CTH (cystathionine gamma-lyase) - Rat Genome Database

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Gene: CTH (cystathionine gamma-lyase) Homo sapiens
Analyze
Symbol: CTH
Name: cystathionine gamma-lyase
RGD ID: 732084
HGNC Page HGNC:2501
Description: Enables carbon-sulfur lyase activity; identical protein binding activity; and pyridoxal phosphate binding activity. Involved in several processes, including cysteine metabolic process; hydrogen sulfide biosynthetic process; and protein modification process. Located in extracellular exosome. Implicated in amino acid metabolic disorder and cystathioninuria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CGL; CSE; cystathionase (cystathionine gamma-lyase); cysteine desulfhydrase; cysteine-protein sulfhydrase; gamma-cystathionase; homocysteine desulfhydrase; homoserine deaminase; homoserine dehydratase; MGC9471
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
GRCh38170,411,268 - 70,439,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl170,411,218 - 70,439,851 (+)EnsemblGRCh38hg38GRCh38
GRCh37170,876,951 - 70,905,534 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36170,649,543 - 70,677,841 (+)NCBINCBI36hg18NCBI36
Build 34170,588,975 - 70,617,273NCBI
Celera169,166,835 - 69,195,464 (+)NCBI
Cytogenetic Map1p31.1NCBI
HuRef168,987,754 - 69,016,606 (+)NCBIHuRef
CHM1_1170,992,268 - 71,020,901 (+)NCBICHM1_1
T2T-CHM13v2.0170,289,775 - 70,318,361 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (EXP)
acrylonitrile  (ISO)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
AM-251  (EXP)
ammonium chloride  (ISO)
antimycin A  (ISO)
aristolochic acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bexarotene  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
butyric acid  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
cannabidiol  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (ISO)
chloroacetaldehyde  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dichloromethane  (EXP)
diclofenac  (EXP)
diiodine  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP,ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
etoposide  (EXP)
fenofibrate  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (EXP,ISO)
hydroquinone  (EXP)
ibuprofen  (ISO)
ifosfamide  (EXP)
imidacloprid  (ISO)
indometacin  (EXP)
irinotecan  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-cysteine  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxyacetic acid  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mitoxantrone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
motexafin gadolinium  (EXP)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalenes  (ISO)
nefazodone  (ISO)
neomycin  (ISO)
nickel dichloride  (EXP,ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
nitroflurbiprofen  (ISO)
O-methyleugenol  (EXP)
o-xylene  (EXP)
ochratoxin A  (EXP,ISO)
Octicizer  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP)
potassium cyanide  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (ISO)
rac-lactic acid  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sodium perchlorate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
tauroursodeoxycholic acid  (ISO)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thiabendazole  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
toluene  (EXP)
torcetrapib  (EXP)
tributyl phosphate  (ISO)
trichloroethene  (EXP,ISO)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
undecane  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zinc acetate  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (TAS)
extracellular exosome  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Characterization of homocysteine metabolism in the rat kidney. House JD, etal., Biochem J 1997 Nov 15;328 ( Pt 1):287-92.
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Bile-acid-activated farnesoid X receptor regulates hydrogen sulfide production and hepatic microcirculation. Renga B, etal., World J Gastroenterol. 2009 May 7;15(17):2097-108. doi: 10.3748/wjg.15.2097.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Age-associated oxidative damage leads to absence of gamma-cystathionase in over 50% of rat lenses: relevance in cataractogenesis. Sastre J, etal., Free Radic Biol Med. 2005 Mar 1;38(5):575-82.
11. Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur. Stipanuk MH and Ueki I, J Inherit Metab Dis. 2011 Feb;34(1):17-32. doi: 10.1007/s10545-009-9006-9. Epub 2010 Feb 17.
12. Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). Wang J and Hegele RA, Hum Genet. 2003 Apr;112(4):404-8. Epub 2003 Feb 6.
