GGT5 (gamma-glutamyltransferase 5) - Rat Genome Database

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Gene: GGT5 (gamma-glutamyltransferase 5) Homo sapiens
Analyze
Symbol: GGT5
Name: gamma-glutamyltransferase 5
RGD ID: 733414
HGNC Page HGNC:4260
Description: Enables glutathione hydrolase activity; leukotriene-C(4) hydrolase; and peptidyltransferase activity. Involved in several processes, including carboxylic acid metabolic process; glutathione catabolic process; and proteolysis. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp566O011; FLJ92733; gamma-glutamyl cleaving enzyme; gamma-glutamyl transpeptidase-related enzyme; gamma-glutamyl transpeptidase-related protein; gamma-glutamyltransferase-like activity 1; gamma-glutamyltranspeptidase 5; GGL; GGT 5; GGT-REL; GGTLA1; glutathione hydrolase 5; glutathione hydrolase 5 proenzyme; leukotriene-C4 hydrolase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh382224,219,654 - 24,245,142 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,219,654 - 24,245,108 (-)EnsemblGRCh38hg38GRCh38
GRCh372224,615,622 - 24,641,110 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,945,622 - 22,971,110 (-)NCBINCBI36Build 36hg18NCBI36
Build 342222,940,192 - 22,965,582NCBI
Celera228,416,020 - 8,441,502 (-)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,564,739 - 7,590,237 (-)NCBIHuRef
CHM1_12224,574,371 - 24,599,750 (-)NCBICHM1_1
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBIT2T-CHM13v2.0
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
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

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

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Expression and regulation of gamma-glutamyl transpeptidase-related enzyme in tracheal cells. Potdar PD, etal., Am J Physiol 1997 Nov;273(5 Pt 1):L1082-9.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1676842   PMID:6122208   PMID:8095916   PMID:8125298   PMID:8889548   PMID:10090893   PMID:10591208   PMID:11063908   PMID:12477932   PMID:15461802   PMID:15489334   PMID:18357469  
PMID:21447318   PMID:21873635   PMID:23624525   PMID:24667918   PMID:24847614   PMID:24927181   PMID:25377544   PMID:27436590   PMID:28514442   PMID:30097533   PMID:32640421   PMID:33961781  
PMID:34088745   PMID:34857952  


Genomics

Comparative Map Data
GGT5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,219,654 - 24,245,142 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,219,654 - 24,245,108 (-)EnsemblGRCh38hg38GRCh38
GRCh372224,615,622 - 24,641,110 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,945,622 - 22,971,110 (-)NCBINCBI36Build 36hg18NCBI36
Build 342222,940,192 - 22,965,582NCBI
Celera228,416,020 - 8,441,502 (-)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,564,739 - 7,590,237 (-)NCBIHuRef
CHM1_12224,574,371 - 24,599,750 (-)NCBICHM1_1
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBIT2T-CHM13v2.0
Ggt5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,425,161 - 75,453,034 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1075,425,174 - 75,453,034 (+)EnsemblGRCm39 Ensembl
GRCm381075,589,327 - 75,617,200 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,589,340 - 75,617,200 (+)EnsemblGRCm38mm10GRCm38
MGSCv371075,052,126 - 75,079,713 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361075,033,097 - 75,060,684 (+)NCBIMGSCv36mm8
Celera1076,634,075 - 76,661,662 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.55NCBI
Ggt5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82013,042,694 - 13,070,960 (-)NCBIGRCr8
mRatBN7.22013,043,255 - 13,071,523 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2013,043,257 - 13,071,450 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2013,749,839 - 13,778,030 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02013,110,786 - 13,138,974 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02013,583,284 - 13,611,483 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02013,988,444 - 14,001,296 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02016,178,488 - 16,191,069 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01962,302,144 - 62,302,579 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2014,531,284 - 14,557,667 (-)NCBICelera
Cytogenetic Map20p12NCBI
Ggt5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,102,499 - 8,125,966 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,101,251 - 8,125,597 (+)NCBIChiLan1.0ChiLan1.0
GGT5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22334,004,643 - 34,033,738 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12236,738,366 - 36,767,475 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0225,025,740 - 5,053,074 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12223,110,461 - 23,125,629 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2223,110,780 - 23,125,632 (-)Ensemblpanpan1.1panPan2
