PTRH1 (peptidyl-tRNA hydrolase 1 homolog) - Rat Genome Database

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Gene: PTRH1 (peptidyl-tRNA hydrolase 1 homolog) Homo sapiens
Analyze
Symbol: PTRH1
Name: peptidyl-tRNA hydrolase 1 homolog
RGD ID: 1320908
HGNC Page HGNC:27039
Description: Enables aminoacyl-tRNA hydrolase activity. Involved in rescue of stalled ribosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf115; chromosome 9 open reading frame 115; MGC51999; peptidyl-tRNA hydrolase; probable peptidyl-tRNA hydrolase; PTH; PTH1
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
GRCh389127,694,150 - 127,715,676 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,690,348 - 127,724,873 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,475,942 - 130,477,955 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,516,048 - 129,517,757 (-)NCBINCBI36Build 36hg18NCBI36
Build 349127,555,780 - 127,557,490NCBI
Celera9101,127,119 - 101,128,828 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,092,340 - 100,094,049 (-)NCBIHuRef
CHM1_19130,627,408 - 130,629,117 (-)NCBICHM1_1
T2T-CHM13v2.09139,901,102 - 139,922,631 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14660562   PMID:14702039   PMID:15489334   PMID:16344560   PMID:18482256   PMID:20877624   PMID:21873635   PMID:22658674   PMID:25416956   PMID:26186194  
PMID:28514442   PMID:28675297   PMID:30244831   PMID:31527615   PMID:32296183   PMID:33545068   PMID:33961781   PMID:34921745   PMID:35013218   PMID:35944360   PMID:36215168   PMID:36244648  
PMID:36574265  


Genomics

Comparative Map Data
PTRH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,694,150 - 127,715,676 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,690,348 - 127,724,873 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,475,942 - 130,477,955 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,516,048 - 129,517,757 (-)NCBINCBI36Build 36hg18NCBI36
Build 349127,555,780 - 127,557,490NCBI
Celera9101,127,119 - 101,128,828 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,092,340 - 100,094,049 (-)NCBIHuRef
CHM1_19130,627,408 - 130,629,117 (-)NCBICHM1_1
T2T-CHM13v2.09139,901,102 - 139,922,631 (-)NCBIT2T-CHM13v2.0
Ptrh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,665,760 - 32,667,609 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,665,798 - 32,667,609 (+)EnsemblGRCm39 Ensembl
GRCm38232,775,748 - 32,778,708 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,775,786 - 32,777,597 (+)EnsemblGRCm38mm10GRCm38
MGSCv37232,631,341 - 32,633,113 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36232,597,830 - 32,599,602 (+)NCBIMGSCv36mm8
Celera232,482,678 - 32,484,450 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Ptrh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,462,575 - 36,475,605 (+)NCBIGRCr8
mRatBN7.2316,064,867 - 16,071,098 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl316,064,880 - 16,070,648 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx319,133,166 - 19,134,953 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,718,173 - 27,719,960 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0325,969,984 - 25,971,771 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0311,811,303 - 11,817,007 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl311,811,962 - 11,825,640 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0317,148,898 - 17,153,915 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,733,944 - 11,764,375 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1311,646,663 - 11,648,159 (+)NCBI
Celera310,803,957 - 10,809,598 (+)NCBICelera
Cytogenetic Map3p11NCBI
Ptrh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419940,508 - 942,375 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955419940,508 - 942,375 (+)NCBIChiLan1.0ChiLan1.0
PTRH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,640,104 - 11,663,615 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,642,451 - 11,665,962 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0998,813,010 - 98,835,732 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,504,457 - 127,507,753 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,484,509 - 127,507,753 (-)Ensemblpanpan1.1panPan2
PTRH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,676,605 - 55,678,442 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,676,622 - 55,678,434 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha954,869,493 - 54,871,658 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0956,597,742 - 56,599,903 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl956,598,083 - 56,599,650 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1955,357,980 - 55,360,141 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,672,691 - 55,674,856 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0955,763,933 - 55,766,100 (+)NCBIUU_Cfam_GSD_1.0