Additional References at PubMed
PMID:1339280   PMID:8125298   PMID:10212249   PMID:12477932   PMID:15151507   PMID:15347670   PMID:15489334   PMID:16189514   PMID:16710414   PMID:17311259   PMID:18029348   PMID:18476726  
PMID:18676680   PMID:18701025   PMID:18849566   PMID:18988749   PMID:19019829   PMID:19048631   PMID:19056867   PMID:19161160   PMID:19170196   PMID:19261609   PMID:19322201   PMID:19324355  
PMID:19428278   PMID:19531479   PMID:19625176   PMID:19692168   PMID:19913121   PMID:19948975   PMID:20175737   PMID:20446008   PMID:20584029   PMID:20628086   PMID:20634891   PMID:20849728  
PMID:21507721   PMID:21659522   PMID:21873635   PMID:21886822   PMID:21988832   PMID:22034194   PMID:22169477   PMID:22310774   PMID:22360859   PMID:22863883   PMID:23393010   PMID:23410520  
PMID:23704251   PMID:23852134   PMID:24025145   PMID:24491890   PMID:24610811   PMID:24657251   PMID:24707893   PMID:24866963   PMID:24896355   PMID:24914509   PMID:25193114   PMID:25203395  
PMID:25205294   PMID:25416956   PMID:25486189   PMID:25609649   PMID:25801727   PMID:25807836   PMID:25934094   PMID:26060478   PMID:26186194   PMID:26344197   PMID:26519030   PMID:26620565  
PMID:26631093   PMID:26727544   PMID:26772887   PMID:27205869   PMID:27708362   PMID:28034716   PMID:28121025   PMID:28253731   PMID:28339573   PMID:28514442   PMID:28515276   PMID:29413960  
PMID:29844591   PMID:29970364   PMID:30646578   PMID:30860977   PMID:31073040   PMID:31084929   PMID:31173185   PMID:31439665   PMID:31468690   PMID:31759247   PMID:32235678   PMID:32296183  
PMID:32563979   PMID:33729478   PMID:33760156   PMID:33903672   PMID:33961781   PMID:35509820  


Genomics

Comparative Map Data
CTH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38170,411,268 - 70,439,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl170,411,218 - 70,439,851 (+)EnsemblGRCh38hg38GRCh38
GRCh37170,876,951 - 70,905,534 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36170,649,543 - 70,677,841 (+)NCBINCBI36hg18NCBI36
Build 34170,588,975 - 70,617,273NCBI
Celera169,166,835 - 69,195,464 (+)NCBI
Cytogenetic Map1p31.1NCBI
HuRef168,987,754 - 69,016,606 (+)NCBIHuRef
CHM1_1170,992,268 - 71,020,901 (+)NCBICHM1_1
T2T-CHM13v2.0170,289,775 - 70,318,361 (+)NCBI
Cth
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393157,599,885 - 157,630,718 (-)NCBIGRCm39mm39
GRCm39 Ensembl3157,599,885 - 157,630,714 (-)Ensembl
GRCm383157,894,248 - 157,925,081 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3157,894,248 - 157,925,077 (-)EnsemblGRCm38mm10GRCm38
MGSCv373157,557,212 - 157,588,027 (-)NCBIGRCm37mm9NCBIm37
MGSCv363157,829,541 - 157,860,356 (-)NCBImm8
Celera3164,361,761 - 164,392,686 (-)NCBICelera
Cytogenetic Map3H4NCBI
Cth
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22246,975,888 - 247,002,234 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2246,975,894 - 247,002,234 (-)Ensembl
Rnor_6.02264,266,959 - 264,293,040 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2264,266,984 - 264,293,046 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02282,366,125 - 282,392,112 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42256,056,562 - 256,082,248 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12256,071,168 - 256,096,855 (-)NCBI
Celera2238,776,532 - 238,802,647 (-)NCBICelera
Cytogenetic Map2q45NCBI
Cth
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542321,542,179 - 21,567,786 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542321,542,587 - 21,567,935 (-)NCBIChiLan1.0ChiLan1.0
CTH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1171,629,637 - 71,657,322 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl171,629,333 - 71,677,666 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0169,646,608 - 69,674,301 (+)NCBIMhudiblu_PPA_v0panPan3
CTH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1675,324,328 - 75,348,476 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl675,324,787 - 75,349,451 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha677,937,741 - 77,962,253 (-)NCBI