GGT5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12628,316,022 - 28,343,928 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2628,317,989 - 28,343,611 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2627,390,911 - 27,419,099 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02629,720,313 - 29,748,512 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12627,804,270 - 27,832,467 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02627,421,067 - 27,449,253 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02628,411,249 - 28,439,354 (+)NCBIUU_Cfam_GSD_1.0
Ggt5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118141,916,314 - 141,959,384 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936619794,889 - 837,736 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936619794,876 - 837,748 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GGT5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1449,640,586 - 49,663,003 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11449,638,184 - 49,663,007 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,080,650 - 53,104,965 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Ggt5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474710,051,553 - 10,071,983 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474710,050,765 - 10,072,255 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GGT5
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
NM_001099781.2(GGT5):c.1095C>T (p.Ile365=) single nucleotide variant Malignant melanoma [RCV000063881] Chr22:24226210 [GRCh38]
Chr22:24622178 [GRCh37]
Chr22:22952178 [NCBI36]
Chr22:22q11.23
not provided
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
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 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 copy number gain See cases [RCV000137178] Chr22:23804407..24669609 [GRCh38]
Chr22:24146594..25065576 [GRCh37]
Chr22:22476594..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23
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 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3 copy number gain See cases [RCV000240545] Chr22:24401196..25010751 [GRCh37]
Chr22:22q11.23
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 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:24640758-24658665)x3 copy number gain See cases [RCV000447168] Chr22:24640758..24658665 [GRCh37]
Chr22:22q11.23
likely benign
GRCh37/hg19 22q11.23(chr22:24640758-24658565)x3 copy number gain See cases [RCV000445664] Chr22:24640758..24658565 [GRCh37]
Chr22:22q11.23
benign|likely benign
GRCh37/hg19 22q11.23(chr22:24622697-24658565)x3 copy number gain See cases [RCV000445993] Chr22:24622697..24658565 [GRCh37]
Chr22:22q11.23
likely benign
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23
likely 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
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23
likely pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 copy number loss See cases [RCV000511065] Chr22:23690387..24666092 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
NM_004121.5(GGT5):c.241G>A (p.Val81Ile) single nucleotide variant Inborn genetic diseases [RCV003279414] Chr22:24233937 [GRCh38]
Chr22:24629905 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1720G>A (p.Val574Ile) single nucleotide variant Inborn genetic diseases [RCV003254503] Chr22:24220011 [GRCh38]
Chr22:24615979 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.466C>T (p.Arg156Cys) single nucleotide variant Inborn genetic diseases [RCV003257219] Chr22:24232953 [GRCh38]
Chr22:24628921 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1666T>G (p.Phe556Val) single nucleotide variant Inborn genetic diseases [RCV003252851] Chr22:24220065 [GRCh38]
Chr22:24616033 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.568C>T (p.Arg190Trp) single nucleotide variant Inborn genetic diseases [RCV003247598] Chr22:24232851 [GRCh38]
Chr22:24628819 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.220G>A (p.Ala74Thr) single nucleotide variant Inborn genetic diseases [RCV003240541] Chr22:24233958 [GRCh38]
Chr22:24629926 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.454C>G (p.Arg152Gly) single nucleotide variant Inborn genetic diseases [RCV003275897] Chr22:24232965 [GRCh38]
Chr22:24628933 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.76G>T (p.Ala26Ser) single nucleotide variant Inborn genetic diseases [RCV003268907] Chr22:24244650 [GRCh38]
Chr22:24640618 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1202T>G (p.Val401Gly) single nucleotide variant Inborn genetic diseases [RCV003249883] Chr22:24226103 [GRCh38]
Chr22:24622071 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
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 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23