Ptrh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,621,075 - 195,622,897 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,386,768 - 15,391,384 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,389,607 - 15,392,525 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTRH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,213,687 - 268,215,523 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,213,685 - 268,215,498 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,105,647 - 302,107,537 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTRH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,417,096 - 10,418,951 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,416,855 - 10,418,778 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660795,801,994 - 5,805,139 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptrh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247607,819,816 - 7,821,412 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247607,819,765 - 7,823,011 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTRH1
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 copy number loss See cases [RCV000050860] Chr9:126081595..127781685 [GRCh38]
Chr9:128843874..130543964 [GRCh37]
Chr9:127883695..129583785 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
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(chr9:204193-138179445) 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 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
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 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 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 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 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_003165.4(STXBP1):c.*1640C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000343792] Chr9:127692398 [GRCh38]
Chr9:130454677 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1464C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000332890] Chr9:127692222 [GRCh38]
Chr9:130454501 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1516T>C single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000292315] Chr9:127692274 [GRCh38]
Chr9:130454553 [GRCh37]
Chr9:9q34.11		 benign
NM_003165.4(STXBP1):c.*1422G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000280229] Chr9:127692180 [GRCh38]
Chr9:130454459 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1596G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000291210] Chr9:127692354 [GRCh38]
Chr9:130454633 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1581G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000403171] Chr9:127692339 [GRCh38]
Chr9:130454618 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_003165.4(STXBP1):c.*1316C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000372411] Chr9:127692074 [GRCh38]
Chr9:130454353 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1484C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000389015] Chr9:127692242 [GRCh38]
Chr9:130454521 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1732C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000396064] Chr9:127692490 [GRCh38]
Chr9:130454769 [GRCh37]
Chr9:9q34.11		 likely benign
NM_003165.4(STXBP1):c.*1836A>G single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000304101] Chr9:127692594 [GRCh38]
Chr9:130454873 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_003165.4(STXBP1):c.*1543T>G single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000349620] Chr9:127692301 [GRCh38]
Chr9:130454580 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 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
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 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 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
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
NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser) single nucleotide variant not provided [RCV000709791] Chr9:127715620 [GRCh38]
Chr9:130477899 [GRCh37]
Chr9:9q34.11		 not provided
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(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 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 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 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11		 benign
GRCh37/hg19 9q34.11(chr9:130335766-130517907) copy number loss Developmental and epileptic encephalopathy, 4 [RCV000767646] Chr9:130335766..130517907 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
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
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 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001250486] Chr9:130435492..130485618 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130374663)_(131329276_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001304269] Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 copy number loss Infantile epilepsy syndrome [RCV001265154] Chr9:130412438..131423964 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31 [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 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 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130306022-130522616) copy number loss not specified [RCV002052847] Chr9:130306022..130522616 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130392953-130526044) copy number loss not specified [RCV002052849] Chr9:130392953..130526044 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130216807)_(130700099_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001920331] Chr9:130216807..130700099 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