ROS_Cfam_1.0675,916,530 - 75,940,965 (-)NCBI
UMICH_Zoey_3.1675,469,819 - 75,494,076 (-)NCBI
UNSW_CanFamBas_1.0675,365,148 - 75,389,608 (-)NCBI
UU_Cfam_GSD_1.0675,865,823 - 75,890,332 (-)NCBI
Cth
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505882,845,843 - 82,870,103 (+)NCBI
SpeTri2.0NW_0049365911,619,446 - 1,643,667 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6142,454,914 - 142,486,367 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16142,454,922 - 142,486,352 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26132,027,445 - 132,050,236 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12062,672,820 - 62,718,608 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2062,690,906 - 62,718,980 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603354,904,075 - 54,931,820 (+)NCBIVero_WHO_p1.0
Cth
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474225,619,277 - 25,642,875 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462474225,619,261 - 25,642,477 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D1S501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37170,904,497 - 70,904,615UniSTSGRCh37
GRCh37170,904,498 - 70,904,669UniSTSGRCh37
Build 36170,677,086 - 70,677,257RGDNCBI36
Celera169,194,428 - 69,194,599RGD
Celera169,194,427 - 69,194,545UniSTS
Cytogenetic Map1p31.1UniSTS
HuRef169,015,564 - 69,015,741UniSTS
HuRef169,015,563 - 69,015,687UniSTS
Marshfield Genetic Map1102.02UniSTS
Marshfield Genetic Map1102.02RGD
Genethon Genetic Map1104.3UniSTS
TNG Radiation Hybrid Map139287.0UniSTS
deCODE Assembly Map197.72UniSTS
GeneMap99-GB4 RH Map1187.68UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map13532.0UniSTS
RH65074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37170,905,051 - 70,905,213UniSTSGRCh37
Build 36170,677,639 - 70,677,801RGDNCBI36
Celera169,194,981 - 69,195,143RGD
Cytogenetic Map1p31.1UniSTS
HuRef169,016,123 - 69,016,285UniSTS
CTH_8288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37170,904,793 - 70,905,299UniSTSGRCh37
Build 36170,677,381 - 70,677,887RGDNCBI36
Celera169,194,723 - 69,195,229RGD
HuRef169,015,865 - 69,016,371UniSTS
RH66843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37170,904,368 - 70,904,508UniSTSGRCh37
Build 36170,676,956 - 70,677,096RGDNCBI36
Celera169,194,298 - 69,194,438RGD
Cytogenetic Map1p31.1UniSTS
HuRef169,015,434 - 69,015,574UniSTS
GeneMap99-GB4 RH Map1187.68UniSTS
D1S501  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31.1UniSTS
TNG Radiation Hybrid Map139287.0UniSTS
GeneMap99-G3 RH Map13532.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:587
Count of miRNA genes:389
Interacting mature miRNAs:402
Transcripts:ENST00000346806, ENST00000370938, ENST00000411986, ENST00000464926, ENST00000482383
Prediction methods: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 pharyngeal arch
High 2 2 2
Medium 175 250 806 404 499 407 636 57 325 78 393 491 5 1 83 382 2 1
Low 2259 2114 917 218 945 56 3661 1982 3393 334 1065 1121 170 1121 2364 3 1
Below cutoff 5 624 1 503 60 158 16 6 2 1 42 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK223376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB466459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S52028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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Reference Sequences
RefSeq Acc Id: ENST00000346806   ⟹   ENSP00000311554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl170,411,383 - 70,439,204 (+)Ensembl
RefSeq Acc Id: ENST00000370938   ⟹   ENSP00000359976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl170,411,268 - 70,439,851 (+)Ensembl
RefSeq Acc Id: ENST00000411986   ⟹   ENSP00000413407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl170,411,218 - 70,439,851 (+)Ensembl
RefSeq Acc Id: ENST00000464926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl170,411,272 - 70,430,394 (+)Ensembl
