRCh372251,007,290 - 51,017,096 (-)ENTREZGENE
Build 362249,354,156 - 49,363,862 (-)NCBI Archive
HuRef2233,898,289 - 33,908,095 (-)ENTREZGENE
CHM1_12250,966,023 - 50,975,829 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152246   ⟹   NP_689452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,861 - 50,578,427 (-)NCBI
GRCh372251,007,290 - 51,017,096 (-)ENTREZGENE
Build 362249,354,156 - 49,363,744 (-)NCBI Archive
HuRef2233,898,289 - 33,908,095 (-)ENTREZGENE
CHM1_12250,966,023 - 50,975,627 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001138606   ⟸   NM_001145134
- Peptide Label: isoform c
- UniProtKB: Q92523 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138607   ⟸   NM_001145135
- Peptide Label: isoform a
- UniProtKB: Q92523 (UniProtKB/Swiss-Prot),   A0A024R4W7 (UniProtKB/TrEMBL),   A5PLL0 (UniProtKB/TrEMBL),   Q53FV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_689451   ⟸   NM_152245
- Peptide Label: isoform a
- UniProtKB: Q92523 (UniProtKB/Swiss-Prot),   A0A024R4W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_689452   ⟸   NM_152246
- Peptide Label: isoform a
- UniProtKB: Q92523 (UniProtKB/Swiss-Prot),   A0A024R4W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004368   ⟸   NM_004377
- Peptide Label: isoform a
- UniProtKB: Q92523 (UniProtKB/Swiss-Prot),   A0A024R4W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138609   ⟸   NM_001145137
- Peptide Label: isoform a
- UniProtKB: Q92523 (UniProtKB/Swiss-Prot),   A0A024R4W7 (UniProtKB/TrEMBL),   A5PLL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396408   ⟸   ENST00000423069
RefSeq Acc Id: ENSP00000353945   ⟸   ENST00000360719
RefSeq Acc Id: ENSP00000406316   ⟸   ENST00000417176
RefSeq Acc Id: ENSP00000409342   ⟸   ENST00000457250
RefSeq Acc Id: ENSP00000312189   ⟸   ENST00000312108
RefSeq Acc Id: ENSP00000385486   ⟸   ENST00000405237
RefSeq Acc Id: ENSP00000379011   ⟸   ENST00000395650
Protein Domains
Carn_acyltransf   CPT_N

Promoters
RGD ID:6799772
Promoter ID:HG_KWN:43405
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000317653
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,359,536 - 49,360,036 (-)MPROMDB
RGD ID:6799777
Promoter ID:HG_KWN:43406
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000317652,   OTTHUMT00000317654
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,361,886 - 49,362,992 (-)MPROMDB
RGD ID:6799770
Promoter ID:HG_KWN:43407
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000360719,   ENST00000405237,   NM_001145134,   NM_001145136,   NM_152246,   OTTHUMT00000317264,   OTTHUMT00000317649,   OTTHUMT00000317650,   OTTHUMT00000317651,   UC003BMO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,363,076 - 49,364,602 (-)MPROMDB
RGD ID:6799760
Promoter ID:HG_KWN:43408
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000317265,   OTTHUMT00000317601,   OTTHUMT00000317605,   OTTHUMT00000317657,   OTTHUMT00000317658,   UC003BMP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,364,941 - 49,366,987 (-)MPROMDB
RGD ID:6799768
Promoter ID:HG_KWN:43409
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000395651
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,368,061 - 49,368,677 (-)MPROMDB
RGD ID:13604572
Promoter ID:EPDNEW_H28470
Type:initiation region
Name:CPT1B_2
Description:carnitine palmitoyltransferase 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28471  EPDNEW_H28472  EPDNEW_H28474  EPDNEW_H28473  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,568,972 - 50,569,032EPDNEW
RGD ID:13604574
Promoter ID:EPDNEW_H28471
Type:initiation region
Name:CPT1B_5
Description:carnitine palmitoyltransferase 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28470  EPDNEW_H28472  EPDNEW_H28474  EPDNEW_H28473  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,572,048 - 50,572,108EPDNEW
RGD ID:13604576
Promoter ID:EPDNEW_H28472
Type:initiation region
Name:CPT1B_3
Description:carnitine palmitoyltransferase 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28470  EPDNEW_H28471  EPDNEW_H28474  EPDNEW_H28473  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,576,953 - 50,577,013EPDNEW
RGD ID:13604580
Promoter ID:EPDNEW_H28473
Type:initiation region
Name:CPT1B_4
Description:carnitine palmitoyltransferase 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28470  EPDNEW_H28471  EPDNEW_H28472  EPDNEW_H28474  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,577,941 - 50,578,001EPDNEW
RGD ID:13604578
Promoter ID:EPDNEW_H28474
Type:initiation region
Name:CPT1B_1
Description:carnitine palmitoyltransferase 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28470  EPDNEW_H28471  EPDNEW_H28472  EPDNEW_H28473  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,578,409 - 50,578,469EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
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 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
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 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000052894] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
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
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
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 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 copy number gain See cases [RCV000136874] Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 copy number loss See cases [RCV000142303] Chr22:50485457..50759410 [GRCh38]
Chr22:50923886..51197838 [GRCh37]
Chr22:49270752..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50560890-50739829)x3 copy number gain See cases [RCV000143203] Chr22:50560890..50739829 [GRCh38]
Chr22:50999319..51178257 [GRCh37]
Chr22:49346185..49525123 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000148204] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3 copy number gain Ductal breast carcinoma [RCV000207317] Chr22:50964500..51016275 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33
pathogenic
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 22q13.33(chr22:50922386-51205985)x1 copy number loss See cases [RCV000240423] Chr22:50922386..51205985 [GRCh37]
Chr22:22q13.33
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 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss 22q13.3 deletion syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33
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 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 copy number gain See cases [RCV000447418] Chr22:50941373..51066468 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
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 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 copy number gain See cases [RCV000511797] Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
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 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33
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 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50973975-51183840)x1 copy number loss not provided [RCV000684461] Chr22:50973975..51183840 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33
pathogenic
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 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33
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 22q13.33(chr22:50921022-51054264)x3 copy number gain not provided [RCV000742112] Chr22:50921022..51054264 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:50923113-51055900)x3 copy number gain not provided [RCV000742113] Chr22:50923113..51055900 [GRCh37]
Chr22:22q13.33
benign
NM_152246.3(CPT1B):c.460-8A>G single nucleotide variant not provided [RCV000920946] Chr22:50576645 [GRCh38]
Chr22:51015074 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50966042-51090760)x1 copy number loss not provided [RCV001007196] Chr22:50966042..51090760 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
NM_152246.3(CPT1B):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV000959991] Chr22:50574574 [GRCh38]
Chr22:51013003 [GRCh37]
Chr22:22q13.33
benign
NM_152246.3(CPT1B):c.754G>A (p.Val252Met) single nucleotide variant Severe Myopia [RCV000785687] Chr22:50576058 [GRCh38]
Chr22:51014487 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 copy number gain not provided [RCV001007195] Chr22:50893448..51060012 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33
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
NM_152246.3(CPT1B):c.1353-6C>T single nucleotide variant not provided [RCV000974334] Chr22:50572314 [GRCh38]
Chr22:51010743 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_152246.3(CPT1B):c.2310C>G (p.Ala770=) single nucleotide variant not provided [RCV000958302] Chr22:50569347 [GRCh38]
Chr22:51007776 [GRCh37]
Chr22:22q13.33
benign
NM_152246.3(CPT1B):c.1422G>A (p.Ala474=) single nucleotide variant not provided [RCV000889872] Chr22:50572239 [GRCh38]
Chr22:51010668 [GRCh37]
Chr22:22q13.33
benign
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
NC_000022.10:g.(?_50964189)_(51066217_?)del deletion not provided [RCV001031919] Chr22:50964189..51066217 [GRCh37]
Chr22:22q13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33
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
Single allele deletion 22q13.3 deletion syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 copy number loss not provided [RCV001258791] Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50990475-51165799)x3 copy number gain not provided [RCV001258793] Chr22:50990475..51165799 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33
pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2329 AgrOrtholog
COSMIC CPT1B COSMIC
Ensembl Genes ENSG00000205560 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312189 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353945 UniProtKB/Swiss-Prot
  ENSP00000379011 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396408 UniProtKB/TrEMBL
  ENSP00000406316 UniProtKB/TrEMBL
  ENSP00000409342 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000312108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360719 UniProtKB/Swiss-Prot
  ENST00000395650 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405237 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417176 UniProtKB/TrEMBL
  ENST00000423069 UniProtKB/TrEMBL
  ENST00000457250 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.559.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.559.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205560 GTEx
HGNC ID HGNC:2329 ENTREZGENE
Human Proteome Map CPT1B Human Proteome Map
InterPro Carn_acyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cho/carn_acyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cho/carn_acyl_trans_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cho/carn_acyl_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1375 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1375 ENTREZGENE
OMIM 601987 OMIM
PANTHER PTHR22589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carn_acyltransf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26848 PharmGKB
PROSITE ACYLTRANSF_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACYLTRANSF_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R4W7 ENTREZGENE, UniProtKB/TrEMBL
  A2RRE8_HUMAN UniProtKB/TrEMBL
  A5PLL0 ENTREZGENE, UniProtKB/TrEMBL
  C9J7C3_HUMAN UniProtKB/TrEMBL
  CPT1B_HUMAN UniProtKB/Swiss-Prot
  H7C0S1_HUMAN UniProtKB/TrEMBL
  Q53FV7 ENTREZGENE, UniProtKB/TrEMBL
  Q92523 ENTREZGENE
UniProt Secondary B7Z4U4 UniProtKB/Swiss-Prot
  B7Z5T8 UniProtKB/Swiss-Prot
  E9PCP2 UniProtKB/Swiss-Prot
  Q13389 UniProtKB/Swiss-Prot
  Q99655 UniProtKB/Swiss-Prot
  Q9BY90 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CPT1B  carnitine palmitoyltransferase 1B  CPT1B  carnitine palmitoyltransferase 1B (muscle)  Symbol and/or name change 5135510 APPROVED