AGTPBP1 (ATP/GTP binding carboxypeptidase 1) - Rat Genome Database

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Gene: AGTPBP1 (ATP/GTP binding carboxypeptidase 1) Homo sapiens
Analyze
Symbol: AGTPBP1
Name: ATP/GTP binding carboxypeptidase 1
RGD ID: 1314853
HGNC Page HGNC:17258
Description: Enables metallocarboxypeptidase activity. Involved in C-terminal protein deglutamylation and protein side chain deglutamylation. Located in cytoplasm and nucleolus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AL353743.2; ATP/GTP binding protein 1; ATP/GTP-binding protein 1; carboxypeptidase-tubulin; CCP1; CONDCA; cytosolic carboxypeptidase 1; DKFZp686M20191; KIAA1035; LOC102724057; nervous system nuclear protein induced by axotomy; nervous system nuclear protein induced by axotomy protein 1 homolog; NNA1; soluble carboxypeptidase; tubulinyl-Tyr carboxypeptidase; tyrosine carboxypeptidase; uncharacterized LOC102724057
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38985,546,539 - 85,805,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl985,546,539 - 85,742,029 (-)EnsemblGRCh38hg38GRCh38
GRCh37988,161,454 - 88,356,944 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36987,351,275 - 87,546,709 (-)NCBINCBI36Build 36hg18NCBI36
Build 34985,391,008 - 85,586,443NCBI
Celera958,731,693 - 58,927,167 (-)NCBICelera
Cytogenetic Map9q21.33NCBI
HuRef957,985,670 - 58,181,366 (-)NCBIHuRef
CHM1_1988,308,168 - 88,503,654 (-)NCBICHM1_1
T2T-CHM13v2.0997,697,026 - 97,955,976 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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:10470851   PMID:11083920   PMID:11884758   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15302935   PMID:15385968   PMID:16344560   PMID:16713569   PMID:17043677   PMID:21873635  
PMID:22170066   PMID:23085998   PMID:23242554   PMID:23414517   PMID:25381060   PMID:25609649   PMID:25659891   PMID:25798074   PMID:26186194   PMID:26638075   PMID:26673895   PMID:27880917  
PMID:28065597   PMID:28190767   PMID:28514442   PMID:29348145   PMID:29511261   PMID:29576527   PMID:30021884   PMID:30420557   PMID:30976113   PMID:31343991   PMID:31753913   PMID:32807901  
PMID:33909173   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34637898   PMID:34672954   PMID:35271311   PMID:35439318   PMID:35914814   PMID:35915203   PMID:35944360   PMID:35973513  
PMID:36215168   PMID:36232890   PMID:36244648   PMID:37071682   PMID:37267103   PMID:37689310   PMID:37827155   PMID:37937809   PMID:39129004  


Genomics

Comparative Map Data
AGTPBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38985,546,539 - 85,805,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl985,546,539 - 85,742,029 (-)EnsemblGRCh38hg38GRCh38
GRCh37988,161,454 - 88,356,944 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36987,351,275 - 87,546,709 (-)NCBINCBI36Build 36hg18NCBI36
Build 34985,391,008 - 85,586,443NCBI
Celera958,731,693 - 58,927,167 (-)NCBICelera
Cytogenetic Map9q21.33NCBI
HuRef957,985,670 - 58,181,366 (-)NCBIHuRef
CHM1_1988,308,168 - 88,503,654 (-)NCBICHM1_1
T2T-CHM13v2.0997,697,026 - 97,955,976 (-)NCBIT2T-CHM13v2.0
Agtpbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391359,597,348 - 59,705,184 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1359,593,556 - 59,733,041 (-)EnsemblGRCm39 Ensembl
GRCm381359,449,534 - 59,557,370 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1359,445,742 - 59,585,227 (-)EnsemblGRCm38mm10GRCm38
MGSCv371359,550,896 - 59,658,680 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361359,459,518 - 59,566,909 (-)NCBIMGSCv36mm8
Celera1360,505,890 - 60,600,548 (-)NCBICelera
Cytogenetic Map13B2NCBI
cM Map1337.0NCBI
Agtpbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8175,092,108 - 5,244,414 (+)NCBIGRCr8
mRatBN7.2175,120,540 - 5,238,874 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl175,120,609 - 5,238,869 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx175,153,873 - 5,264,101 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0176,694,971 - 6,799,992 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0175,150,307 - 5,260,529 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0175,510,009 - 5,614,416 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl175,511,385 - 5,614,435 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0177,722,385 - 7,837,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41711,040,339 - 11,155,923 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11711,063,063 - 11,155,645 (+)NCBI
Celera175,254,268 - 5,358,824 (+)NCBICelera
Cytogenetic Map17p14NCBI
Agtpbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554321,628,913 - 1,818,454 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554321,628,966 - 1,816,373 (+)NCBIChiLan1.0ChiLan1.0
AGTPBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21184,681,031 - 84,876,912 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1984,686,971 - 84,882,852 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0939,161,182 - 39,357,043 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1984,871,571 - 85,049,056 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl984,871,450 - 85,037,897 (-)Ensemblpanpan1.1panPan2
AGTPBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1173,853,491 - 74,030,075 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl173,887,934 - 74,107,312 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha174,616,116 - 74,795,461 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0174,158,469 - 74,338,565 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl174,158,416 - 74,336,496 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1173,967,595 - 74,147,352 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0173,736,759 - 73,916,152 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0174,439,370 - 74,619,422 (+)NCBIUU_Cfam_GSD_1.0
Agtpbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947120,497,104 - 120,673,188 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366801,065,937 - 1,240,875 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366801,065,375 - 1,240,909 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGTPBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1029,440,145 - 29,590,454 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11029,440,150 - 29,590,457 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21033,515,965 - 33,666,698 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGTPBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11296,342,193 - 96,534,981 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1296,342,759 - 96,534,800 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603884,694,874 - 84,887,676 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agtpbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248099,119,951 - 9,339,604 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248099,119,412 - 9,321,226 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGTPBP1
95 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_015239.2(AGTPBP1):c.2308C>T (p.His770Tyr) single nucleotide variant Malignant melanoma [RCV000068726] Chr9:85592700 [GRCh38]
Chr9:88207615 [GRCh37]
Chr9:87397435 [NCBI36]
Chr9:9q21.33		 not provided