likely 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 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 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23
likely pathogenic
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001031059] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_24129357)_(24836024_?)del deletion not provided [RCV001031302] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
pathogenic
NM_004121.5(GGT5):c.711G>A (p.Thr237=) single nucleotide variant not provided [RCV000896083] Chr22:24232094 [GRCh38]
Chr22:24628062 [GRCh37]
Chr22:22q11.23
benign
NM_004121.5(GGT5):c.1310G>A (p.Arg437Gln) single nucleotide variant not provided [RCV000881688] Chr22:24225572 [GRCh38]
Chr22:24621540 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23
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
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23
pathogenic
NM_004121.5(GGT5):c.1604A>G (p.Asn535Ser) single nucleotide variant Inborn genetic diseases [RCV003288824] Chr22:24225006 [GRCh38]
Chr22:24620974 [GRCh37]
Chr22:22q11.23
likely benign
NM_004121.5(GGT5):c.612C>A (p.Asn204Lys) single nucleotide variant Inborn genetic diseases [RCV003251489] Chr22:24232193 [GRCh38]
Chr22:24628161 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
NM_004121.5(GGT5):c.400+5C>A single nucleotide variant not provided [RCV000888265] Chr22:24233493 [GRCh38]
Chr22:24629461 [GRCh37]
Chr22:22q11.23
benign
NM_004121.5(GGT5):c.1149C>T (p.Gly383=) single nucleotide variant not provided [RCV000958180] Chr22:24226156 [GRCh38]
Chr22:24622124 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3 copy number gain not provided [RCV002473884] Chr22:23650872..25002483 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 copy number gain See cases [RCV001007417] Chr22:24311474..26075188 [GRCh37]
Chr22:22q11.23-12.1
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23
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
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001324555] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23915453)_(24921762_?)dup duplication not provided [RCV003120543] Chr22:23915453..24921762 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3 copy number gain not provided [RCV001795844] Chr22:23689960..25000632 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280733] Chr22:21798906..25039018 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3 copy number gain Unilateral renal agenesis [RCV002282735] Chr22:23652519..25059631 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 copy number gain not provided [RCV002474578] Chr22:22953515..24995256 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3 copy number gain not provided [RCV002472515] Chr22:23650201..24992266 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3 copy number gain not provided [RCV002473547] Chr22:22997929..24995256 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3 copy number gain not provided [RCV002473740] Chr22:24402263..25447775 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.622C>A (p.Pro208Thr) single nucleotide variant Inborn genetic diseases [RCV002902628] Chr22:24232183 [GRCh38]
Chr22:24628151 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1085G>A (p.Arg362His) single nucleotide variant Inborn genetic diseases [RCV002727533]|not provided [RCV003434604] Chr22:24226220 [GRCh38]
Chr22:24622188 [GRCh37]
Chr22:22q11.23
likely benign|uncertain significance
NM_004121.5(GGT5):c.1402C>T (p.Pro468Ser) single nucleotide variant Inborn genetic diseases [RCV002682717] Chr22:24225346 [GRCh38]
Chr22:24621314 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1152C>G (p.His384Gln) single nucleotide variant Inborn genetic diseases [RCV002859314] Chr22:24226153 [GRCh38]
Chr22:24622121 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.218C>T (p.Ala73Val) single nucleotide variant Inborn genetic diseases [RCV002845707] Chr22:24233960 [GRCh38]
Chr22:24629928 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.851C>T (p.Pro284Leu) single nucleotide variant Inborn genetic diseases [RCV002981715] Chr22:24231434 [GRCh38]
Chr22:24627402 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.217G>A (p.Ala73Thr) single nucleotide variant Inborn genetic diseases [RCV002822729] Chr22:24233961 [GRCh38]
Chr22:24629929 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.458G>A (p.Arg153His) single nucleotide variant Inborn genetic diseases [RCV002887963] Chr22:24232961 [GRCh38]
Chr22:24628929 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1005G>T (p.Arg335Ser) single nucleotide variant Inborn genetic diseases [RCV002737263] Chr22:24226664 [GRCh38]
Chr22:24622632 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1504G>A (p.Ala502Thr) single nucleotide variant Inborn genetic diseases [RCV002888882] Chr22:24225106 [GRCh38]
Chr22:24621074 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.697G>A (p.Glu233Lys) single nucleotide variant Inborn genetic diseases [RCV002699077] Chr22:24232108 [GRCh38]