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
NM_001002913.3(PTRH1):c.425A>G (p.Asn142Ser) single nucleotide variant not specified [RCV004213047] Chr9:127714416 [GRCh38]
Chr9:130476695 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.434G>T (p.Gly145Val) single nucleotide variant not specified [RCV004192192] Chr9:127710601 [GRCh38]
Chr9:130472880 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1094C>T (p.Ala365Val) single nucleotide variant not specified [RCV004235940] Chr9:127712306 [GRCh38]
Chr9:130474585 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.441G>C (p.Lys147Asn) single nucleotide variant not specified [RCV004124475] Chr9:127710608 [GRCh38]
Chr9:130472887 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.160C>T (p.Arg54Trp) single nucleotide variant not specified [RCV004103110] Chr9:127707191 [GRCh38]
Chr9:130469470 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.867G>A (p.Met289Ile) single nucleotide variant not specified [RCV004137074] Chr9:127711831 [GRCh38]
Chr9:130474110 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.521A>G (p.Lys174Arg) single nucleotide variant not specified [RCV004078581] Chr9:127710688 [GRCh38]
Chr9:130472967 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1241C>T (p.Thr414Met) single nucleotide variant not specified [RCV004239904] Chr9:127712812 [GRCh38]
Chr9:130475091 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1336T>C (p.Ser446Pro) single nucleotide variant not specified [RCV004232072] Chr9:127713051 [GRCh38]
Chr9:130475330 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.923G>A (p.Arg308His) single nucleotide variant not specified [RCV004125991] Chr9:127711887 [GRCh38]
Chr9:130474166 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.284T>G (p.Val95Gly) single nucleotide variant not specified [RCV004116749] Chr9:127709544 [GRCh38]
Chr9:130471823 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.440A>G (p.Lys147Arg) single nucleotide variant not specified [RCV004227597] Chr9:127710607 [GRCh38]
Chr9:130472886 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.517C>G (p.Gln173Glu) single nucleotide variant not specified [RCV004099820] Chr9:127714228 [GRCh38]
Chr9:130476507 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.192G>C (p.Glu64Asp) single nucleotide variant not specified [RCV004231530] Chr9:127715099 [GRCh38]
Chr9:130477378 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.362C>T (p.Ala121Val) single nucleotide variant not specified [RCV004233594] Chr9:127709622 [GRCh38]
Chr9:130471901 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.857T>A (p.Ile286Asn) single nucleotide variant not specified [RCV004230305] Chr9:127711821 [GRCh38]
Chr9:130474100 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.581G>A (p.Arg194Gln) single nucleotide variant not specified [RCV004193512] Chr9:127714164 [GRCh38]
Chr9:130476443 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1495C>T (p.Arg499Cys) single nucleotide variant not specified [RCV004073716] Chr9:127713837 [GRCh38]
Chr9:130476116 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.433C>T (p.Arg145Cys) single nucleotide variant not specified [RCV004196446] Chr9:127714408 [GRCh38]
Chr9:130476687 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.208C>T (p.Arg70Trp) single nucleotide variant not specified [RCV004203241] Chr9:127715083 [GRCh38]
Chr9:130477362 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.463C>T (p.Arg155Trp) single nucleotide variant not specified [RCV004124754] Chr9:127710630 [GRCh38]
Chr9:130472909 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1041G>T (p.Gln347His) single nucleotide variant not specified [RCV004261183] Chr9:127712253 [GRCh38]
Chr9:130474532 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.73C>T (p.Arg25Cys) single nucleotide variant not specified [RCV004264779] Chr9:127715567 [GRCh38]
Chr9:130477846 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.307G>A (p.Glu103Lys) single nucleotide variant not specified [RCV004251437] Chr9:127709567 [GRCh38]
Chr9:130471846 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.608A>G (p.Gln203Arg) single nucleotide variant not specified [RCV004291632] Chr9:127711249 [GRCh38]
Chr9:130473528 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1139T>C (p.Met380Thr) single nucleotide variant not specified [RCV004310988] Chr9:127712710 [GRCh38]
Chr9:130474989 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1186T>C (p.Trp396Arg) single nucleotide variant not specified [RCV004332613] Chr9:127712757 [GRCh38]
Chr9:130475036 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.497C>T (p.Pro166Leu) single nucleotide variant not specified [RCV004256330] Chr9:127714248 [GRCh38]
Chr9:130476527 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.317C>T (p.Ala106Val) single nucleotide variant not specified [RCV004274630] Chr9:127714702 [GRCh38]
Chr9:130476981 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.538T>A (p.Phe180Ile) single nucleotide variant not specified [RCV004346774] Chr9:127714207 [GRCh38]
