CAGE1 (cancer antigen 1) - Rat Genome Database

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Gene: CAGE1 (cancer antigen 1) Homo sapiens
Analyze
Symbol: CAGE1
Name: cancer antigen 1
RGD ID: 1604175
HGNC Page HGNC:21622
Description: ASSOCIATED WITH genetic disease; INTERACTS WITH 5-aza-2'-deoxycytidine; CGP 52608; pentanal
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA69L16.7; cancer-associated gene 1 protein; cancer/testis antigen 3; cancer/testis antigen 95; cancer/testis antigen gene 1; CT3; CT95; CTAG3; FLJ40441
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
GRCh3867,326,659 - 7,389,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl67,326,656 - 7,389,742 (-)EnsemblGRCh38hg38GRCh38
GRCh3767,326,892 - 7,389,975 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,271,886 - 7,334,941 (-)NCBINCBI36Build 36hg18NCBI36
Celera68,556,649 - 8,619,686 (-)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,203,216 - 7,267,047 (-)NCBIHuRef
CHM1_167,328,983 - 7,392,053 (-)NCBICHM1_1
T2T-CHM13v2.067,195,720 - 7,258,781 (-)NCBIT2T-CHM13v2.0
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
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12531476   PMID:14574404   PMID:14702039   PMID:15489334   PMID:16964403   PMID:17114284   PMID:17786288   PMID:21516116   PMID:23858473   PMID:24174534   PMID:25416956  
PMID:25910212   PMID:27107014   PMID:31741433   PMID:32296183   PMID:32807901  


Genomics

Comparative Map Data
CAGE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3867,326,659 - 7,389,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl67,326,656 - 7,389,742 (-)EnsemblGRCh38hg38GRCh38
GRCh3767,326,892 - 7,389,975 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,271,886 - 7,334,941 (-)NCBINCBI36Build 36hg18NCBI36
Celera68,556,649 - 8,619,686 (-)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,203,216 - 7,267,047 (-)NCBIHuRef
CHM1_167,328,983 - 7,392,053 (-)NCBICHM1_1
T2T-CHM13v2.067,195,720 - 7,258,781 (-)NCBIT2T-CHM13v2.0
Cage1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391338,190,028 - 38,221,115 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1338,190,028 - 38,221,045 (-)EnsemblGRCm39 Ensembl
GRCm381338,006,052 - 38,037,131 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1338,006,052 - 38,037,069 (-)EnsemblGRCm38mm10GRCm38
MGSCv371338,097,921 - 38,128,806 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361338,013,521 - 38,039,944 (-)NCBIMGSCv36mm8
Celera1339,127,657 - 39,158,544 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1317.88NCBI
Cage1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81726,995,671 - 27,033,740 (+)NCBIGRCr8
mRatBN7.21726,789,975 - 26,828,210 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1726,790,033 - 26,828,204 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1726,648,409 - 26,686,457 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01728,251,984 - 28,290,032 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01726,597,076 - 26,635,089 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01727,452,506 - 27,490,853 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1727,452,638 - 27,490,851 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01729,366,735 - 29,405,096 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41733,017,106 - 33,056,422 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11733,019,946 - 33,059,261 (+)NCBI
Celera1726,421,950 - 26,459,931 (+)NCBICelera
Cytogenetic Map17p12NCBI
Cage1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554656,506,552 - 6,539,079 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554656,506,177 - 6,539,094 (+)NCBIChiLan1.0ChiLan1.0
CAGE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2521,968,056 - 22,031,210 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1617,964,983 - 18,028,176 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v067,166,107 - 7,228,999 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.167,433,201 - 7,496,386 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl67,432,488 - 7,493,384 (-)Ensemblpanpan1.1panPan2