Chr22:24628076 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.595C>T (p.Arg199Cys) single nucleotide variant Inborn genetic diseases [RCV002965967] Chr22:24232824 [GRCh38]
Chr22:24628792 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.55G>A (p.Ala19Thr) single nucleotide variant Inborn genetic diseases [RCV002747838] Chr22:24244671 [GRCh38]
Chr22:24640639 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.673G>A (p.Glu225Lys) single nucleotide variant Inborn genetic diseases [RCV002919798] Chr22:24232132 [GRCh38]
Chr22:24628100 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1397G>A (p.Arg466His) single nucleotide variant Inborn genetic diseases [RCV002719712] Chr22:24225351 [GRCh38]
Chr22:24621319 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.445G>A (p.Glu149Lys) single nucleotide variant Inborn genetic diseases [RCV002769915] Chr22:24232974 [GRCh38]
Chr22:24628942 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.992G>C (p.Gly331Ala) single nucleotide variant Inborn genetic diseases [RCV002900691] Chr22:24226677 [GRCh38]
Chr22:24622645 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1004G>A (p.Arg335Lys) single nucleotide variant Inborn genetic diseases [RCV002812423] Chr22:24226665 [GRCh38]
Chr22:24622633 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1085G>T (p.Arg362Leu) single nucleotide variant Inborn genetic diseases [RCV002935672] Chr22:24226220 [GRCh38]
Chr22:24622188 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1163C>T (p.Thr388Met) single nucleotide variant Inborn genetic diseases [RCV003190072] Chr22:24226142 [GRCh38]
Chr22:24622110 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1541G>A (p.Arg514Lys) single nucleotide variant Inborn genetic diseases [RCV003209059] Chr22:24225069 [GRCh38]
Chr22:24621037 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.767C>T (p.Thr256Met) single nucleotide variant Inborn genetic diseases [RCV003174734] Chr22:24231518 [GRCh38]
Chr22:24627486 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV003329499] Chr22:23658260..25114888 [GRCh37]
Chr22:22q11.23
pathogenic
NM_004121.5(GGT5):c.796G>A (p.Glu266Lys) single nucleotide variant Inborn genetic diseases [RCV003338290] Chr22:24231489 [GRCh38]
Chr22:24627457 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1297G>A (p.Glu433Lys) single nucleotide variant Inborn genetic diseases [RCV003350169] Chr22:24225585 [GRCh38]
Chr22:24621553 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1555G>A (p.Ala519Thr) single nucleotide variant Inborn genetic diseases [RCV003366915] Chr22:24225055 [GRCh38]
Chr22:24621023 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.606C>G (p.Phe202Leu) single nucleotide variant Inborn genetic diseases [RCV003364485] Chr22:24232199 [GRCh38]
Chr22:24628167 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.145G>A (p.Asp49Asn) single nucleotide variant Inborn genetic diseases [RCV003356007] Chr22:24244581 [GRCh38]
Chr22:24640549 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.1748C>T (p.Ala583Val) single nucleotide variant Inborn genetic diseases [RCV003374535] Chr22:24219983 [GRCh38]
Chr22:24615951 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.530C>A (p.Ala177Asp) single nucleotide variant Inborn genetic diseases [RCV003354418] Chr22:24232889 [GRCh38]
Chr22:24628857 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.235A>G (p.Ser79Gly) single nucleotide variant Inborn genetic diseases [RCV003355058] Chr22:24233943 [GRCh38]
Chr22:24629911 [GRCh37]
Chr22:22q11.23
likely benign
GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3 copy number gain not provided [RCV003485241] Chr22:23690388..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 copy number gain not provided [RCV003457365] Chr22:22989453..25019883 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
NM_004121.5(GGT5):c.1352T>G (p.Val451Gly) single nucleotide variant not provided [RCV003437528] Chr22:24225396 [GRCh38]
Chr22:24621364 [GRCh37]
Chr22:22q11.23
likely benign
NM_004121.5(GGT5):c.1164G>A (p.Thr388=) single nucleotide variant not provided [RCV003437529] Chr22:24226141 [GRCh38]
Chr22:24622109 [GRCh37]
Chr22:22q11.23
likely benign
NM_004121.5(GGT5):c.1578C>G (p.Ser526Arg) single nucleotide variant Inborn genetic diseases [RCV003357884] Chr22:24225032 [GRCh38]
Chr22:24621000 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_004121.5(GGT5):c.257T>C (p.Met86Thr) single nucleotide variant Inborn genetic diseases [RCV003356938] Chr22:24233921 [GRCh38]
Chr22:24629889 [GRCh37]
Chr22:22q11.23
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2138
Count of miRNA genes:537
Interacting mature miRNAs:620
Transcripts:ENST00000263112, ENST00000327365, ENST00000398292, ENST00000418439, ENST00000424217, ENST00000425408
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.