Chr9:130476486 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.224A>T (p.Asp75Val) single nucleotide variant not specified [RCV004327042] Chr9:127715067 [GRCh38]
Chr9:130477346 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.23G>A (p.Gly8Asp) single nucleotide variant not specified [RCV004312030] Chr9:127715617 [GRCh38]
Chr9:130477896 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1079G>A (p.Arg360Gln) single nucleotide variant not specified [RCV004290342] Chr9:127712291 [GRCh38]
Chr9:130474570 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.967G>A (p.Val323Met) single nucleotide variant not specified [RCV004349520] Chr9:127711931 [GRCh38]
Chr9:130474210 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.419A>G (p.Glu140Gly) single nucleotide variant not specified [RCV004363536] Chr9:127709679 [GRCh38]
Chr9:130471958 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.416C>T (p.Thr139Met) single nucleotide variant not specified [RCV004337337] Chr9:127709676 [GRCh38]
Chr9:130471955 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.318G>C (p.Gln106His) single nucleotide variant not specified [RCV004357818] Chr9:127709578 [GRCh38]
Chr9:130471857 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001374314.1(STXBP1):c.*64A>G single nucleotide variant not provided [RCV003430251] Chr9:127695080 [GRCh38]
Chr9:130457359 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001374314.1(STXBP1):c.*40ATG[9] microsatellite not provided [RCV003430250] Chr9:127695054..127695065 [GRCh38]
Chr9:130457333..130457344 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001002913.3(PTRH1):c.203G>T (p.Arg68Leu) single nucleotide variant not specified [RCV004343275] Chr9:127715088 [GRCh38]
Chr9:130477367 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.533G>A (p.Gly178Asp) single nucleotide variant not specified [RCV004438075] Chr9:127714212 [GRCh38]
Chr9:130476491 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.638G>C (p.Gly213Ala) single nucleotide variant not specified [RCV004438077] Chr9:127714107 [GRCh38]
Chr9:130476386 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.50T>A (p.Met17Lys) single nucleotide variant not specified [RCV004438074] Chr9:127715590 [GRCh38]
Chr9:130477869 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.11G>A (p.Gly4Asp) single nucleotide variant not specified [RCV004438070] Chr9:127715629 [GRCh38]
Chr9:130477908 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.49A>G (p.Met17Val) single nucleotide variant not specified [RCV004438073] Chr9:127715591 [GRCh38]
Chr9:130477870 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.302G>A (p.Ser101Asn) single nucleotide variant not specified [RCV004438072] Chr9:127714989 [GRCh38]
Chr9:130477268 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.611G>A (p.Arg204His) single nucleotide variant not specified [RCV004438076] Chr9:127714134 [GRCh38]
Chr9:130476413 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.118G>A (p.Gly40Arg) single nucleotide variant not specified [RCV004438069] Chr9:127715173 [GRCh38]
Chr9:130477452 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001002913.3(PTRH1):c.220G>C (p.Ala74Pro) single nucleotide variant not specified [RCV004438071] Chr9:127715071 [GRCh38]
Chr9:130477350 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1145G>A (p.Arg382His) single nucleotide variant not specified [RCV004428699] Chr9:127712716 [GRCh38]
Chr9:130474995 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1457G>A (p.Arg486His) single nucleotide variant not specified [RCV004428700] Chr9:127713172 [GRCh38]
Chr9:130475451 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1505G>T (p.Gly502Val) single nucleotide variant not specified [RCV004428701] Chr9:127713847 [GRCh38]
Chr9:130476126 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.1519C>T (p.Leu507Phe) single nucleotide variant not specified [RCV004428702] Chr9:127713861 [GRCh38]
Chr9:130476140 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001012502.3(CFAP157):c.292A>C (p.Ile98Leu) single nucleotide variant not specified [RCV004428704] Chr9:127709552 [GRCh38]
Chr9:130471831 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.314T>C (p.Leu105Pro) single nucleotide variant not specified [RCV004428705] Chr9:127709574 [GRCh38]
Chr9:130471853 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.425T>C (p.Ile142Thr) single nucleotide variant not specified [RCV004428706] Chr9:127709685 [GRCh38]
Chr9:130471964 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.10A>C (p.Lys4Gln) single nucleotide variant not specified [RCV004428698] Chr9:127707041 [GRCh38]
Chr9:130469320 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001012502.3(CFAP157):c.656G>A (p.Arg219Gln) single nucleotide variant not specified [RCV004428707] Chr9:127711297 [GRCh38]
Chr9:130473576 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001012502.3(CFAP157):c.152G>T (p.Arg51Leu) single nucleotide variant not specified [RCV004428703] Chr9:127707183 [GRCh38]
Chr9:130469462 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1663
Count of miRNA genes:682
Interacting mature miRNAs:770
Transcripts:ENST00000414832, ENST00000416214, ENST00000419060, ENST00000423807, ENST00000456267, ENST00000543175
Prediction methods: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.