CAGE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,327,865 - 7,355,116 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl357,317,567 - 7,355,026 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,331,146 - 7,358,386 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0357,409,582 - 7,436,825 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1357,262,748 - 7,289,988 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0357,289,661 - 7,316,879 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,622,019 - 8,649,253 (-)NCBIUU_Cfam_GSD_1.0
Cage1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494616,951,355 - 16,992,760 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365345,220,854 - 5,258,272 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365345,220,568 - 5,253,531 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAGE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl74,707,760 - 4,750,673 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.174,692,098 - 4,750,680 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CAGE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11764,805,121 - 64,865,276 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1764,807,607 - 64,865,079 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660447,286,279 - 7,344,805 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cage1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475618,186,385 - 18,216,795 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475618,186,037 - 18,224,782 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAGE1
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
NM_001170692.1(CAGE1):c.2193+1240T>C single nucleotide variant Lung cancer [RCV000097165] Chr6:7364228 [GRCh38]
Chr6:7364461 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.1(CAGE1):c.284-1310G>T single nucleotide variant Lung cancer [RCV000097166] Chr6:7380330 [GRCh38]
Chr6:7380563 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3 copy number gain See cases [RCV000511519] Chr6:7229084..7904034 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001170692.2(CAGE1):c.841C>T (p.Arg281Trp) single nucleotide variant Inborn genetic diseases [RCV003239432] Chr6:7373978 [GRCh38]
Chr6:7374211 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.1346A>C (p.Glu449Ala) single nucleotide variant Inborn genetic diseases [RCV003284883] Chr6:7373473 [GRCh38]
Chr6:7373706 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.876T>A (p.Ser292Arg) single nucleotide variant Inborn genetic diseases [RCV003275927] Chr6:7373943 [GRCh38]
Chr6:7374176 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.1364T>C (p.Leu455Pro) single nucleotide variant Inborn genetic diseases [RCV003279284] Chr6:7373455 [GRCh38]
Chr6:7373688 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.29C>T (p.Ser10Leu) single nucleotide variant Inborn genetic diseases [RCV003279327] Chr6:7387145 [GRCh38]
Chr6:7387378 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3		 likely pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1 copy number loss not provided [RCV000682643] Chr6:6990611..11276452 [GRCh37]
Chr6:6p25.1-24.2		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6815015-7387789)x3 copy number gain not provided [RCV000682642] Chr6:6815015..7387789 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6959468-7476908)x3 copy number gain not provided [RCV000745450] Chr6:6959468..7476908 [GRCh37]
Chr6:6p25.1-24.3		 benign
GRCh37/hg19 6p24.3(chr6:7274354-7370153)x3 copy number gain not provided [RCV000745452] Chr6:7274354..7370153 [GRCh37]
Chr6:6p24.3		 benign
NM_001170692.2(CAGE1):c.178A>T (p.Thr60Ser) single nucleotide variant Inborn genetic diseases [RCV003244806] Chr6:7386996 [GRCh38]