RefSeq Acc Id: ENST00000482383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl170,434,851 - 70,439,232 (+)Ensembl
RefSeq Acc Id: NM_001190463   ⟹   NP_001177392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38170,411,268 - 70,439,851 (+)NCBI
GRCh37170,876,901 - 70,905,534 (+)ENTREZGENE
HuRef168,987,754 - 69,016,606 (+)ENTREZGENE
CHM1_1170,992,268 - 71,020,901 (+)NCBI
T2T-CHM13v2.0170,289,775 - 70,318,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001902   ⟹   NP_001893
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38170,411,268 - 70,439,851 (+)NCBI
GRCh37170,876,901 - 70,905,534 (+)ENTREZGENE
Build 36170,649,543 - 70,677,841 (+)NCBI Archive
HuRef168,987,754 - 69,016,606 (+)ENTREZGENE
CHM1_1170,992,268 - 71,020,901 (+)NCBI
T2T-CHM13v2.0170,289,775 - 70,318,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153742   ⟹   NP_714964
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38170,411,268 - 70,439,851 (+)NCBI
GRCh37170,876,901 - 70,905,534 (+)ENTREZGENE
Build 36170,649,543 - 70,677,841 (+)NCBI Archive
HuRef168,987,754 - 69,016,606 (+)ENTREZGENE
CHM1_1170,992,268 - 71,020,901 (+)NCBI
T2T-CHM13v2.0170,289,775 - 70,318,361 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000416   ⟹   XP_016855905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38170,423,134 - 70,439,851 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001893   ⟸   NM_001902
- Peptide Label: isoform 1
- UniProtKB: Q9H4W8 (UniProtKB/Swiss-Prot),   P32929 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_714964   ⟸   NM_153742
- Peptide Label: isoform 2
- UniProtKB: P32929 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177392   ⟸   NM_001190463
- Peptide Label: isoform 3
- UniProtKB: P32929 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855905   ⟸   XM_017000416
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359976   ⟸   ENST00000370938
RefSeq Acc Id: ENSP00000311554   ⟸   ENST00000346806
RefSeq Acc Id: ENSP00000413407   ⟸   ENST00000411986

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P32929-F1-model_v2 AlphaFold P32929 1-405 view protein structure

Promoters
RGD ID:6855878
Promoter ID:EPDNEW_H1104
Type:initiation region
Name:CTH_1
Description:cystathionine gamma-lyase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38170,411,268 - 70,411,328EPDNEW
RGD ID:6784983
Promoter ID:HG_KWN:3224
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001902,   NM_153742,   OTTHUMT00000025920,   UC009WBL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36170,649,259 - 70,649,759 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001902.6(CTH):c.784_785del (p.Leu262fs) microsatellite Cystathioninuria [RCV000003071] Chr1:70432140..70432141 [GRCh38]
Chr1:70897823..70897824 [GRCh37]
Chr1:1p31.1
pathogenic
CTH, 1-BP DEL, 1220C deletion Cystathioninuria [RCV000003072] Chr1:1p31.1 pathogenic
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) single nucleotide variant Cystathioninuria [RCV000003073]|not provided [RCV000727631] Chr1:70415987 [GRCh38]
Chr1:70881670 [GRCh37]
Chr1:1p31.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001902.6(CTH):c.718C>G (p.Gln240Glu) single nucleotide variant Cystathioninuria [RCV000003074] Chr1:70430388 [GRCh38]
Chr1:70896071 [GRCh37]
Chr1:1p31.1
pathogenic
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) single nucleotide variant Cystathioninuria [RCV000331590]|Homocysteine level elevated [RCV000003075] Chr1:70439117 [GRCh38]
Chr1:70904800 [GRCh37]
Chr1:1p31.1
pathogenic|association|benign|likely benign
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1 copy number loss See cases [RCV000053843] Chr1:67239704..71924806 [GRCh38]
Chr1:67705387..72390489 [GRCh37]
Chr1:67477975..72163077 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
NM_001902.6(CTH):c.995T>C (p.Leu332Pro) single nucleotide variant Cystathioninuria [RCV000363452] Chr1:70433945 [GRCh38]
Chr1:70899628 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1 copy number loss See cases [RCV000137172] Chr1:69324212..70840573 [GRCh38]