NM_015239.2(AGTPBP1):c.2862C>T (p.Tyr954=) single nucleotide variant Malignant melanoma [RCV000061966] Chr9:85586882 [GRCh38]
Chr9:88201797 [GRCh37]
Chr9:87391617 [NCBI36]
Chr9:9q21.33		 not provided
NM_001286715.1(AGTPBP1):c.3660-10980A>G single nucleotide variant Lung cancer [RCV000108455] Chr9:85558266 [GRCh38]
Chr9:88173181 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001286715.1(AGTPBP1):c.2171+4479G>A single nucleotide variant Lung cancer [RCV000108456] Chr9:85628183 [GRCh38]
Chr9:88243098 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001286715.1(AGTPBP1):c.1244-687G>A single nucleotide variant Lung cancer [RCV000108457] Chr9:85647105 [GRCh38]
Chr9:88262020 [GRCh37]
Chr9:9q21.33		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.33(chr9:84837661-85740938)x3 copy number gain See cases [RCV000137177] Chr9:84837661..85740938 [GRCh38]
Chr9:87452576..88355853 [GRCh37]
Chr9:86642396..87545673 [NCBI36]
Chr9:9q21.33		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1 copy number loss See cases [RCV000139131] Chr9:84861055..86784049 [GRCh38]
Chr9:87475970..89398964 [GRCh37]
Chr9:86665790..88588784 [NCBI36]
Chr9:9q21.33		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.33(chr9:84837563-85740812)x3 copy number gain See cases [RCV000139509] Chr9:84837563..85740812 [GRCh38]
Chr9:87452478..88355727 [GRCh37]
Chr9:86642298..87545547 [NCBI36]
Chr9:9q21.33		 uncertain significance
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.33(chr9:85169032-85669572)x3 copy number gain See cases [RCV000143147] Chr9:85169032..85669572 [GRCh38]
Chr9:87783947..88284487 [GRCh37]
Chr9:86973767..87474307 [NCBI36]
Chr9:9q21.33		 uncertain significance
GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3 copy number gain See cases [RCV000143535] Chr9:84797249..85664850 [GRCh38]
Chr9:87412164..88279765 [GRCh37]
Chr9:86601984..87469585 [NCBI36]
Chr9:9q21.33		 uncertain significance|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330701.2(AGTPBP1):c.2336-1G>T single nucleotide variant AGTPBP1-related disorder [RCV000625986]|Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735994] Chr9:85596450 [GRCh38]
Chr9:88211365 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.2752C>T (p.Arg918Trp) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000736000]|not provided [RCV004719975] Chr9:85588449 [GRCh38]
Chr9:88203364 [GRCh37]
Chr9:9q21.33		 pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330701.2(AGTPBP1):c.410C>A (p.Ser137Tyr) single nucleotide variant not provided [RCV000509215] Chr9:85677462 [GRCh38]
Chr9:88292377 [GRCh37]
Chr9:9q21.33		 not provided
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) deletion AGTPBP1-related disorder [RCV000625987]|Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735995] Chr9:85588465 [GRCh38]
Chr9:88203380 [GRCh37]
Chr9:9q21.33		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330701.2(AGTPBP1):c.2566C>T (p.Gln856Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735996] Chr9:85592562 [GRCh38]
Chr9:88207477 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.2552C>T (p.Thr851Met) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735997] Chr9:85592576 [GRCh38]
Chr9:88207491 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.2362C>T (p.Gln788Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735999]|Neurodevelopmental disorder with cerebellar atrophy and with or without seizures [RCV001254700] Chr9:85596423 [GRCh38]
Chr9:88211338 [GRCh37]
Chr9:9q21.33		 pathogenic|likely pathogenic
NM_001330701.2(AGTPBP1):c.2969A>T (p.His990Leu) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735998] Chr9:85586895 [GRCh38]
Chr9:88201810 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.2080T>G (p.Tyr694Asp) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000736001] Chr9:85621221 [GRCh38]
Chr9:88236136 [GRCh37]
Chr9:9q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.33(chr9:88277116-88460986)x3 copy number gain not provided [RCV000748502] Chr9:88277116..88460986 [GRCh37]
Chr9:9q21.33		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330701.2(AGTPBP1):c.-66del deletion Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003136108]|not provided [RCV001567100] Chr9:85741807 [GRCh38]
Chr9:88356722 [GRCh37]
Chr9:9q21.33		 likely pathogenic|uncertain significance
NM_001330701.2(AGTPBP1):c.2072G>A (p.Arg691His) single nucleotide variant Inborn genetic diseases [RCV003267668] Chr9:85621229 [GRCh38]
Chr9:88236144 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2195A>G (p.Tyr732Cys) single nucleotide variant Global developmental delay [RCV000767881] Chr9:85619123 [GRCh38]
Chr9:88234038 [GRCh37]
Chr9:9q21.33		 likely pathogenic
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
NM_001330701.2(AGTPBP1):c.2186+2T>G single nucleotide variant Global developmental delay [RCV000767880] Chr9:85619213 [GRCh38]
Chr9:88234128 [GRCh37]
Chr9:9q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330701.2(AGTPBP1):c.2842C>T (p.Arg948Ter) single nucleotide variant Global developmental delay [RCV000786855]|not provided [RCV004721580] Chr9:85588359 [GRCh38]
Chr9:88203274 [GRCh37]
Chr9:9q21.33		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.33(chr9:88272435-88377423)x3 copy number gain not provided [RCV000846855] Chr9:88272435..88377423 [GRCh37]
Chr9:9q21.33		 uncertain significance
GRCh37/hg19 9q21.32-21.33(chr9:86434567-88413614)x3 copy number gain not provided [RCV000846141] Chr9:86434567..88413614 [GRCh37]
Chr9:9q21.32-21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1182del (p.Phe394fs) deletion not provided [RCV003237234] Chr9:85646324 [GRCh38]
Chr9:88261239 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.-87T>C single nucleotide variant AGTPBP1-related disorder [RCV003976101]|not provided [RCV001720997] Chr9:85741828 [GRCh38]
Chr9:88356743 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and with or without seizures [RCV001254701] Chr9:85596390 [GRCh38]
Chr9:88211305 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs) deletion Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001265647] Chr9:85657523..85657524 [GRCh38]
Chr9:88272438..88272439 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001263149] Chr9:85642889 [GRCh38]
Chr9:88257804 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001263150] Chr9:85596389 [GRCh38]
Chr9:88211304 [GRCh37]
Chr9:9q21.33		 likely pathogenic
GRCh37/hg19 9q21.33(chr9:88201316-88224515)x1 copy number loss See cases [RCV001263057] Chr9:88201316..88224515 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.437-3C>A single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330543] Chr9:85672684 [GRCh38]
Chr9:88287599 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330541] Chr9:85633071 [GRCh38]
Chr9:88247986 [GRCh37]
Chr9:9q21.33		 likely pathogenic
NM_001286715.1(AGTPBP1):c.11_26dup (p.Ser9fs) duplication not provided [RCV001280746] Chr9:85741936..85741937 [GRCh38]
Chr9:88356851..88356852 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330542] Chr9:85588358 [GRCh38]
Chr9:88203273 [GRCh37]
Chr9:9q21.33		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_001330701.2(AGTPBP1):c.2481T>A (p.Tyr827Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001785898] Chr9:85592647 [GRCh38]