Chr6:7387229 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 copy number loss not provided [RCV001005768] Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3 copy number gain not provided [RCV000849173] Chr6:6846861..7759131 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p24.3(chr6:7198136-7338171)x3 copy number gain not provided [RCV000848356] Chr6:7198136..7338171 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6864042-7437958)x3 copy number gain not provided [RCV000846658] Chr6:6864042..7437958 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6664656-7593975)x3 copy number gain not provided [RCV001005769] Chr6:6664656..7593975 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6959105-7385153)x3 copy number gain not provided [RCV001005770] Chr6:6959105..7385153 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3 copy number gain not provided [RCV001259377] Chr6:6495789..8070987 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6874846-7396438)x3 copy number gain not provided [RCV001258901] Chr6:6874846..7396438 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6854908-7465142)x3 copy number gain See cases [RCV002287574] Chr6:6854908..7465142 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
NM_001170692.2(CAGE1):c.2462C>T (p.Pro821Leu) single nucleotide variant Inborn genetic diseases [RCV002779874] Chr6:7329865 [GRCh38]
Chr6:7330098 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.245G>A (p.Cys82Tyr) single nucleotide variant Inborn genetic diseases [RCV002837122] Chr6:7385823 [GRCh38]
Chr6:7386056 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.683G>C (p.Cys228Ser) single nucleotide variant Inborn genetic diseases [RCV002977977] Chr6:7378621 [GRCh38]
Chr6:7378854 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001170692.2(CAGE1):c.170C>G (p.Thr57Ser) single nucleotide variant Inborn genetic diseases [RCV002738770] Chr6:7387004 [GRCh38]
Chr6:7387237 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001170692.2(CAGE1):c.120T>A (p.Asn40Lys) single nucleotide variant Inborn genetic diseases [RCV002661496] Chr6:7387054 [GRCh38]
Chr6:7387287 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.616A>G (p.Lys206Glu) single nucleotide variant Inborn genetic diseases [RCV002888497] Chr6:7378688 [GRCh38]
Chr6:7378921 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2183T>C (p.Leu728Pro) single nucleotide variant Inborn genetic diseases [RCV002713786] Chr6:7365478 [GRCh38]
Chr6:7365711 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2248A>G (p.Ile750Val) single nucleotide variant Inborn genetic diseases [RCV002763619] Chr6:7356075 [GRCh38]
Chr6:7356308 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.353T>C (p.Leu118Ser) single nucleotide variant Inborn genetic diseases [RCV002764605] Chr6:7378951 [GRCh38]
Chr6:7379184 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2321T>C (p.Ile774Thr) single nucleotide variant Inborn genetic diseases [RCV002955826] Chr6:7355089 [GRCh38]
Chr6:7355322 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2237G>A (p.Cys746Tyr) single nucleotide variant Inborn genetic diseases [RCV002767307] Chr6:7356086 [GRCh38]
Chr6:7356319 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.760G>A (p.Val254Ile) single nucleotide variant Inborn genetic diseases [RCV002900921] Chr6:7374059 [GRCh38]
Chr6:7374292 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2388A>C (p.Lys796Asn) single nucleotide variant Inborn genetic diseases [RCV002673679] Chr6:7334072 [GRCh38]
Chr6:7334305 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.1371A>C (p.Gln457His) single nucleotide variant Inborn genetic diseases [RCV002921343] Chr6:7373448 [GRCh38]
Chr6:7373681 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.859C>T (p.Pro287Ser) single nucleotide variant Inborn genetic diseases [RCV002808398] Chr6:7373960 [GRCh38]
Chr6:7374193 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2472G>C (p.Met824Ile) single nucleotide variant Inborn genetic diseases [RCV002831196] Chr6:7329855 [GRCh38]
Chr6:7330088 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2080A>G (p.Ile694Val) single nucleotide variant Inborn genetic diseases [RCV003010521] Chr6:7365809 [GRCh38]
Chr6:7366042 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.583C>T (p.His195Tyr) single nucleotide variant Inborn genetic diseases [RCV002672616] Chr6:7378721 [GRCh38]
Chr6:7378954 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.2309A>G (p.Tyr770Cys) single nucleotide variant Inborn genetic diseases [RCV003299371] Chr6:7355101 [GRCh38]