Chr1:69789895..71306256 [GRCh37]
Chr1:69562483..71078844 [NCBI36]
Chr1:1p31.1
uncertain significance
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 copy number loss See cases [RCV000143129] Chr1:66865125..77123381 [GRCh38]
Chr1:67330808..77589066 [GRCh37]
Chr1:67103396..77361654 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
NM_001902.6(CTH):c.589-3C>T single nucleotide variant Cystathioninuria [RCV000398115] Chr1:70429791 [GRCh38]
Chr1:70895474 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.430G>C (p.Glu144Gln) single nucleotide variant Cystathioninuria [RCV000398183] Chr1:70421649 [GRCh38]
Chr1:70887332 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.495G>T (p.Lys165Asn) single nucleotide variant Cystathioninuria [RCV000302809] Chr1:70424323 [GRCh38]
Chr1:70890006 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.346+7G>A single nucleotide variant Cystathioninuria [RCV000280298]|not provided [RCV000894293] Chr1:70418039 [GRCh38]
Chr1:70883722 [GRCh37]
Chr1:1p31.1
benign|uncertain significance
NM_001902.6(CTH):c.1033G>A (p.Glu345Lys) single nucleotide variant Cystathioninuria [RCV000268858] Chr1:70435158 [GRCh38]
Chr1:70900841 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.1191+15TG[17] microsatellite Cystathioninuria [RCV000369354] Chr1:70438840..70438841 [GRCh38]
Chr1:70904523..70904524 [GRCh37]
Chr1:1p31.1
likely benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001902.6(CTH):c.541G>A (p.Asp181Asn) single nucleotide variant Cystathioninuria [RCV000357640] Chr1:70424369 [GRCh38]
Chr1:70890052 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.864G>A (p.Lys288=) single nucleotide variant Cystathioninuria [RCV000308639]|not provided [RCV000889281] Chr1:70432222 [GRCh38]
Chr1:70897905 [GRCh37]
Chr1:1p31.1
benign|uncertain significance
NM_001902.6(CTH):c.1191+15TG[16] microsatellite Cystathioninuria [RCV000333319] Chr1:70438840..70438841 [GRCh38]
Chr1:70904523..70904524 [GRCh37]
Chr1:1p31.1
likely benign
NM_001902.6(CTH):c.*523A>T single nucleotide variant Cystathioninuria [RCV000284386] Chr1:70439650 [GRCh38]
Chr1:70905333 [GRCh37]
Chr1:1p31.1
benign|likely benign
NM_001902.6(CTH):c.*371G>A single nucleotide variant Cystathioninuria [RCV000285818] Chr1:70439498 [GRCh38]
Chr1:70905181 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*260T>C single nucleotide variant Cystathioninuria [RCV000282360] Chr1:70439387 [GRCh38]
Chr1:70905070 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*632G>A single nucleotide variant Cystathioninuria [RCV000274532] Chr1:70439759 [GRCh38]
Chr1:70905442 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*370C>T single nucleotide variant Cystathioninuria [RCV000373267] Chr1:70439497 [GRCh38]
Chr1:70905180 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*592C>T single nucleotide variant Cystathioninuria [RCV000397245] Chr1:70439719 [GRCh38]
Chr1:70905402 [GRCh37]
Chr1:1p31.1
benign|likely benign
NM_001902.6(CTH):c.*544G>A single nucleotide variant Cystathioninuria [RCV000397269] Chr1:70439671 [GRCh38]
Chr1:70905354 [GRCh37]
Chr1:1p31.1
benign|likely benign
NM_001902.6(CTH):c.*630G>A single nucleotide variant Cystathioninuria [RCV000314916] Chr1:70439757 [GRCh38]
Chr1:70905440 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.-3A>G single nucleotide variant Cystathioninuria [RCV000338903] Chr1:70411413 [GRCh38]
Chr1:70877096 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*389T>C single nucleotide variant Cystathioninuria [RCV000343042] Chr1:70439516 [GRCh38]
Chr1:70905199 [GRCh37]
Chr1:1p31.1
likely benign|uncertain significance
NM_001902.6(CTH):c.-140A>T single nucleotide variant Cystathioninuria [RCV000293248] Chr1:70411276 [GRCh38]
Chr1:70876959 [GRCh37]
Chr1:1p31.1
likely benign
NM_153742.4(CTH):c.-151T>C single nucleotide variant Cystathioninuria [RCV000387430] Chr1:70411265 [GRCh38]
