CHML (CHM like Rab escort protein) - Rat Genome Database

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Gene: CHML (CHM like Rab escort protein) Homo sapiens
Analyze
Symbol: CHML
Name: CHM like Rab escort protein
RGD ID: 1313260
HGNC Page HGNC
Description: Enables small GTPase binding activity. Involved in protein geranylgeranylation. Located in cytosol and nucleoplasm. Part of Rab-protein geranylgeranyltransferase complex. Implicated in asthma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHM like Rab escort protein 2; CHM like, Rab escort protein 2; choroideraemia-like protein; choroideremia-like (Rab escort protein 2); choroideremia-like protein; FLJ10071; FLJ13361; rab escort protein 2; rab proteins geranylgeranyltransferase component A 2; REP-2, Rab escort protein 2; REP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
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 Ensembl1241,628,851 - 241,640,369 (-)EnsemblGRCh38hg38GRCh38
GRCh381241,628,851 - 241,640,369 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371241,792,153 - 241,803,671 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,858,789 - 239,865,855 (-)NCBINCBI36hg18NCBI36
Build 341238,118,203 - 238,125,273NCBI
Celera1215,047,269 - 215,054,335 (-)NCBI
Cytogenetic Map1q43NCBI
HuRef1212,250,224 - 212,257,290 (-)NCBIHuRef
CHM1_11243,064,835 - 243,071,901 (-)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

Additional References at PubMed
PMID:1301160   PMID:7592656   PMID:7981670   PMID:8188272   PMID:8294464   PMID:9730828   PMID:11056004   PMID:12242008   PMID:12356470   PMID:12477932   PMID:12535645   PMID:14702039  
PMID:15146197   PMID:15186776   PMID:15489334   PMID:16341674   PMID:16344560   PMID:16710414   PMID:16712791   PMID:18344558   PMID:19626040   PMID:21873635   PMID:26186194   PMID:26344197  
PMID:28514442   PMID:29117863   PMID:29568061   PMID:29676528   PMID:31175290   PMID:32877691   PMID:33001583   PMID:34079125  


Genomics

Comparative Map Data
CHML
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1241,628,851 - 241,640,369 (-)EnsemblGRCh38hg38GRCh38
GRCh381241,628,851 - 241,640,369 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371241,792,153 - 241,803,671 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,858,789 - 239,865,855 (-)NCBINCBI36hg18NCBI36
Build 341238,118,203 - 238,125,273NCBI
Celera1215,047,269 - 215,054,335 (-)NCBI
Cytogenetic Map1q43NCBI
HuRef1212,250,224 - 212,257,290 (-)NCBIHuRef
CHM1_11243,064,835 - 243,071,901 (-)NCBICHM1_1
Chml
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,509,803 - 175,515,919 (-)NCBIGRCm39mm39
GRCm39 Ensembl1175,509,803 - 175,520,467 (-)Ensembl
GRCm381175,682,237 - 175,688,353 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,682,237 - 175,692,901 (-)EnsemblGRCm38mm10GRCm38
MGSCv371177,612,368 - 177,618,484 (-)NCBIGRCm37mm9NCBIm37
MGSCv361177,523,163 - 177,525,028 (-)NCBImm8
Celera1182,767,895 - 182,774,011 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map181.7NCBI
Chml
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21387,613,610 - 87,615,475 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1387,589,298 - 87,619,862 (-)Ensembl
Rnor_6.01393,740,759 - 93,742,624 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01398,205,028 - 98,206,893 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,420,770 - 91,422,635 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1387,212,029 - 87,213,894 (-)NCBICelera
Cytogenetic Map13q25NCBI
Chml
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540610,455,367 - 10,461,934 (+)NCBIChiLan1.0ChiLan1.0
CHML
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11222,171,842 - 222,182,951 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01217,191,065 - 217,202,578 (-)NCBIMhudiblu_PPA_v0panPan3
Chml
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934445,903,365 - 45,909,195 (-)NCBI
SpeTri2.0NW_0049365268,833,921 - 8,844,484 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHML
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1011,835,582 - 11,845,804 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11011,835,472 - 11,845,833 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21014,057,719 - 14,062,929 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHML
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,712,003 - 78,714,842 (-)NCBI
Vero_WHO_p1.0NW_02366605580,845,319 - 80,848,158 (-)NCBI
Chml
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477111,981,078 - 11,987,379 (-)NCBI