Markers in Region
SHGC-170347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,618,397 - 24,618,678UniSTSGRCh37
Build 362222,948,397 - 22,948,678RGDNCBI36
Celera228,418,795 - 8,419,076RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,567,517 - 7,567,798UniSTS
TNG Radiation Hybrid Map223276.0UniSTS
D22S1236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,615,714 - 24,615,821UniSTSGRCh37
Build 362222,945,714 - 22,945,821RGDNCBI36
Celera228,416,112 - 8,416,219RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,564,834 - 7,564,941UniSTS
GeneMap99-G3 RH Map22380.0UniSTS


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 2192 2143 1597 507 527 354 3656 1699 2340 271 1084 1367 154 1204 2402
Low 128 429 109 108 459 101 461 456 1325 115 292 110 9 386 1
Below cutoff 88 409 15 6 658 8 212 35 40 29 61 117 7 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001099781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI581436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU728951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX403504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX425817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT841518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000263112   ⟹   ENSP00000263112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,219,654 - 24,245,078 (-)Ensembl
RefSeq Acc Id: ENST00000327365   ⟹   ENSP00000330080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,219,660 - 24,245,082 (-)Ensembl
RefSeq Acc Id: ENST00000398292   ⟹   ENSP00000381340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,219,660 - 24,245,059 (-)Ensembl
RefSeq Acc Id: ENST00000424217   ⟹   ENSP00000412964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,232,973 - 24,245,082 (-)Ensembl
RefSeq Acc Id: ENST00000425408   ⟹   ENSP00000402917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,219,660 - 24,226,112 (-)Ensembl
RefSeq Acc Id: ENST00000623756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,241,089 - 24,245,108 (-)Ensembl
RefSeq Acc Id: NM_001099781   ⟹   NP_001093251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
GRCh372224,615,622 - 24,641,317 (-)NCBI
Build 362222,945,622 - 22,971,110 (-)NCBI Archive
HuRef227,564,739 - 7,590,237 (-)ENTREZGENE
CHM1_12224,574,371 - 24,599,750 (-)NCBI
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001099782   ⟹   NP_001093252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
GRCh372224,615,622 - 24,641,317 (-)NCBI
Build 362222,945,622 - 22,971,110 (-)NCBI Archive
HuRef227,564,739 - 7,590,237 (-)ENTREZGENE
CHM1_12224,574,371 - 24,599,750 (-)NCBI
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302464   ⟹   NP_001289393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
CHM1_12224,574,371 - 24,599,750 (-)NCBI
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302465   ⟹   NP_001289394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
CHM1_12224,574,371 - 24,599,750 (-)NCBI
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004121   ⟹   NP_004112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,660 - 24,245,082 (-)NCBI
GRCh372224,615,622 - 24,641,317 (-)NCBI
Build 362222,945,622 - 22,971,110 (-)NCBI Archive
HuRef227,564,739 - 7,590,237 (-)ENTREZGENE
CHM1_12224,574,371 - 24,599,750 (-)NCBI
T2T-CHM13v2.02224,681,274 - 24,706,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261557   ⟹   XP_005261614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
GRCh372224,615,622 - 24,641,317 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261558   ⟹   XP_005261615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
GRCh372224,615,622 - 24,641,317 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530133   ⟹   XP_011528435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530134   ⟹   XP_011528436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530135   ⟹   XP_011528437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530136   ⟹   XP_011528438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530137   ⟹   XP_011528439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,828 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028768   ⟹   XP_016884257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028769   ⟹   XP_016884258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,654 - 24,245,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441328   ⟹   XP_047297284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,660 - 24,245,142 (-)NCBI
RefSeq Acc Id: XM_047441329   ⟹   XP_047297285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,660 - 24,245,142 (-)NCBI
RefSeq Acc Id: XM_047441330   ⟹   XP_047297286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,660 - 24,245,142 (-)NCBI
RefSeq Acc Id: XM_047441331   ⟹   XP_047297287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,219,660 - 24,245,142 (-)NCBI