Chr1:70876948 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*631C>T single nucleotide variant Cystathioninuria [RCV000366810] Chr1:70439758 [GRCh38]
Chr1:70905441 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.1191+15TG[18] microsatellite Cystathioninuria [RCV000274203] Chr1:70438840..70438841 [GRCh38]
Chr1:70904523..70904524 [GRCh37]
Chr1:1p31.1
likely benign
NM_001902.6(CTH):c.793C>T (p.Arg265Ter) single nucleotide variant Cystathioninuria [RCV000490299] Chr1:70432151 [GRCh38]
Chr1:70897834 [GRCh37]
Chr1:1p31.1
likely pathogenic
NM_001902.6(CTH):c.*334T>A single nucleotide variant Cystathioninuria [RCV000316280] Chr1:70439461 [GRCh38]
Chr1:70905144 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*527A>T single nucleotide variant Cystathioninuria [RCV000346387] Chr1:70439654 [GRCh38]
Chr1:70905337 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*587G>A single nucleotide variant Cystathioninuria [RCV000363795] Chr1:70439714 [GRCh38]
Chr1:70905397 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*522_*523insTAA insertion Cystathioninuria [RCV000402599] Chr1:70439649..70439650 [GRCh38]
Chr1:70905332..70905333 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*545C>T single nucleotide variant Cystathioninuria [RCV000306802] Chr1:70439672 [GRCh38]
Chr1:70905355 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.381A>G (p.Glu127=) single nucleotide variant Cystathioninuria [RCV000335352] Chr1:70421600 [GRCh38]
Chr1:70887283 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.5(CTH):c.*735G>A single nucleotide variant Cystathioninuria [RCV000369901] Chr1:70439862 [GRCh38]
Chr1:70905545 [GRCh37]
Chr1:1p31.1
likely benign
NM_001902.6(CTH):c.*98G>A single nucleotide variant Cystathioninuria [RCV000374504] Chr1:70439225 [GRCh38]
Chr1:70904908 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1
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 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
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 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.1(chr1:70736553-71030414)x3 copy number gain not provided [RCV000684584] Chr1:70736553..71030414 [GRCh37]
Chr1:1p31.1
likely benign
GRCh37/hg19 1p31.1(chr1:70885420-71331430)x3 copy number gain not provided [RCV000684585] Chr1:70885420..71331430 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
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
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
pathogenic
NM_001902.6(CTH):c.465G>A (p.Trp155Ter) single nucleotide variant Cystathioninuria [RCV000778253] Chr1:70424293 [GRCh38]
Chr1:70889976 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.1052+1G>A single nucleotide variant Cystathioninuria [RCV000778254] Chr1:70435178 [GRCh38]
Chr1:70900861 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.1052+1G>C single nucleotide variant Cystathioninuria [RCV000778255] Chr1:70435178 [GRCh38]
Chr1:70900861 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_001902.6(CTH):c.710G>T (p.Arg237Leu) single nucleotide variant Cystathioninuria [RCV001097218] Chr1:70430380 [GRCh38]
Chr1:70896063 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*693G>T single nucleotide variant Cystathioninuria [RCV001097317] Chr1:70439820 [GRCh38]
Chr1:70905503 [GRCh37]
Chr1:1p31.1
uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2
not provided
NM_001902.6(CTH):c.724+10A>G single nucleotide variant Cystathioninuria [RCV001097219] Chr1:70430404 [GRCh38]
Chr1:70896087 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*681G>A single nucleotide variant Cystathioninuria [RCV001097316] Chr1:70439808 [GRCh38]
Chr1:70905491 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1 copy number loss not provided [RCV000847457] Chr1:66868168..77106425 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3
pathogenic
NM_001902.6(CTH):c.*522T>A single nucleotide variant Cystathioninuria [RCV001100786] Chr1:70439649 [GRCh38]
Chr1:70905332 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*217G>T single nucleotide variant Cystathioninuria [RCV001098977] Chr1:70439344 [GRCh38]