Position Markers
RH99149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,670 - 241,796,819UniSTSGRCh37
Build 361239,863,293 - 239,863,442RGDNCBI36
Celera1215,051,773 - 215,051,922RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,254,728 - 212,254,877UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
SHGC-106687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,867 - 241,797,140UniSTSGRCh37
Build 361239,863,490 - 239,863,763RGDNCBI36
Celera1215,051,970 - 215,052,243RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,254,925 - 212,255,198UniSTS
TNG Radiation Hybrid Map1122274.0UniSTS
SHGC-76595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,943 - 241,797,099UniSTSGRCh37
Build 361239,863,566 - 239,863,722RGDNCBI36
Celera1215,052,046 - 215,052,202RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,255,001 - 212,255,157UniSTS
TNG Radiation Hybrid Map1122270.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1921.2UniSTS
NCBI RH Map11965.8UniSTS
SHGC-12642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,796,934 - 241,797,084UniSTSGRCh37
Build 361239,863,557 - 239,863,707RGDNCBI36
Celera1215,052,037 - 215,052,187RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,254,992 - 212,255,142UniSTS
GeneMap99-G3 RH Map19354.0UniSTS
SHGC-76599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,792,448 - 241,792,567UniSTSGRCh37
Build 361239,859,071 - 239,859,190RGDNCBI36
Celera1215,047,551 - 215,047,670RGD
Cytogenetic Map1q42-qterUniSTS
Cytogenetic Map1q43UniSTS
HuRef1212,250,506 - 212,250,625UniSTS
TNG Radiation Hybrid Map1122266.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1407
Count of miRNA genes:772
Interacting mature miRNAs:898
Transcripts:ENST00000366553
Prediction methods:Miranda
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 adipose tissue appendage entire extraembryonic component
High
Medium 134 364 80 52 562 56 709 56 360 117 396 286 9 7 413 4
Low 2298 2085 1622 552 921 390 3645 2069 3265 300 1052 1321 162 1196 2374
Below cutoff 534 21 18 464 18 1 68 83 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001381853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF482426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG108374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI088411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM457359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM470658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM557064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM763291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM806625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ775652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU187416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU195066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB160778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN415289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA612361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X64728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366553   ⟹   ENSP00000355511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,628,851 - 241,640,369 (-)Ensembl
RefSeq Acc Id: ENST00000636025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,635,770 - 241,639,249 (-)Ensembl
RefSeq Acc Id: ENST00000638018   ⟹   ENSP00000490147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,635,466 - 241,640,254 (-)Ensembl
RefSeq Acc Id: ENST00000638121   ⟹   ENSP00000490694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,635,527 - 241,640,254 (-)Ensembl
RefSeq Acc Id: ENST00000638160   ⟹   ENSP00000490433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1241,635,466 - 241,640,254 (-)Ensembl
RefSeq Acc Id: NM_001381853   ⟹   NP_001368782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,628,851 - 241,640,369 (-)NCBI
RefSeq Acc Id: NM_001381854   ⟹   NP_001368783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,628,851 - 241,640,369 (-)NCBI
RefSeq Acc Id: NM_001821   ⟹   NP_001812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,628,851 - 241,636,194 (-)NCBI
GRCh371241,792,166 - 241,799,232 (-)ENTREZGENE
Build 361239,858,789 - 239,865,855 (-)NCBI Archive
HuRef1212,250,224 - 212,257,290 (-)ENTREZGENE
CHM1_11243,064,835 - 243,071,901 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001812   ⟸   NM_001821
- UniProtKB: P26374 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001368783   ⟸   NM_001381854
RefSeq Acc Id: NP_001368782   ⟸   NM_001381853
RefSeq Acc Id: ENSP00000490694   ⟸   ENST00000638121