RefSeq Acc Id: XM_054325527   ⟹   XP_054181502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325528   ⟹   XP_054181503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325529   ⟹   XP_054181504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325530   ⟹   XP_054181505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325531   ⟹   XP_054181506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325532   ⟹   XP_054181507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325533   ⟹   XP_054181508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,274 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325534   ⟹   XP_054181509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325535   ⟹   XP_054181510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,274 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325536   ⟹   XP_054181511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,268 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325537   ⟹   XP_054181512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,442 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325538   ⟹   XP_054181513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,274 - 24,706,753 (-)NCBI
RefSeq Acc Id: XM_054325539   ⟹   XP_054181514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,681,274 - 24,706,753 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001093251 (Get FASTA)   NCBI Sequence Viewer  
  NP_001093252 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289393 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289394 (Get FASTA)   NCBI Sequence Viewer  
  NP_004112 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261614 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261615 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528435 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528436 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528437 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528438 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528439 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884257 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884258 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297284 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297285 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297286 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181502 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181503 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181504 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181505 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181506 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181507 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181508 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181509 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181510 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181511 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181512 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181513 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181514 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA58503 (Get FASTA)   NCBI Sequence Viewer  
  AAH11362 (Get FASTA)   NCBI Sequence Viewer  
  AAH73999 (Get FASTA)   NCBI Sequence Viewer  
  AAP88810 (Get FASTA)   NCBI Sequence Viewer  
  BAF84695 (Get FASTA)   NCBI Sequence Viewer  
  BAG57124 (Get FASTA)   NCBI Sequence Viewer  
  BAG60196 (Get FASTA)   NCBI Sequence Viewer  
  BAG65326 (Get FASTA)   NCBI Sequence Viewer  
  CAB55910 (Get FASTA)   NCBI Sequence Viewer  
  CAJ86448 (Get FASTA)   NCBI Sequence Viewer  
  EAW59643 (Get FASTA)   NCBI Sequence Viewer  
  EAW59644 (Get FASTA)   NCBI Sequence Viewer  
  EAW59645 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263112
  ENSP00000263112.7
  ENSP00000330080
  ENSP00000330080.4
  ENSP00000381340
  ENSP00000381340.3
  ENSP00000402917.1
  ENSP00000412964.1
GenBank Protein P36269 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001093252   ⟸   NM_001099782
- Peptide Label: isoform 3
- UniProtKB: B4DEL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004112   ⟸   NM_004121
- Peptide Label: isoform 2
- UniProtKB: Q96FC1 (UniProtKB/Swiss-Prot),   Q6GMP0 (UniProtKB/Swiss-Prot),   Q53XM9 (UniProtKB/Swiss-Prot),   Q9UFM5 (UniProtKB/Swiss-Prot),   P36269 (UniProtKB/Swiss-Prot),   B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001093251   ⟸   NM_001099781
- Peptide Label: isoform 1
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261615   ⟸   XM_005261558
- Peptide Label: isoform X3
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261614   ⟸   XM_005261557
- Peptide Label: isoform X2
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289394   ⟸   NM_001302465
- Peptide Label: isoform 5
- UniProtKB: B4DEL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289393   ⟸   NM_001302464