Chr9:88207562 [GRCh37]
Chr9:9q21.33		 likely pathogenic
NM_001330701.2(AGTPBP1):c.-88_-87delinsTC indel not provided [RCV001767375] Chr9:85741828..85741829 [GRCh38]
Chr9:88356743..88356744 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.-206G>A single nucleotide variant not provided [RCV001763354] Chr9:85741947 [GRCh38]
Chr9:88356862 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3527A>G (p.Glu1176Gly) single nucleotide variant Inborn genetic diseases [RCV003163852]|not provided [RCV001763353] Chr9:85547263 [GRCh38]
Chr9:88162178 [GRCh37]
Chr9:9q21.33		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.33(chr9:87881345-88749247) copy number gain not specified [RCV002052819] Chr9:87881345..88749247 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.-87T>G single nucleotide variant not provided [RCV003236990] Chr9:85741828 [GRCh38]
Chr9:88356743 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.457G>A (p.Ala153Thr) single nucleotide variant not provided [RCV003236995] Chr9:85672661 [GRCh38]
Chr9:88287576 [GRCh37]
Chr9:9q21.33		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_001330701.2(AGTPBP1):c.2422A>G (p.Lys808Glu) single nucleotide variant Inborn genetic diseases [RCV003285374] Chr9:85596363 [GRCh38]
Chr9:88211278 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1360G>A (p.Gly454Ser) single nucleotide variant Inborn genetic diseases [RCV002682996] Chr9:85633317 [GRCh38]
Chr9:88248232 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1607G>A (p.Arg536Gln) single nucleotide variant Inborn genetic diseases [RCV002880166] Chr9:85633070 [GRCh38]
Chr9:88247985 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3176A>G (p.Lys1059Arg) single nucleotide variant Inborn genetic diseases [RCV002727679] Chr9:85579086 [GRCh38]
Chr9:88194001 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1077A>C (p.Leu359Phe) single nucleotide variant Inborn genetic diseases [RCV002793406] Chr9:85655153 [GRCh38]
Chr9:88270068 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3337T>G (p.Tyr1113Asp) single nucleotide variant Inborn genetic diseases [RCV002779118] Chr9:85578925 [GRCh38]
Chr9:88193840 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2824C>T (p.Pro942Ser) single nucleotide variant Inborn genetic diseases [RCV002991303] Chr9:85588377 [GRCh38]
Chr9:88203292 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2147T>A (p.Phe716Tyr) single nucleotide variant Inborn genetic diseases [RCV002817802] Chr9:85619254 [GRCh38]
Chr9:88234169 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.394A>G (p.Met132Val) single nucleotide variant Inborn genetic diseases [RCV002997149] Chr9:85677478 [GRCh38]
Chr9:88292393 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3375G>C (p.Glu1125Asp) single nucleotide variant Inborn genetic diseases [RCV002865385] Chr9:85575443 [GRCh38]
Chr9:88190358 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.443A>C (p.Lys148Thr) single nucleotide variant Inborn genetic diseases [RCV002849371] Chr9:85672675 [GRCh38]
Chr9:88287590 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1880C>G (p.Pro627Arg) single nucleotide variant Inborn genetic diseases [RCV002884245] Chr9:85632797 [GRCh38]
Chr9:88247712 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.38C>T (p.Thr13Ile) single nucleotide variant Inborn genetic diseases [RCV002692379] Chr9:85692808 [GRCh38]
Chr9:88307723 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1364C>G (p.Pro455Arg) single nucleotide variant Inborn genetic diseases [RCV002868275] Chr9:85633313 [GRCh38]
Chr9:88248228 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.397G>A (p.Val133Ile) single nucleotide variant Inborn genetic diseases [RCV003001540] Chr9:85677475 [GRCh38]
Chr9:88292390 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.3256C>T (p.Arg1086Cys) single nucleotide variant Inborn genetic diseases [RCV002916420] Chr9:85579006 [GRCh38]
Chr9:88193921 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2694_2695insTAT (p.Ser898_Asn899insTyr) insertion Inborn genetic diseases [RCV002708533] Chr9:85589555..85589556 [GRCh38]
Chr9:88204470..88204471 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.812G>T (p.Gly271Val) single nucleotide variant Inborn genetic diseases [RCV002854128] Chr9:85657532 [GRCh38]
Chr9:88272447 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.275A>G (p.Glu92Gly) single nucleotide variant Inborn genetic diseases [RCV002929328] Chr9:85678349 [GRCh38]
Chr9:88293264 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1558A>G (p.Ile520Val) single nucleotide variant Inborn genetic diseases [RCV002874918] Chr9:85633119 [GRCh38]
Chr9:88248034 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1846G>A (p.Val616Ile) single nucleotide variant Inborn genetic diseases [RCV002697122] Chr9:85632831 [GRCh38]
Chr9:88247746 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3670T>G (p.Tyr1224Asp) single nucleotide variant Inborn genetic diseases [RCV002930009] Chr9:85547120 [GRCh38]
Chr9:88162035 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.304G>A (p.Val102Met) single nucleotide variant Inborn genetic diseases [RCV002769479] Chr9:85677568 [GRCh38]
Chr9:88292483 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1201A>G (p.Thr401Ala) single nucleotide variant Inborn genetic diseases [RCV002855510] Chr9:85642928 [GRCh38]
Chr9:88257843 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2359G>A (p.Val787Ile) single nucleotide variant Inborn genetic diseases [RCV002677799] Chr9:85596426 [GRCh38]
Chr9:88211341 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2833C>T (p.Gln945Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003154310] Chr9:85588368 [GRCh38]
Chr9:88203283 [GRCh37]
Chr9:9q21.33		 likely pathogenic
NM_001330701.2(AGTPBP1):c.-34+1G>A single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003145835] Chr9:85741774 [GRCh38]
Chr9:88356689 [GRCh37]
Chr9:9q21.33		 likely pathogenic
NM_001330701.2(AGTPBP1):c.2433C>A (p.Phe811Leu) single nucleotide variant Inborn genetic diseases [RCV003178271] Chr9:85592695 [GRCh38]
Chr9:88207610 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3640G>A (p.Val1214Ile) single nucleotide variant Inborn genetic diseases [RCV003214290] Chr9:85547150 [GRCh38]
Chr9:88162065 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2738T>A (p.Val913Asp) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003141263] Chr9:85588463 [GRCh38]
Chr9:88203378 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3206G>T (p.Cys1069Phe) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003141264] Chr9:85579056 [GRCh38]
Chr9:88193971 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.910-1G>A single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003324719] Chr9:85655321 [GRCh38]
Chr9:88270236 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.1096G>A (p.Val366Ile) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003340738] Chr9:85646410 [GRCh38]
Chr9:88261325 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2164C>T (p.Arg722Cys) single nucleotide variant Inborn genetic diseases [RCV003351199] Chr9:85619237 [GRCh38]
Chr9:88234152 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3639A>C (p.Glu1213Asp) single nucleotide variant AGTPBP1-related disorder [RCV003939035]|not provided [RCV003430119] Chr9:85547151 [GRCh38]
Chr9:88162066 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.2016-2A>G single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003493222] Chr9:85621287 [GRCh38]
Chr9:88236202 [GRCh37]
Chr9:9q21.33		 likely pathogenic
NM_001330701.2(AGTPBP1):c.2186+10T>G single nucleotide variant AGTPBP1-related disorder [RCV003939571] Chr9:85619205 [GRCh38]
Chr9:88234120 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.1353A>G (p.Lys451=) single nucleotide variant AGTPBP1-related disorder [RCV003972169] Chr9:85633324 [GRCh38]
Chr9:88248239 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.3385A>G (p.Lys1129Glu) single nucleotide variant AGTPBP1-related disorder [RCV003971385] Chr9:85575433 [GRCh38]
Chr9:88190348 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.3252A>G (p.Thr1084=) single nucleotide variant AGTPBP1-related disorder [RCV003957198] Chr9:85579010 [GRCh38]
Chr9:88193925 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.393A>G (p.Leu131=) single nucleotide variant AGTPBP1-related disorder [RCV003979263] Chr9:85677479 [GRCh38]
Chr9:88292394 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.1947C>T (p.Pro649=) single nucleotide variant AGTPBP1-related disorder [RCV003927210] Chr9:85632730 [GRCh38]
Chr9:88247645 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.662+8A>G single nucleotide variant AGTPBP1-related disorder [RCV003922035] Chr9:85669477 [GRCh38]
Chr9:88284392 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.927G>A (p.Arg309=) single nucleotide variant AGTPBP1-related disorder [RCV003934217] Chr9:85655303 [GRCh38]
Chr9:88270218 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.918G>A (p.Leu306=) single nucleotide variant AGTPBP1-related disorder [RCV003924055] Chr9:85655312 [GRCh38]
Chr9:88270227 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.3013G>A (p.Ala1005Thr) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV003990869] Chr9:85586851 [GRCh38]
Chr9:88201766 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.-179GCC[4] microsatellite AGTPBP1-related disorder [RCV003979141] Chr9:85741906..85741908 [GRCh38]
Chr9:88356821..88356823 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.1373T>C (p.Val458Ala) single nucleotide variant Inborn genetic diseases [RCV004387078] Chr9:85633304 [GRCh38]
Chr9:88248219 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2276G>A (p.Gly759Asp) single nucleotide variant Inborn genetic diseases [RCV004387121] Chr9:85619042 [GRCh38]
Chr9:88233957 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2908C>T (p.Arg970Cys) single nucleotide variant Inborn genetic diseases [RCV004387145] Chr9:85586956 [GRCh38]
Chr9:88201871 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3236A>G (p.Lys1079Arg) single nucleotide variant Inborn genetic diseases [RCV004387154] Chr9:85579026 [GRCh38]
Chr9:88193941 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3355G>A (p.Gly1119Ser) single nucleotide variant Inborn genetic diseases [RCV004387162] Chr9:85575463 [GRCh38]
Chr9:88190378 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.445T>C (p.Phe149Leu) single nucleotide variant Inborn genetic diseases [RCV004387188] Chr9:85672673 [GRCh38]
Chr9:88287588 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.785G>A (p.Arg262Gln) single nucleotide variant Inborn genetic diseases [RCV004387198] Chr9:85657559 [GRCh38]
Chr9:88272474 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1478C>T (p.Thr493Ile) single nucleotide variant Inborn genetic diseases [RCV004387085] Chr9:85633199 [GRCh38]
Chr9:88248114 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1379C>T (p.Thr460Met) single nucleotide variant Inborn genetic diseases [RCV004387083] Chr9:85633298 [GRCh38]
Chr9:88248213 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1877A>T (p.Asp626Val) single nucleotide variant Inborn genetic diseases [RCV004387099] Chr9:85632800 [GRCh38]
Chr9:88247715 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1907A>G (p.Asn636Ser) single nucleotide variant Inborn genetic diseases [RCV004387105] Chr9:85632770 [GRCh38]
Chr9:88247685 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.106G>A (p.Asp36Asn) single nucleotide variant Inborn genetic diseases [RCV004387068] Chr9:85692740 [GRCh38]
Chr9:88307655 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1643C>T (p.Pro548Leu) single nucleotide variant Inborn genetic diseases [RCV004387094] Chr9:85633034 [GRCh38]
Chr9:88247949 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2252T>G (p.Phe751Cys) single nucleotide variant Inborn genetic diseases [RCV004387118] Chr9:85619066 [GRCh38]
Chr9:88233981 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.2516A>G (p.Asp839Gly) single nucleotide variant Inborn genetic diseases [RCV004387132] Chr9:85592612 [GRCh38]
Chr9:88207527 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3589A>G (p.Ile1197Val) single nucleotide variant Inborn genetic diseases [RCV004387171] Chr9:85547201 [GRCh38]
Chr9:88162116 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.510G>T (p.Leu170Phe) single nucleotide variant Inborn genetic diseases [RCV004387193] Chr9:85672608 [GRCh38]
Chr9:88287523 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1382C>G (p.Ala461Gly) single nucleotide variant Inborn genetic diseases [RCV004622772] Chr9:85633295 [GRCh38]
Chr9:88248210 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.1307A>G (p.Tyr436Cys) single nucleotide variant Inborn genetic diseases [RCV004622781] Chr9:85633370 [GRCh38]
Chr9:88248285 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.547T>G (p.Leu183Val) single nucleotide variant Inborn genetic diseases [RCV004622788] Chr9:85672571 [GRCh38]
Chr9:88287486 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3659T>C (p.Leu1220Ser) single nucleotide variant Inborn genetic diseases [RCV004622796] Chr9:85547131 [GRCh38]
Chr9:88162046 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.-185_-184insTCCAGCGCCGCCGCC insertion Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV004698721] Chr9:85741925..85741926 [GRCh38]
Chr9:88356840..88356841 [GRCh37]
Chr9:9q21.33		 benign
NM_001330701.2(AGTPBP1):c.2466G>A (p.Lys822=) single nucleotide variant not provided [RCV004722545] Chr9:85592662 [GRCh38]
Chr9:88207577 [GRCh37]
Chr9:9q21.33		 likely benign
NM_001330701.2(AGTPBP1):c.988C>T (p.Arg330Ter) single nucleotide variant not provided [RCV004721924] Chr9:85655242 [GRCh38]
Chr9:88270157 [GRCh37]
Chr9:9q21.33		 pathogenic
NM_001330701.2(AGTPBP1):c.1705A>G (p.Lys569Glu) single nucleotide variant not provided [RCV004769873] Chr9:85632972 [GRCh38]
Chr9:88247887 [GRCh37]
Chr9:9q21.33		 uncertain significance
NM_001330701.2(AGTPBP1):c.3504-1G>T single nucleotide variant not provided [RCV004764172]   likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2118
Count of miRNA genes:896
Interacting mature miRNAs:1035
Transcripts:ENST00000337006, ENST00000357081, ENST00000376080, ENST00000376081, ENST00000376083, ENST00000376109, ENST00000432218, ENST00000489265, ENST00000491784
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406901456GWAS550432_Hbreast carcinoma QTL GWAS550432 (human)0.000006breast carcinoma98566471385664714Human
407299429GWAS948405_Hcolorectal cancer QTL GWAS948405 (human)0.0000008colorectal cancer98565860385658604Human
406914619GWAS563595_Hfacial pigmentation measurement QTL GWAS563595 (human)0.000009facial pigmentation measurement98573344385733444Human
407400098GWAS1049074_Hviral load QTL GWAS1049074 (human)1e-15viral load98580084585800846Human

Markers in Region
D9S1865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,254,199 - 88,254,348UniSTSGRCh37
Build 36987,444,019 - 87,444,168RGDNCBI36
Celera958,824,418 - 58,824,569RGD
Cytogenetic Map9q21.33UniSTS
HuRef958,078,492 - 58,078,643UniSTS
Marshfield Genetic Map987.29RGD
Marshfield Genetic Map987.29UniSTS
Genethon Genetic Map986.6UniSTS
Whitehead-YAC Contig Map9 UniSTS
RH65354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,226,182 - 88,226,357UniSTSGRCh37
Build 36987,416,002 - 87,416,177RGDNCBI36
Celera958,796,407 - 58,796,582RGD
Cytogenetic Map9q21.33UniSTS
HuRef958,050,483 - 58,050,658UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
NCBI RH Map9748.3UniSTS
RH11900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,881 - 88,162,036UniSTSGRCh37
Build 36987,351,701 - 87,351,856RGDNCBI36
Celera958,732,120 - 58,732,275RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,986,097 - 57,986,252UniSTS
GeneMap99-GB4 RH Map9276.42UniSTS
RH99172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,513 - 88,161,667UniSTSGRCh37
Build 36987,351,333 - 87,351,487RGDNCBI36
Celera958,731,752 - 58,731,906RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,985,729 - 57,985,883UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
D9S1067E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,168,327 - 88,168,429UniSTSGRCh37
Build 36987,358,147 - 87,358,249RGDNCBI36
Celera958,738,566 - 58,738,668RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,992,543 - 57,992,645UniSTS
G20277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,166,676 - 88,166,783UniSTSGRCh37
Build 36987,356,496 - 87,356,603RGDNCBI36
Celera958,736,915 - 58,737,022RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,990,892 - 57,990,999UniSTS
A005K03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,166,676 - 88,166,783UniSTSGRCh37
Build 36987,356,496 - 87,356,603RGDNCBI36
Celera958,736,915 - 58,737,022RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,990,892 - 57,990,999UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
NCBI RH Map9748.3UniSTS
D9S1981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,166,602 - 88,166,886UniSTSGRCh37
Build 36987,356,422 - 87,356,706RGDNCBI36
Celera958,736,841 - 58,737,125RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,990,818 - 57,991,102UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
Whitehead-RH Map9318.3UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9748.3UniSTS
D9S954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,438 - 88,161,545UniSTSGRCh37
Build 36987,351,258 - 87,351,365RGDNCBI36
Celera958,731,677 - 58,731,784RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,985,654 - 57,985,761UniSTS
Whitehead-YAC Contig Map9 UniSTS
A006N11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,168,507 - 88,168,613UniSTSGRCh37
Build 36987,358,327 - 87,358,433RGDNCBI36
Celera958,738,746 - 58,738,852RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,992,723 - 57,992,829UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
NCBI RH Map9748.3UniSTS
AGTPBP1__4266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,410 - 88,162,165UniSTSGRCh37
Build 36987,351,230 - 87,351,985RGDNCBI36
Celera958,731,649 - 58,732,404RGD
HuRef957,985,626 - 57,986,381UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ437018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA449535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN354118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN354120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA326833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000337006   ⟹   ENSP00000338512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,546,540 - 85,742,029 (-)Ensembl
Ensembl Acc Id: ENST00000357081   ⟹   ENSP00000349592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,546,539 - 85,741,954 (-)Ensembl
Ensembl Acc Id: ENST00000376080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,657,454 - 85,692,780 (-)Ensembl
Ensembl Acc Id: ENST00000376081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,655,216 - 85,741,888 (-)Ensembl
Ensembl Acc Id: ENST00000376083   ⟹   ENSP00000365251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,546,539 - 85,741,818 (-)Ensembl
Ensembl Acc Id: ENST00000418478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,722 - 85,791,539 (-)Ensembl
Ensembl Acc Id: ENST00000439544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,997 - 85,793,555 (-)Ensembl
Ensembl Acc Id: ENST00000443630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,997 - 85,793,569 (-)Ensembl
Ensembl Acc Id: ENST00000447148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,756,042 - 85,765,112 (-)Ensembl
Ensembl Acc Id: ENST00000456242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,786,529 (-)Ensembl
Ensembl Acc Id: ENST00000489265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,553,873 - 85,579,025 (-)Ensembl
Ensembl Acc Id: ENST00000491784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,657,438 - 85,692,792 (-)Ensembl
Ensembl Acc Id: ENST00000628899   ⟹   ENSP00000487074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,546,671 - 85,742,029 (-)Ensembl
Ensembl Acc Id: ENST00000653610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,955 - 85,793,587 (-)Ensembl
Ensembl Acc Id: ENST00000653820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,793,561 (-)Ensembl
Ensembl Acc Id: ENST00000655407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,801,347 - 85,804,831 (-)Ensembl
Ensembl Acc Id: ENST00000655578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,994 - 85,793,570 (-)Ensembl
Ensembl Acc Id: ENST00000656046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,005 - 85,804,048 (-)Ensembl
Ensembl Acc Id: ENST00000657057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,075 - 85,793,531 (-)Ensembl
Ensembl Acc Id: ENST00000657430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,783,668 - 85,805,087 (-)Ensembl
Ensembl Acc Id: ENST00000657835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,011 - 85,793,531 (-)Ensembl
Ensembl Acc Id: ENST00000658640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,154 (-)Ensembl
Ensembl Acc Id: ENST00000659440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,803,591 (-)Ensembl
Ensembl Acc Id: ENST00000661241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,019 - 85,805,070 (-)Ensembl
Ensembl Acc Id: ENST00000662218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,804,964 (-)Ensembl
Ensembl Acc Id: ENST00000662476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,084 (-)Ensembl
Ensembl Acc Id: ENST00000662541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,994 - 85,804,036 (-)Ensembl
Ensembl Acc Id: ENST00000662699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,793,555 (-)Ensembl
Ensembl Acc Id: ENST00000663552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,054 (-)Ensembl
Ensembl Acc Id: ENST00000665115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,804,732 (-)Ensembl
Ensembl Acc Id: ENST00000665236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,790,220 - 85,805,087 (-)Ensembl
Ensembl Acc Id: ENST00000665432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,783,752 - 85,805,072 (-)Ensembl
Ensembl Acc Id: ENST00000665605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,998 - 85,804,847 (-)Ensembl
Ensembl Acc Id: ENST00000666824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,000 - 85,805,066 (-)Ensembl
Ensembl Acc Id: ENST00000667142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,005 - 85,803,386 (-)Ensembl
Ensembl Acc Id: ENST00000669324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,994 - 85,793,587 (-)Ensembl
Ensembl Acc Id: ENST00000670006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,994 - 85,793,569 (-)Ensembl
Ensembl Acc Id: ENST00000721997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,756,051 - 85,793,563 (-)Ensembl
Ensembl Acc Id: ENST00000721998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,756,051 - 85,793,561 (-)Ensembl
Ensembl Acc Id: ENST00000721999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,756,051 - 85,793,531 (-)Ensembl
Ensembl Acc Id: ENST00000722000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,007 - 85,805,907 (-)Ensembl
Ensembl Acc Id: ENST00000722001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,516 (-)Ensembl
Ensembl Acc Id: ENST00000722002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,457 (-)Ensembl
Ensembl Acc Id: ENST00000722003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,403 (-)Ensembl
Ensembl Acc Id: ENST00000722004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,388 (-)Ensembl
Ensembl Acc Id: ENST00000722005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,075 - 85,805,411 (-)Ensembl
Ensembl Acc Id: ENST00000722006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,794 - 85,805,095 (-)Ensembl
Ensembl Acc Id: ENST00000722007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,209 (-)Ensembl
Ensembl Acc Id: ENST00000722008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,953 - 85,805,094 (-)Ensembl
Ensembl Acc Id: ENST00000722009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,996 - 85,805,128 (-)Ensembl
Ensembl Acc Id: ENST00000722010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,001 - 85,805,118 (-)Ensembl
Ensembl Acc Id: ENST00000722011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,999 - 85,805,096 (-)Ensembl
Ensembl Acc Id: ENST00000722012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,096 (-)Ensembl
Ensembl Acc Id: ENST00000722013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,094 (-)Ensembl
Ensembl Acc Id: ENST00000722014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,087 (-)Ensembl
Ensembl Acc Id: ENST00000722015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,001 - 85,805,084 (-)Ensembl
Ensembl Acc Id: ENST00000722016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,001 - 85,805,082 (-)Ensembl
Ensembl Acc Id: ENST00000722017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,805,081 (-)Ensembl
Ensembl Acc Id: ENST00000722018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,804,952 (-)Ensembl
Ensembl Acc Id: ENST00000722019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,794,478 - 85,805,158 (-)Ensembl
Ensembl Acc Id: ENST00000722020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,794,478 - 85,805,094 (-)Ensembl
Ensembl Acc Id: ENST00000722021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,794,478 - 85,805,081 (-)Ensembl
Ensembl Acc Id: ENST00000722022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,792 - 85,793,536 (-)Ensembl
Ensembl Acc Id: ENST00000722023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,797,497 - 85,805,206 (-)Ensembl
Ensembl Acc Id: ENST00000722024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,793,579 (-)Ensembl
Ensembl Acc Id: ENST00000722025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,997 - 85,793,563 (-)Ensembl
Ensembl Acc Id: ENST00000722026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,785,997 - 85,793,563 (-)Ensembl
Ensembl Acc Id: ENST00000722027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,793,552 (-)Ensembl
Ensembl Acc Id: ENST00000722028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,793,550 (-)Ensembl
Ensembl Acc Id: ENST00000722029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,786,003 - 85,793,539 (-)Ensembl
Ensembl Acc Id: ENST00000722030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl985,802,585 - 85,805,076 (-)Ensembl
RefSeq Acc Id: NM_001286715   ⟹   NP_001273644
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,742,029 (-)NCBI
HuRef957,985,670 - 58,181,366 (-)NCBI
CHM1_1988,308,168 - 88,503,654 (-)NCBI
T2T-CHM13v2.0997,697,026 - 97,892,526 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286717   ⟹   NP_001273646
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,742,029 (-)NCBI
HuRef957,985,670 - 58,181,366 (-)NCBI
CHM1_1988,308,168 - 88,503,654 (-)NCBI
T2T-CHM13v2.0997,697,026 - 97,892,526 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330701   ⟹   NP_001317630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,954 (-)NCBI
T2T-CHM13v2.0997,697,026 - 97,892,451 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015239   ⟹   NP_056054
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,954 (-)NCBI
GRCh37988,161,454 - 88,356,944 (-)RGD
Build 36987,351,275 - 87,546,709 (-)NCBI Archive
Celera958,731,693 - 58,927,167 (-)RGD
HuRef957,985,670 - 58,181,366 (-)RGD
CHM1_1988,308,168 - 88,503,654 (-)NCBI
T2T-CHM13v2.0997,697,026 - 97,892,451 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251848   ⟹   XP_005251905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,954 (-)NCBI
GRCh37988,161,454 - 88,356,944 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518418   ⟹   XP_011516720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,682 - 85,741,954 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518420   ⟹   XP_011516722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,655,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518421   ⟹   XP_011516723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,621,202 - 85,741,954 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014545   ⟹   XP_016870034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,682 - 85,741,954 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423086   ⟹   XP_047279042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,198 (-)NCBI
RefSeq Acc Id: XM_047423087   ⟹   XP_047279043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,198 (-)NCBI
RefSeq Acc Id: XM_047423088   ⟹   XP_047279044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,198 (-)NCBI
RefSeq Acc Id: XM_047423089   ⟹   XP_047279045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,198 (-)NCBI
RefSeq Acc Id: XM_047423090   ⟹   XP_047279046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,198 (-)NCBI
RefSeq Acc Id: XM_047423091   ⟹   XP_047279047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,188 (-)NCBI
RefSeq Acc Id: XM_047423092   ⟹   XP_047279048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,188 (-)NCBI
RefSeq Acc Id: XM_047423093   ⟹   XP_047279049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,188 (-)NCBI
RefSeq Acc Id: XM_047423094   ⟹   XP_047279050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,805,483 (-)NCBI
RefSeq Acc Id: XM_047423095   ⟹   XP_047279051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,726,082 (-)NCBI
RefSeq Acc Id: XM_047423096   ⟹   XP_047279052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,724,893 (-)NCBI
RefSeq Acc Id: XM_047423097   ⟹   XP_047279053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,652 (-)NCBI
RefSeq Acc Id: XM_047423098   ⟹   XP_047279054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,682 - 85,724,893 (-)NCBI
RefSeq Acc Id: XM_047423099   ⟹   XP_047279055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,692,813 (-)NCBI
RefSeq Acc Id: XM_047423100   ⟹   XP_047279056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,692,813 (-)NCBI
RefSeq Acc Id: XM_047423101   ⟹   XP_047279057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,586,837 - 85,741,954 (-)NCBI
RefSeq Acc Id: XM_054362514   ⟹   XP_054218489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,892,434 (-)NCBI
RefSeq Acc Id: XM_054362515   ⟹   XP_054218490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,954,997 (-)NCBI
RefSeq Acc Id: XM_054362516   ⟹   XP_054218491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,954,997 (-)NCBI
RefSeq Acc Id: XM_054362517   ⟹   XP_054218492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,954,997 (-)NCBI
RefSeq Acc Id: XM_054362518   ⟹   XP_054218493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,954,997 (-)NCBI
RefSeq Acc Id: XM_054362519   ⟹   XP_054218494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,955,612 (-)NCBI
RefSeq Acc Id: XM_054362520   ⟹   XP_054218495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,955,612 (-)NCBI
RefSeq Acc Id: XM_054362521   ⟹   XP_054218496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,955,612 (-)NCBI
RefSeq Acc Id: XM_054362522   ⟹   XP_054218497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,955,976 (-)NCBI
RefSeq Acc Id: XM_054362523   ⟹   XP_054218498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,876,577 (-)NCBI
RefSeq Acc Id: XM_054362524   ⟹   XP_054218499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,875,388 (-)NCBI
RefSeq Acc Id: XM_054362525   ⟹   XP_054218500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,892,149 (-)NCBI
RefSeq Acc Id: XM_054362526   ⟹   XP_054218501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,803 - 97,892,451 (-)NCBI
RefSeq Acc Id: XM_054362527   ⟹   XP_054218502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,803 - 97,875,388 (-)NCBI
RefSeq Acc Id: XM_054362528   ⟹   XP_054218503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,803 - 97,892,451 (-)NCBI
RefSeq Acc Id: XM_054362529   ⟹   XP_054218504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,843,304 (-)NCBI
RefSeq Acc Id: XM_054362530   ⟹   XP_054218505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,843,304 (-)NCBI
RefSeq Acc Id: XM_054362531   ⟹   XP_054218506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,737,326 - 97,892,451 (-)NCBI
RefSeq Acc Id: XM_054362532   ⟹   XP_054218507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,697,026 - 97,805,625 (-)NCBI
RefSeq Acc Id: XM_054362533   ⟹   XP_054218508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0997,771,689 - 97,892,451 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001273644 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273646 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317630 (Get FASTA)   NCBI Sequence Viewer  
  NP_056054 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251905 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516720 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516722 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516723 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870034 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279042 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279043 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279044 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279045 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279046 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279047 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279048 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279049 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279050 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279051 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279052 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279053 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279054 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279055 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279056 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218489 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218491 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218492 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218495 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218497 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218498 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218499 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218500 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218501 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218502 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218503 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218504 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218505 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218506 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218507 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218508 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH60815 (Get FASTA)   NCBI Sequence Viewer  
  BAA82987 (Get FASTA)   NCBI Sequence Viewer  
  BAA91749 (Get FASTA)   NCBI Sequence Viewer  
  BAB14100 (Get FASTA)   NCBI Sequence Viewer  
  BAB14505 (Get FASTA)   NCBI Sequence Viewer  
  BAG58284 (Get FASTA)   NCBI Sequence Viewer  
  BAG58598 (Get FASTA)   NCBI Sequence Viewer  
  BAG61460 (Get FASTA)   NCBI Sequence Viewer  
  CAD24587 (Get FASTA)   NCBI Sequence Viewer  
  CAH56158 (Get FASTA)   NCBI Sequence Viewer  
  CAH56222 (Get FASTA)   NCBI Sequence Viewer  
  EAW62694 (Get FASTA)   NCBI Sequence Viewer  
  EAW62695 (Get FASTA)   NCBI Sequence Viewer  
  EAW62696 (Get FASTA)   NCBI Sequence Viewer  
  EAW62697 (Get FASTA)   NCBI Sequence Viewer  
  EAW62698 (Get FASTA)   NCBI Sequence Viewer  
  EAW62699 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000338512
  ENSP00000338512.5
  ENSP00000349592
  ENSP00000349592.3
  ENSP00000365251
  ENSP00000365251.3
  ENSP00000487074
  ENSP00000487074.1
GenBank Protein Q9UPW5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056054   ⟸   NM_015239
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: XP_005251905   ⟸   XM_005251848
- Peptide Label: isoform X1
- UniProtKB: Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot),   Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273646   ⟸   NM_001286717
- Peptide Label: isoform c
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273644   ⟸   NM_001286715
- Peptide Label: isoform a
- UniProtKB: J3KNS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516722   ⟸   XM_011518420
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011516720   ⟸   XM_011518418
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011516723   ⟸   XM_011518421
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016870034   ⟸   XM_017014545
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001317630   ⟸   NM_001330701
- Peptide Label: isoform d
- UniProtKB: Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot),   Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000365251   ⟸   ENST00000376083
Ensembl Acc Id: ENSP00000338512   ⟸   ENST00000337006
Ensembl Acc Id: ENSP00000487074   ⟸   ENST00000628899
Ensembl Acc Id: ENSP00000349592   ⟸   ENST00000357081
RefSeq Acc Id: XP_047279050   ⟸   XM_047423094
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279046   ⟸   XM_047423090
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279045   ⟸   XM_047423089
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279044   ⟸   XM_047423088
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279043   ⟸   XM_047423087
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279042   ⟸   XM_047423086
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279048   ⟸   XM_047423092
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279049   ⟸   XM_047423093
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279047   ⟸   XM_047423091
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279053   ⟸   XM_047423097
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279051   ⟸   XM_047423095
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279052   ⟸   XM_047423096
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279056   ⟸   XM_047423100
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279055   ⟸   XM_047423099
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279054   ⟸   XM_047423098
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279057   ⟸   XM_047423101
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218497   ⟸   XM_054362522
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218495   ⟸   XM_054362520
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218496   ⟸   XM_054362521
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218494   ⟸   XM_054362519
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218493   ⟸   XM_054362518
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218492   ⟸   XM_054362517
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218491   ⟸   XM_054362516
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218490   ⟸   XM_054362515
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218489   ⟸   XM_054362514
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218500   ⟸   XM_054362525
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218498   ⟸   XM_054362523
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   Q9H9W8 (UniProtKB/Swiss-Prot),   Q9H8U6 (UniProtKB/Swiss-Prot),   Q6P9D6 (UniProtKB/Swiss-Prot),   Q658P5 (UniProtKB/Swiss-Prot),   Q63HM7 (UniProtKB/Swiss-Prot),   Q5VV80 (UniProtKB/Swiss-Prot),   B4DRZ8 (UniProtKB/Swiss-Prot),   B4DIT6 (UniProtKB/Swiss-Prot),   Q9NVK1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218499   ⟸   XM_054362524
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218505   ⟸   XM_054362530
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218504   ⟸   XM_054362529
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218507   ⟸   XM_054362532
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218503   ⟸   XM_054362528
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218501   ⟸   XM_054362526
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218502   ⟸   XM_054362527
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218506   ⟸   XM_054362531
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218508   ⟸   XM_054362533
- Peptide Label: isoform X9
Protein Domains
Cytosolic carboxypeptidase N-terminal   Peptidase M14   Peptidase M14 carboxypeptidase A

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPW5-F1-model_v2 AlphaFold Q9UPW5 1-1226 view protein structure

Promoters
RGD ID:7215363
Promoter ID:EPDNEW_H13428
Type:initiation region
Name:AGTPBP1_1
Description:ATP/GTP binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,742,270 - 85,742,330EPDNEW
RGD ID:6807533
Promoter ID:HG_KWN:63867
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337006,   ENST00000357081,   ENST00000376081,   ENST00000376082,   ENST00000376109,   ENST00000395847,   NM_015239
Position:
Human AssemblyChrPosition (strand)Source
Build 36987,546,446 - 87,547,417 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17258 AgrOrtholog
COSMIC AGTPBP1 COSMIC
Ensembl Genes ENSG00000135049 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000230303 Ensembl
Ensembl Transcript ENST00000337006 ENTREZGENE
  ENST00000337006.8 UniProtKB/TrEMBL
  ENST00000357081 ENTREZGENE
  ENST00000357081.8 UniProtKB/Swiss-Prot
  ENST00000376083 ENTREZGENE
  ENST00000376083.7 UniProtKB/Swiss-Prot
  ENST00000628899 ENTREZGENE
  ENST00000628899.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.3120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135049 GTEx
  ENSG00000230303 GTEx
HGNC ID HGNC:17258 ENTREZGENE
Human Proteome Map AGTPBP1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBPC1/4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytosolic_carboxypeptidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pepdidase_M14_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23287 UniProtKB/Swiss-Prot
NCBI Gene 23287 ENTREZGENE
OMIM 606830 OMIM
PANTHER CYTOSOLIC CARBOXYPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOSOLIC CARBOXYPEPTIDASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pepdidase_M14_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24630 PharmGKB
PROSITE PEPTIDASE_M14 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DIT6 ENTREZGENE
  B4DRZ8 ENTREZGENE
  CBPC1_HUMAN UniProtKB/Swiss-Prot
  J3KNS1 ENTREZGENE, UniProtKB/TrEMBL
  Q5VV80 ENTREZGENE
  Q63HM7 ENTREZGENE
  Q658P5 ENTREZGENE
  Q6P9D6 ENTREZGENE
  Q9H8U6 ENTREZGENE
  Q9H9W8 ENTREZGENE
  Q9NVK1 ENTREZGENE
  Q9UPW5 ENTREZGENE
UniProt Secondary B4DIT6 UniProtKB/Swiss-Prot
  B4DRZ8 UniProtKB/Swiss-Prot
  Q5VV80 UniProtKB/Swiss-Prot
  Q63HM7 UniProtKB/Swiss-Prot
  Q658P5 UniProtKB/Swiss-Prot
  Q6P9D6 UniProtKB/Swiss-Prot
  Q9H8U6 UniProtKB/Swiss-Prot
  Q9H9W8 UniProtKB/Swiss-Prot
  Q9NVK1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-04-14 AGTPBP1  ATP/GTP binding carboxypeptidase 1  AL353743.2  novel transcript  Data merged from RGD:16554688 737654 PROVISIONAL
2021-02-08 AGTPBP1  ATP/GTP binding carboxypeptidase 1  AGTPBP1  ATP/GTP binding protein 1  Symbol and/or name change 19259463 PROVISIONAL
2020-06-25 AL353743.2  novel transcript  LOC102724057  uncharacterized LOC102724057  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC102724057  uncharacterized LOC102724057  AL353743.2  novel transcript  Symbol and/or name change 5135510 APPROVED