Chr6:7355334 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.85A>G (p.Ser29Gly) single nucleotide variant Inborn genetic diseases [RCV003206023] Chr6:7387089 [GRCh38]
Chr6:7387322 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.1033A>C (p.Thr345Pro) single nucleotide variant Inborn genetic diseases [RCV003183964] Chr6:7373786 [GRCh38]
Chr6:7374019 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.1832C>A (p.Ser611Tyr) single nucleotide variant Inborn genetic diseases [RCV003212495] Chr6:7369980 [GRCh38]
Chr6:7370213 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001170692.2(CAGE1):c.51T>A (p.His17Gln) single nucleotide variant Inborn genetic diseases [RCV003216818] Chr6:7387123 [GRCh38]
Chr6:7387356 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:7000220-7328510)x3 copy number gain not provided [RCV003484637] Chr6:7000220..7328510 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:7062951-7341722)x3 copy number gain not provided [RCV003484639] Chr6:7062951..7341722 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
NM_001170692.2(CAGE1):c.1515G>A (p.Leu505=) single nucleotide variant not provided [RCV003436477] Chr6:7373304 [GRCh38]
Chr6:7373537 [GRCh37]
Chr6:6p24.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1444
Count of miRNA genes:622
Interacting mature miRNAs:684
Transcripts:ENST00000296742, ENST00000338150, ENST00000379918, ENST00000442019, ENST00000458291, ENST00000502583, ENST00000509324, ENST00000512086, ENST00000512691
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
RH36530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,337,665 - 7,337,837UniSTSGRCh37
Build 3667,282,664 - 7,282,836RGDNCBI36
Celera68,567,417 - 8,567,589RGD
Cytogenetic Map6p24.3UniSTS
HuRef67,213,983 - 7,214,155UniSTS
GeneMap99-GB4 RH Map637.94UniSTS
D8S1159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,359,963 - 7,360,177UniSTSGRCh37
Build 3667,304,962 - 7,305,176RGDNCBI36
Celera68,589,708 - 8,589,922RGD
Cytogenetic Map6p24.3UniSTS
HuRef67,236,282 - 7,236,496UniSTS


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 254
Low 13 3 18 12 15 13 7 3 2 6 175 38 4 1 2
Below cutoff 1258 1156 1177 321 967 198 2657 867 2052 200 697 1052 131 760 1554 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000296742   ⟹   ENSP00000296742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,326,684 - 7,389,709 (-)Ensembl
RefSeq Acc Id: ENST00000338150   ⟹   ENSP00000338107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,329,097 - 7,389,406 (-)Ensembl
RefSeq Acc Id: ENST00000379918   ⟹   ENSP00000369250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,326,659 - 7,389,402 (-)Ensembl
RefSeq Acc Id: ENST00000442019   ⟹   ENSP00000391746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,326,742 - 7,389,400 (-)Ensembl
RefSeq Acc Id: ENST00000458291   ⟹   ENSP00000390644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,326,656 - 7,389,390 (-)Ensembl
RefSeq Acc Id: ENST00000502583   ⟹   ENSP00000425493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,326,659 - 7,389,742 (-)Ensembl
RefSeq Acc Id: ENST00000509324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,373,953 - 7,389,402 (-)Ensembl
RefSeq Acc Id: ENST00000512086   ⟹   ENSP00000427583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,326,858 - 7,389,402 (-)Ensembl
RefSeq Acc Id: ENST00000512691   ⟹   ENSP00000423789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,373,181 - 7,389,402 (-)Ensembl
RefSeq Acc Id: NM_001170692   ⟹   NP_001164163
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,326,659 - 7,389,742 (-)NCBI
GRCh3767,326,887 - 7,389,976 (-)NCBI
Celera68,556,649 - 8,619,686 (-)RGD
HuRef67,203,216 - 7,267,047 (-)RGD
CHM1_167,328,983 - 7,392,053 (-)NCBI
T2T-CHM13v2.067,195,720 - 7,258,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170693   ⟹   NP_001164164
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,329,096 - 7,389,742 (-)NCBI
GRCh3767,326,887 - 7,389,976 (-)NCBI
Celera68,556,649 - 8,619,686 (-)RGD
HuRef67,203,216 - 7,267,047 (-)RGD
CHM1_167,331,400 - 7,392,053 (-)NCBI
T2T-CHM13v2.067,198,159 - 7,258,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_205864   ⟹   NP_995586