- Peptide Label: isoform 4
- UniProtKB: P36269 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528437   ⟸   XM_011530135
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011528436   ⟸   XM_011530134
- Peptide Label: isoform X4
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528435   ⟸   XM_011530133
- Peptide Label: isoform X1
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528438   ⟸   XM_011530136
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011528439   ⟸   XM_011530137
- Peptide Label: isoform X11
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884257   ⟸   XM_017028768
- Peptide Label: isoform X6
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884258   ⟸   XM_017028769
- Peptide Label: isoform X10
- UniProtKB: B4DEL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381340   ⟸   ENST00000398292
RefSeq Acc Id: ENSP00000412964   ⟸   ENST00000424217
RefSeq Acc Id: ENSP00000402917   ⟸   ENST00000425408
RefSeq Acc Id: ENSP00000330080   ⟸   ENST00000327365
RefSeq Acc Id: ENSP00000263112   ⟸   ENST00000263112
RefSeq Acc Id: XP_047297287   ⟸   XM_047441331
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047297286   ⟸   XM_047441330
- Peptide Label: isoform X12
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297284   ⟸   XM_047441328
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047297285   ⟸   XM_047441329
- Peptide Label: isoform X9
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181507   ⟸   XM_054325532
- Peptide Label: isoform X6
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181511   ⟸   XM_054325536
- Peptide Label: isoform X10
- UniProtKB: B4DEL3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181506   ⟸   XM_054325531
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181504   ⟸   XM_054325529
- Peptide Label: isoform X3
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181503   ⟸   XM_054325528
- Peptide Label: isoform X2
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181505   ⟸   XM_054325530
- Peptide Label: isoform X4
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181502   ⟸   XM_054325527
- Peptide Label: isoform X1
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181509   ⟸   XM_054325534
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181514   ⟸   XM_054325539
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054181513   ⟸   XM_054325538
- Peptide Label: isoform X12
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181508   ⟸   XM_054325533
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054181510   ⟸   XM_054325535
- Peptide Label: isoform X9
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181512   ⟸   XM_054325537
- Peptide Label: isoform X11
- UniProtKB: B4DND4 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P36269-F1-model_v2 AlphaFold P36269 1-586 view protein structure

Promoters
RGD ID:13603476
Promoter ID:EPDNEW_H27922
Type:initiation region
Name:GGT5_1
Description:gamma-glutamyltransferase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,245,082 - 24,245,142EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4260 AgrOrtholog
COSMIC GGT5 COSMIC
Ensembl Genes ENSG00000099998 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263112 ENTREZGENE
  ENST00000263112.11 UniProtKB/Swiss-Prot
  ENST00000327365 ENTREZGENE
  ENST00000327365.10 UniProtKB/Swiss-Prot
  ENST00000398292 ENTREZGENE
  ENST00000398292.3 UniProtKB/Swiss-Prot
  ENST00000424217.1 UniProtKB/TrEMBL
  ENST00000425408.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.246.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.20.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099998 GTEx
HGNC ID HGNC:4260 ENTREZGENE
Human Proteome Map GGT5 Human Proteome Map
InterPro GGT_lsub_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GGT_peptidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GGT_ssub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2687 UniProtKB/Swiss-Prot
NCBI Gene 2687 ENTREZGENE
OMIM 137168 OMIM
PANTHER GAMMA GLUTAMYL TRANSPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUTATHIONE HYDROLASE 5 PROENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45027:SF2 UniProtKB/TrEMBL
  PUTATIVE GLUTATHIONE HYDROLASE LIGHT CHAIN UniProtKB/TrEMBL
Pfam G_glu_transpept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162389442 PharmGKB
PRINTS GGTRANSPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_GLU_TRANSPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DEL3 ENTREZGENE, UniProtKB/TrEMBL
  B4DND4 ENTREZGENE, UniProtKB/TrEMBL
  C9JU68_HUMAN UniProtKB/TrEMBL
  GGT5_HUMAN UniProtKB/Swiss-Prot
  H7C1X2_HUMAN UniProtKB/TrEMBL
  P36269 ENTREZGENE
  Q53XM9 ENTREZGENE
  Q6GMP0 ENTREZGENE
  Q96FC1 ENTREZGENE
  Q9UFM5 ENTREZGENE
UniProt Secondary Q53XM9 UniProtKB/Swiss-Prot
  Q6GMP0 UniProtKB/Swiss-Prot
  Q96FC1 UniProtKB/Swiss-Prot
  Q9UFM5 UniProtKB/Swiss-Prot