Chr1:70905027 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*336A>G single nucleotide variant Cystathioninuria [RCV001098978] Chr1:70439463 [GRCh38]
Chr1:70905146 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.1(chr1:70121864-70894764)x3 copy number gain not provided [RCV001005104] Chr1:70121864..70894764 [GRCh37]
Chr1:1p31.1
likely benign
GRCh37/hg19 1p31.1(chr1:70727412-71030414)x4 copy number gain not provided [RCV001005105] Chr1:70727412..71030414 [GRCh37]
Chr1:1p31.1
likely benign
NM_001902.6(CTH):c.647-15G>C single nucleotide variant Cystathioninuria [RCV001097216] Chr1:70430302 [GRCh38]
Chr1:70895985 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.794G>T (p.Arg265Leu) single nucleotide variant Cystathioninuria [RCV001097220] Chr1:70432152 [GRCh38]
Chr1:70897835 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*513T>A single nucleotide variant Cystathioninuria [RCV001100785] Chr1:70439640 [GRCh38]
Chr1:70905323 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*546G>A single nucleotide variant Cystathioninuria [RCV001101044] Chr1:70439673 [GRCh38]
Chr1:70905356 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.*588C>T single nucleotide variant Cystathioninuria [RCV001101045] Chr1:70439715 [GRCh38]
Chr1:70905398 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.685T>C (p.Cys229Arg) single nucleotide variant Cystathioninuria [RCV001097217] Chr1:70430355 [GRCh38]
Chr1:70896038 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.816C>T (p.Asn272=) single nucleotide variant Cystathioninuria [RCV001097221] Chr1:70432174 [GRCh38]
Chr1:70897857 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.129G>A (p.Leu43=) single nucleotide variant Cystathioninuria [RCV001100959] Chr1:70411544 [GRCh38]
Chr1:70877227 [GRCh37]
Chr1:1p31.1
likely benign
NM_001902.6(CTH):c.*411G>C single nucleotide variant Cystathioninuria [RCV001100784] Chr1:70439538 [GRCh38]
Chr1:70905221 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.15C>A (p.Asp5Glu) single nucleotide variant Cystathioninuria [RCV001100958] Chr1:70411430 [GRCh38]
Chr1:70877113 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_001902.6(CTH):c.1064del (p.Thr355fs) deletion Cystathioninuria [RCV001335877] Chr1:70438699 [GRCh38]
Chr1:70904382 [GRCh37]
Chr1:1p31.1
pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2501 AgrOrtholog
COSMIC CTH COSMIC
Ensembl Genes ENSG00000116761 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000311554 ENTREZGENE
  ENSP00000311554.2 UniProtKB/Swiss-Prot
  ENSP00000359976 ENTREZGENE
  ENSP00000359976.3 UniProtKB/Swiss-Prot
  ENSP00000413407 ENTREZGENE
  ENSP00000413407.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000346806 ENTREZGENE
  ENST00000346806.2 UniProtKB/Swiss-Prot
  ENST00000370938 ENTREZGENE
  ENST00000370938.8 UniProtKB/Swiss-Prot
  ENST00000411986 ENTREZGENE
  ENST00000411986.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot
  3.90.1150.10 UniProtKB/Swiss-Prot
GTEx ENSG00000116761 GTEx
HGNC ID HGNC:2501 ENTREZGENE
Human Proteome Map CTH Human Proteome Map
InterPro Cys/Met-Metab_PyrdxlP-dep_enz UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot
KEGG Report hsa:1491 UniProtKB/Swiss-Prot
NCBI Gene 1491 ENTREZGENE
OMIM 219500 OMIM
  607657 OMIM
PANTHER PTHR11808 UniProtKB/Swiss-Prot
Pfam Cys_Met_Meta_PP UniProtKB/Swiss-Prot
PharmGKB CTH RGD, PharmGKB
PIRSF CGS UniProtKB/Swiss-Prot
PROSITE CYS_MET_METAB_PP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot
UniProt CGL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9H4W8 ENTREZGENE
UniProt Secondary B4E1R2 UniProtKB/Swiss-Prot
  E9PDV0 UniProtKB/Swiss-Prot
  Q53FB3 UniProtKB/Swiss-Prot
  Q53Y79 UniProtKB/Swiss-Prot
  Q9H4W7 UniProtKB/Swiss-Prot
  Q9H4W8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-01 CTH  cystathionine gamma-lyase    cystathionase (cystathionine gamma-lyase)  Symbol and/or name change 5135510 APPROVED