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,326,659 - 7,389,742 (-)NCBI
GRCh3767,326,887 - 7,389,976 (-)NCBI
Build 3667,271,886 - 7,334,941 (-)NCBI Archive
Celera68,556,649 - 8,619,686 (-)RGD
HuRef67,203,216 - 7,267,047 (-)RGD
CHM1_167,328,983 - 7,392,053 (-)NCBI
T2T-CHM13v2.067,195,720 - 7,258,781 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_995586   ⟸   NM_205864
- Peptide Label: isoform 3
- UniProtKB: Q8N7R5 (UniProtKB/Swiss-Prot),   Q86TM4 (UniProtKB/Swiss-Prot),   Q5TAM0 (UniProtKB/Swiss-Prot),   D6RCT9 (UniProtKB/Swiss-Prot),   Q8TC20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164163   ⟸   NM_001170692
- Peptide Label: isoform 1
- UniProtKB: E7EUJ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164164   ⟸   NM_001170693
- Peptide Label: isoform 2
- UniProtKB: Q8N7R5 (UniProtKB/Swiss-Prot),   Q86TM4 (UniProtKB/Swiss-Prot),   Q5TAM0 (UniProtKB/Swiss-Prot),   D6RCT9 (UniProtKB/Swiss-Prot),   Q8TC20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000425493   ⟸   ENST00000502583
RefSeq Acc Id: ENSP00000296742   ⟸   ENST00000296742
RefSeq Acc Id: ENSP00000391746   ⟸   ENST00000442019
RefSeq Acc Id: ENSP00000338107   ⟸   ENST00000338150
RefSeq Acc Id: ENSP00000369250   ⟸   ENST00000379918
RefSeq Acc Id: ENSP00000390644   ⟸   ENST00000458291
RefSeq Acc Id: ENSP00000423789   ⟸   ENST00000512691
RefSeq Acc Id: ENSP00000427583   ⟸   ENST00000512086

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TC20-F1-model_v2 AlphaFold Q8TC20 1-777 view protein structure

Promoters
RGD ID:6804626
Promoter ID:HG_KWN:52247
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001170692,   NM_001170693,   NM_031480,   NM_205864,   OTTHUMT00000039772,   UC003MXI.1,   UC003MXJ.1,   UC003MXL.1,   UC003MXM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3667,334,706 - 7,335,206 (+)MPROMDB
RGD ID:6871970
Promoter ID:EPDNEW_H9149
Type:initiation region
Name:CAGE1_1
Description:cancer antigen 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9151  EPDNEW_H9153  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,339,233 - 7,339,293EPDNEW
RGD ID:6871974
Promoter ID:EPDNEW_H9151
Type:initiation region
Name:CAGE1_2
Description:cancer antigen 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9149  EPDNEW_H9153  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,389,402 - 7,389,462EPDNEW
RGD ID:6871978
Promoter ID:EPDNEW_H9153
Type:initiation region
Name:CAGE1_3
Description:cancer antigen 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9149  EPDNEW_H9151  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,389,740 - 7,389,800EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21622 AgrOrtholog
COSMIC CAGE1 COSMIC
Ensembl Genes ENSG00000164304 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296742 ENTREZGENE
  ENST00000296742.11 UniProtKB/Swiss-Prot
  ENST00000338150 ENTREZGENE
  ENST00000338150.8 UniProtKB/Swiss-Prot
  ENST00000379918.8 UniProtKB/TrEMBL
  ENST00000442019.6 UniProtKB/TrEMBL
  ENST00000458291.6 UniProtKB/Swiss-Prot
  ENST00000502583 ENTREZGENE
  ENST00000502583.6 UniProtKB/Swiss-Prot
  ENST00000512086.5 UniProtKB/Swiss-Prot
  ENST00000512691.1 UniProtKB/TrEMBL
GTEx ENSG00000164304 GTEx
HGNC ID HGNC:21622 ENTREZGENE
Human Proteome Map CAGE1 Human Proteome Map
InterPro CAGE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:285782 UniProtKB/Swiss-Prot
NCBI Gene 285782 ENTREZGENE
OMIM 608304 OMIM
PANTHER CANCER-ASSOCIATED GENE 1 PROTEIN UniProtKB/Swiss-Prot
  CANCER-ASSOCIATED GENE 1 PROTEIN UniProtKB/Swiss-Prot
  CANCER-ASSOCIATED GENE 1 PROTEIN UniProtKB/TrEMBL
  CANCER-ASSOCIATED GENE 1 PROTEIN UniProtKB/TrEMBL
Pfam CAGE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134933951 PharmGKB
UniProt CAGE1_HUMAN UniProtKB/Swiss-Prot
  D6R9A7_HUMAN UniProtKB/TrEMBL
  D6RCC6_HUMAN UniProtKB/TrEMBL
  D6RCT9 ENTREZGENE
  E7EUJ7 ENTREZGENE, UniProtKB/TrEMBL
  Q5TAM0 ENTREZGENE
  Q86TM4 ENTREZGENE
  Q8N7R5 ENTREZGENE
  Q8TC20 ENTREZGENE
UniProt Secondary D6RCT9 UniProtKB/Swiss-Prot
  Q5TAM0 UniProtKB/Swiss-Prot
  Q86TM4 UniProtKB/Swiss-Prot
  Q8N7R5 UniProtKB/Swiss-Prot