Markers in Region
RH92521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,476,217 - 130,476,387UniSTSGRCh37
Build 369129,516,038 - 129,516,208RGDNCBI36
Celera9101,127,109 - 101,127,279RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,092,330 - 100,092,500UniSTS
GeneMap99-GB4 RH Map9385.51UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 34 23 565 5 4 4 412 32 437 18 374 559 1 37 259
Low 2267 2858 905 415 1233 257 3725 2132 3198 127 894 819 170 1 1167 2528 4 2
Below cutoff 112 93 113 65 364 66 202 24 95 165 160 213 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001002913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001345977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001345978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001345979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001345980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK090922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV709373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX418200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE295757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM691270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ045289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB141384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB905510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC962919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335223   ⟹   ENSP00000493136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,692,978 - 127,715,647 (-)Ensembl
RefSeq Acc Id: ENST00000414832   ⟹   ENSP00000485479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,714,068 - 127,715,631 (-)Ensembl
RefSeq Acc Id: ENST00000416214   ⟹   ENSP00000485367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,714,628 - 127,715,651 (-)Ensembl
RefSeq Acc Id: ENST00000419060   ⟹   ENSP00000418661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,713,510 - 127,724,873 (-)Ensembl
RefSeq Acc Id: ENST00000423807   ⟹   ENSP00000418219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,713,493 - 127,716,003 (-)Ensembl
RefSeq Acc Id: ENST00000429848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,715,980 - 127,724,832 (-)Ensembl
RefSeq Acc Id: ENST00000456267   ⟹   ENSP00000485347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,713,972 - 127,715,604 (-)Ensembl
RefSeq Acc Id: ENST00000543175   ⟹   ENSP00000439469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,713,807 - 127,715,663 (-)Ensembl
RefSeq Acc Id: ENST00000641641   ⟹   ENSP00000492921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,690,348 - 127,694,959 (-)Ensembl
RefSeq Acc Id: NM_001002913   ⟹   NP_001002913
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,713,807 - 127,715,663 (-)NCBI
GRCh379130,476,227 - 130,487,152 (-)NCBI
Build 369129,516,048 - 129,517,757 (-)NCBI Archive
Celera9101,127,119 - 101,128,828 (-)RGD
HuRef9100,092,340 - 100,094,049 (-)RGD
CHM1_19130,627,408 - 130,629,117 (-)NCBI
T2T-CHM13v2.09139,920,762 - 139,922,618 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001345977   ⟹   NP_001332906
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,713,663 - 127,715,676 (-)NCBI
T2T-CHM13v2.09139,920,618 - 139,922,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001345978   ⟹   NP_001332907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,713,663 - 127,715,676 (-)NCBI
T2T-CHM13v2.09139,920,618 - 139,922,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001345979   ⟹   NP_001332908
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,713,663 - 127,715,676 (-)NCBI
T2T-CHM13v2.09139,920,618 - 139,922,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001345980   ⟹   NP_001332909
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,713,663 - 127,715,676 (-)NCBI
T2T-CHM13v2.09139,920,618 - 139,922,631 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422774   ⟹   XP_047278730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,694,150 - 127,715,676 (-)NCBI
RefSeq Acc Id: XM_047422775   ⟹   XP_047278731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,694,162 - 127,715,676 (-)NCBI