RefSeq Acc Id: ENSP00000490433   ⟸   ENST00000638160
RefSeq Acc Id: ENSP00000490147   ⟸   ENST00000638018
RefSeq Acc Id: ENSP00000355511   ⟸   ENST00000366553
Protein Domains
G_PROTEIN_RECEP_F1_2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43(chr1:241358731-241676967)x3 copy number gain See cases [RCV000051589] Chr1:241358731..241676967 [GRCh38]
Chr1:241522031..241840269 [GRCh37]
Chr1:239588654..239906892 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44
pathogenic
NM_001821.3(CHML):c.1127T>G (p.Leu376Ter) single nucleotide variant Malignant melanoma [RCV000060123] Chr1:241634640 [GRCh38]
Chr1:241797942 [GRCh37]
Chr1:239864565 [NCBI36]
Chr1:1q43
not provided
NM_001821.3(CHML):c.984T>A (p.Thr328=) single nucleotide variant Malignant melanoma [RCV000060124] Chr1:241634783 [GRCh38]
Chr1:241798085 [GRCh37]
Chr1:239864708 [NCBI36]
Chr1:1q43
not provided
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 copy number gain See cases [RCV000136503] Chr1:241625115..245453782 [GRCh38]
Chr1:241788417..245617084 [GRCh37]
Chr1:239855040..243683707 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
NC_000001.10:g.(?_241661128)_(242034263_?)del deletion Fumarase deficiency [RCV001032378] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q43(chr1:241499877-241885359)x3 copy number gain not provided [RCV000848301] Chr1:241499877..241885359 [GRCh37]
Chr1:1q43
uncertain significance
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43(chr1:241106058-242088336)x3 copy number gain not provided [RCV000847311] Chr1:241106058..242088336 [GRCh37]
Chr1:1q43
uncertain significance
NM_014322.3(OPN3):c.240G>C (p.Leu80=) single nucleotide variant not provided [RCV000955897] Chr1:241640015 [GRCh38]
Chr1:241803317 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43(chr1:241680265-241929583)x3 copy number gain not provided [RCV001005200] Chr1:241680265..241929583 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_014322.3(OPN3):c.276C>T (p.Leu92=) single nucleotide variant not provided [RCV000927120] Chr1:241639979 [GRCh38]
Chr1:241803281 [GRCh37]
Chr1:1q43
likely benign
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43
pathogenic
NC_000001.10:g.(?_241661128)_(242034263_?)dup duplication Fumarase deficiency [RCV001033301] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:241496526-241885359)x3 copy number gain not provided [RCV001259121] Chr1:241496526..241885359 [GRCh37]
Chr1:1q43
likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1941 AgrOrtholog
COSMIC CHML COSMIC
Ensembl Genes ENSG00000203668 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355511 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490147 UniProtKB/TrEMBL
  ENSP00000490433 UniProtKB/TrEMBL
  ENSP00000490694 UniProtKB/TrEMBL
Ensembl Transcript ENST00000366553 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638018 UniProtKB/TrEMBL
  ENST00000638121 UniProtKB/TrEMBL
  ENST00000638160 UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000203668 GTEx
HGNC ID HGNC:1941 ENTREZGENE
Human Proteome Map CHML Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDP_dissociation_inhibitor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/TrEMBL
  Rab_escort UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1122 UniProtKB/Swiss-Prot
NCBI Gene 1122 ENTREZGENE
OMIM 118825 OMIM
PANTHER PTHR11787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/TrEMBL
  GDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26472 PharmGKB
PIRSF Rab_ger_ger_transf_A_euk UniProtKB/Swiss-Prot
PRINTS GPCRRHODOPSN UniProtKB/TrEMBL
  RABESCORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABGDIREP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_2 UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GUK6_HUMAN UniProtKB/TrEMBL
  A0A1B0GVA4_HUMAN UniProtKB/TrEMBL
  A0A1B0GVX9_HUMAN UniProtKB/TrEMBL
  P26374 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RAB9 UniProtKB/Swiss-Prot
  Q17RE0 UniProtKB/Swiss-Prot
  Q9H1Y4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 CHML  CHM like Rab escort protein    CHM like Rab escort protein 2  Symbol and/or name change 5135510 APPROVED
2019-01-29 CHML  CHM like Rab escort protein 2    CHM like, Rab escort protein 2  Symbol and/or name change 5135510 APPROVED
2016-06-21 CHML  CHM like, Rab escort protein 2    choroideremia-like (Rab escort protein 2)  Symbol and/or name change 5135510 APPROVED
2011-08-17 CHML  choroideremia-like (Rab escort protein 2)  CHML  choroideremia-like (Rab escort protein 2)  Symbol and/or name change 5135510 APPROVED