RefSeq Acc Id: XM_054361987   ⟹   XP_054217962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,901,102 - 139,922,631 (-)NCBI
RefSeq Acc Id: XM_054361988   ⟹   XP_054217963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,901,114 - 139,922,631 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001002913   ⟸   NM_001002913
- Peptide Label: isoform 1
- UniProtKB: Q86Y79 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001332909   ⟸   NM_001345980
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001332908   ⟸   NM_001345979
- Peptide Label: isoform 4
- UniProtKB: A0A096LPA3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001332907   ⟸   NM_001345978
- Peptide Label: isoform 3
- UniProtKB: C9J7Z1 (UniProtKB/TrEMBL),   A0A096LPA3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001332906   ⟸   NM_001345977
- Peptide Label: isoform 2
- UniProtKB: A0A096LP22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000418219   ⟸   ENST00000423807
RefSeq Acc Id: ENSP00000439469   ⟸   ENST00000543175
RefSeq Acc Id: ENSP00000493136   ⟸   ENST00000335223
RefSeq Acc Id: ENSP00000485479   ⟸   ENST00000414832
RefSeq Acc Id: ENSP00000485367   ⟸   ENST00000416214
RefSeq Acc Id: ENSP00000485347   ⟸   ENST00000456267
RefSeq Acc Id: ENSP00000418661   ⟸   ENST00000419060
RefSeq Acc Id: ENSP00000492921   ⟸   ENST00000641641
RefSeq Acc Id: XP_047278730   ⟸   XM_047422774
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047278731   ⟸   XM_047422775
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217962   ⟸   XM_054361987
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217963   ⟸   XM_054361988
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86Y79-F1-model_v2 AlphaFold Q86Y79 1-214 view protein structure

Promoters
RGD ID:7216195
Promoter ID:EPDNEW_H13842
Type:initiation region
Name:PTRH1_1
Description:peptidyl-tRNA hydrolase 1 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,715,660 - 127,715,720EPDNEW
RGD ID:6808153
Promoter ID:HG_KWN:65032
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:OTTHUMT00000054214,   OTTHUMT00000054221,   OTTHUMT00000054222,   OTTHUMT00000054223,   UC004BRO.1,   UC010MXM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,517,576 - 129,518,076 (-)MPROMDB
RGD ID:6808026
Promoter ID:HG_KWN:65036
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054219,   OTTHUMT00000054227
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,526,646 - 129,527,146 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27039 AgrOrtholog
COSMIC PTRH1 COSMIC
Ensembl Genes ENSG00000187024 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335223.5 UniProtKB/TrEMBL
  ENST00000414832 ENTREZGENE
  ENST00000414832.2 UniProtKB/TrEMBL
  ENST00000416214.1 UniProtKB/TrEMBL
  ENST00000419060.5 UniProtKB/Swiss-Prot
  ENST00000423807 ENTREZGENE
  ENST00000423807.5 UniProtKB/TrEMBL
  ENST00000456267 ENTREZGENE
  ENST00000456267.5 UniProtKB/TrEMBL
  ENST00000543175 ENTREZGENE
  ENST00000543175.5 UniProtKB/Swiss-Prot
  ENST00000641641.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1470 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187024 GTEx
HGNC ID HGNC:27039 ENTREZGENE
Human Proteome Map PTRH1 Human Proteome Map
InterPro Pept_tRNA_hydro UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_tRNA_hydro_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_tRNA_hydro_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:138428 UniProtKB/Swiss-Prot
NCBI Gene 138428 ENTREZGENE
PANTHER PEPTIDYL-TRNA HYDROLASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR17224 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pept_tRNA_hydro UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134917129 PharmGKB
PROSITE PEPT_TRNA_HYDROL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53178 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LP22 ENTREZGENE, UniProtKB/TrEMBL
  A0A096LP34_HUMAN UniProtKB/TrEMBL
  A0A096LPA3 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YER0_HUMAN UniProtKB/TrEMBL
  A0A286YF52_HUMAN UniProtKB/TrEMBL
  C9J7Z1 ENTREZGENE, UniProtKB/TrEMBL
  PTH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-14 PTRH1  peptidyl-tRNA hydrolase 1 homolog    peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED