PHPT1 (phosphohistidine phosphatase 1) - Rat Genome Database

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Gene: PHPT1 (phosphohistidine phosphatase 1) Homo sapiens
Analyze
Symbol: PHPT1
Name: phosphohistidine phosphatase 1
RGD ID: 1322769
HGNC Page HGNC:30033
Description: Enables several functions, including calcium channel inhibitor activity; protein histidine phosphatase activity; and transmembrane transporter binding activity. Involved in several processes, including lamellipodium organization; negative regulation of T cell receptor signaling pathway; and positive regulation of cell motility. Located in several cellular components, including cytosol; leading edge of lamellipodium; and nuclear body.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 14 kDa phosphohistidine phosphatase; 1700008C22Rik; bA216L13.10; CGI-202; DKFZp564M173; epididymis secretory sperm binding protein Li 132P; HEL-S-132P; HSPC141; phosphohistidine phosphatase 14kDa; PHP; PHP14; protein janus-A homolog; RP11-216L13.10; sex-regulated protein janus-a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389136,849,409 - 136,851,024 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9136,848,724 - 136,851,027 (+)EnsemblGRCh38hg38GRCh38
GRCh379139,743,861 - 139,745,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,863,367 - 138,865,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 349137,019,382 - 137,021,327NCBI
Celera9110,257,046 - 110,259,279 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,202,666 - 109,204,708 (+)NCBIHuRef
CHM1_19139,891,999 - 139,894,223 (+)NCBICHM1_1
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8681137   PMID:8889548   PMID:9110174   PMID:10931946   PMID:11042152   PMID:11076863   PMID:11230166   PMID:11342225   PMID:12383260   PMID:12477932   PMID:15146197  
PMID:15342556   PMID:15489334   PMID:15489336   PMID:16130169   PMID:16169070   PMID:16189514   PMID:16219293   PMID:16344560   PMID:16381901   PMID:16713569   PMID:18656514   PMID:18796614  
PMID:18991813   PMID:19056867   PMID:19138678   PMID:19344975   PMID:20110805   PMID:20501872   PMID:21044950   PMID:21163124   PMID:21873635   PMID:21967643   PMID:22939629   PMID:23376485  
PMID:24523290   PMID:25450458   PMID:25574816   PMID:26344197   PMID:26537769   PMID:27034094   PMID:27924678   PMID:28190767   PMID:28330616   PMID:28514442   PMID:28675297   PMID:28986522  
PMID:29098317   PMID:29630837   PMID:29787434   PMID:31046837   PMID:31478661   PMID:31536960   PMID:31980649   PMID:32416067   PMID:32457219   PMID:32814053   PMID:33845483   PMID:33961781  
PMID:35063084   PMID:35256949   PMID:35271311   PMID:35411430   PMID:35559673   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36217030   PMID:37506885  


Genomics

Comparative Map Data
PHPT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389136,849,409 - 136,851,024 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9136,848,724 - 136,851,027 (+)EnsemblGRCh38hg38GRCh38
GRCh379139,743,861 - 139,745,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,863,367 - 138,865,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 349137,019,382 - 137,021,327NCBI
Celera9110,257,046 - 110,259,279 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,202,666 - 109,204,708 (+)NCBIHuRef
CHM1_19139,891,999 - 139,894,223 (+)NCBICHM1_1
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBIT2T-CHM13v2.0
Phpt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,463,442 - 25,465,528 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl225,463,442 - 25,465,236 (-)EnsemblGRCm39 Ensembl
GRCm38225,573,430 - 25,575,514 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,573,430 - 25,575,224 (-)EnsemblGRCm38mm10GRCm38
MGSCv37225,428,951 - 25,430,391 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36225,395,440 - 25,396,880 (-)NCBIMGSCv36mm8
Celera225,301,192 - 25,302,632 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.44NCBI
Phpt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8328,791,062 - 28,792,905 (-)NCBIGRCr8
mRatBN7.238,392,926 - 8,394,325 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx311,498,106 - 11,499,505 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0320,084,332 - 20,085,731 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0318,274,175 - 18,275,574 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.032,797,037 - 2,798,436 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl32,796,997 - 2,798,470 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.032,778,450 - 2,779,849 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,744,947 - 3,746,346 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.133,745,120 - 3,746,334 (-)NCBI
Celera33,217,877 - 3,219,276 (-)NCBICelera
Cytogenetic Map3p13NCBI
Phpt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555134,930,951 - 4,932,509 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555134,930,951 - 4,932,509 (+)NCBIChiLan1.0ChiLan1.0
PHPT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,551,316 - 2,553,397 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan192,553,651 - 2,555,698 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09107,906,160 - 107,908,130 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19136,877,274 - 136,878,317 (+)NCBIpanpan1.1PanPan1.1panPan2
PHPT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,736,310 - 48,737,771 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,736,333 - 48,737,725 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,949,921 - 47,951,381 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0949,614,346 - 49,615,806 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl949,614,371 - 49,615,763 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1948,390,569 - 48,392,028 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0948,689,275 - 48,690,734 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0948,736,240 - 48,737,700 (-)NCBIUU_Cfam_GSD_1.0
Phpt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,307,826 - 202,309,158 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366691,065,900 - 1,067,214 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366691,065,901 - 1,067,214 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHPT1
(Sus scrofa - pig)		 No map positions available.
PHPT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1121,338,205 - 1,340,143 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl121,338,388 - 1,339,753 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660583,936,606 - 3,938,603 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PHPT1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 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 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 9q33.2-34.3(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 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3		 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
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3		 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 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 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 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 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3		 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 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(chr9:193412-138159073)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 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3		 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 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3		 likely 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 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 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
GRCh37/hg19 9q34.3(chr9:139726282-139749102)x3 copy number gain not provided [RCV000753210] Chr9:139726282..139749102 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139728202-139754427)x3 copy number gain not provided [RCV000753217] Chr9:139728202..139754427 [GRCh37]
Chr9:9q34.3		 benign
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 9q34.3(chr9:139566910-139751899)x3 copy number gain See cases [RCV000449187] Chr9:139566910..139751899 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3		 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 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 9q34.3(chr9:139739420-139744458)x3 copy number gain See cases [RCV000445665] Chr9:139739420..139744458 [GRCh37]
Chr9:9q34.3		 benign
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 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 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 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3		 likely 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_014172.6(PHPT1):c.307G>T (p.Ala103Ser) single nucleotide variant Inborn genetic diseases [RCV003262396] Chr9:136850776 [GRCh38]
Chr9:139745228 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
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 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139700656-139748282)x3 copy number gain not provided [RCV000753205] Chr9:139700656..139748282 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139726282-139756883)x3 copy number gain not provided [RCV000753214] Chr9:139726282..139756883 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139728202-139751183)x3 copy number gain not provided [RCV000753215] Chr9:139728202..139751183 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139700608-139754427)x3 copy number gain not provided [RCV000753204] Chr9:139700608..139754427 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139700656-139749302)x3 copy number gain not provided [RCV000753206] Chr9:139700656..139749302 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139726282-139754427)x3 copy number gain not provided [RCV000753212] Chr9:139726282..139754427 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139728202-139751625)x3 copy number gain not provided [RCV000753216] Chr9:139728202..139751625 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139699824-139751625)x3 copy number gain not provided [RCV000753203] Chr9:139699824..139751625 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139700656-139751183)x3 copy number gain not provided [RCV000753207] Chr9:139700656..139751183 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139700690-139754361)x3 copy number gain not provided [RCV000753208] Chr9:139700690..139754361 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139711726-139756883)x3 copy number gain not provided [RCV000753209] Chr9:139711726..139756883 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139726282-139751625)x3 copy number gain not provided [RCV000753211] Chr9:139726282..139751625 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:139726282-139754431)x3 copy number gain not provided [RCV000753213] Chr9:139726282..139754431 [GRCh37]
Chr9:9q34.3		 benign
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 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3		 pathogenic
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_014172.6(PHPT1):c.117G>C (p.Glu39Asp) single nucleotide variant not provided [RCV000958368] Chr9:136849547 [GRCh38]
Chr9:139743999 [GRCh37]
Chr9:9q34.3		 likely benign
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_014172.6(PHPT1):c.8T>C (p.Val3Ala) single nucleotide variant not provided [RCV000882719] Chr9:136849438 [GRCh38]
Chr9:139743890 [GRCh37]
Chr9:9q34.3		 benign
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
NM_014172.6(PHPT1):c.316A>G (p.Thr106Ala) single nucleotide variant Inborn genetic diseases [RCV003240894] Chr9:136850785 [GRCh38]
Chr9:139745237 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_139089171)_(141016451_?)del deletion Rafiq syndrome [RCV003122293]|not provided [RCV003105304] Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|no classifications from unflagged records
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139420166-139787562)x1 copy number loss not provided [RCV001259535] Chr9:139420166..139787562 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV001305481]|Intellectual disability, autosomal dominant 8 [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_139258557)_(140003427_?)del deletion Predisposition to invasive fungal disease due to CARD9 deficiency [RCV001380370] Chr9:139258557..140003427 [GRCh37]
Chr9:9q34.3		 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 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139563039-140310033) copy number loss not specified [RCV002052853] Chr9:139563039..140310033 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_135139626)_(140034216_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del deletion Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3		 uncertain significance
NM_014172.6(PHPT1):c.134G>A (p.Arg45His) single nucleotide variant Inborn genetic diseases [RCV002902592] Chr9:136849564 [GRCh38]
Chr9:139744016 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.280T>A (p.Ser94Thr) single nucleotide variant Inborn genetic diseases [RCV002707954] Chr9:136850132 [GRCh38]
Chr9:139744584 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.281C>A (p.Ser94Tyr) single nucleotide variant Inborn genetic diseases [RCV002707955] Chr9:136850133 [GRCh38]
Chr9:139744585 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.340C>T (p.Pro114Ser) single nucleotide variant Inborn genetic diseases [RCV002916489] Chr9:136850809 [GRCh38]
Chr9:139745261 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.60C>G (p.Phe20Leu) single nucleotide variant Inborn genetic diseases [RCV002830640] Chr9:136849490 [GRCh38]
Chr9:139743942 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.290A>G (p.Tyr97Cys) single nucleotide variant Inborn genetic diseases [RCV002955038] Chr9:136850759 [GRCh38]
Chr9:139745211 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 copy number loss See cases [RCV002640756] Chr9:134962336..137240181 [GRCh38]
Chr9:9q34.3		 pathogenic
NM_014172.6(PHPT1):c.13G>A (p.Asp5Asn) single nucleotide variant Inborn genetic diseases [RCV002964420] Chr9:136849443 [GRCh38]
Chr9:139743895 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.367G>A (p.Asp123Asn) single nucleotide variant Inborn genetic diseases [RCV002717507] Chr9:136850836 [GRCh38]
Chr9:139745288 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.251A>G (p.Gln84Arg) single nucleotide variant Inborn genetic diseases [RCV002940938] Chr9:136850103 [GRCh38]
Chr9:139744555 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.35T>C (p.Val12Ala) single nucleotide variant Inborn genetic diseases [RCV003192471] Chr9:136849465 [GRCh38]
Chr9:139743917 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014172.6(PHPT1):c.195G>A (p.Gln65=) single nucleotide variant not provided [RCV003440769] Chr9:136850047 [GRCh38]
Chr9:139744499 [GRCh37]
Chr9:9q34.3		 likely benign
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 copy number gain not provided [RCV003484786] Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660] Chr9:139685408..141050580 [GRCh37]
Chr9:9q34.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2548
Count of miRNA genes:538
Interacting mature miRNAs:599
Transcripts:ENST00000247665, ENST00000371661, ENST00000462205, ENST00000463215, ENST00000492540, ENST00000497413, ENST00000545326
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-N90764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,745,251 - 139,745,464UniSTSGRCh37
Build 369138,865,072 - 138,865,285RGDNCBI36
Celera9110,259,040 - 110,259,253RGD
Cytogenetic Map9q34.3UniSTS
HuRef9109,204,469 - 109,204,682UniSTS
GeneMap99-GB4 RH Map9436.58UniSTS


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 1
Medium 2433 2743 1721 622 1700 464 4355 2183 3708 417 1446 1608 171 1204 2788 4
Low 5 245 3 2 251 1 1 13 12 1 4 3 3 1 2
Below cutoff 2 1 1 13 1 8 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA460844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF164795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF393504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE962935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG023922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG681446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP375594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ922335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD242442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD693554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN334799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN334800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA470768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F29783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000247665   ⟹   ENSP00000247665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,849,409 - 136,851,024 (+)Ensembl
RefSeq Acc Id: ENST00000371661   ⟹   ENSP00000360724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,848,724 - 136,851,022 (+)Ensembl
RefSeq Acc Id: ENST00000462205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,849,425 - 136,851,024 (+)Ensembl
RefSeq Acc Id: ENST00000463215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,849,779 - 136,851,022 (+)Ensembl
RefSeq Acc Id: ENST00000492540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,849,091 - 136,851,022 (+)Ensembl
RefSeq Acc Id: ENST00000497413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,849,426 - 136,851,027 (+)Ensembl
RefSeq Acc Id: NM_001135861   ⟹   NP_001129333
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,849,409 - 136,851,024 (+)NCBI
GRCh379139,743,256 - 139,745,490 (+)ENTREZGENE
HuRef9109,202,666 - 109,204,713 (+)NCBI
CHM1_19139,892,011 - 139,894,228 (+)NCBI
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287342   ⟹   NP_001274271
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,849,409 - 136,851,024 (+)NCBI
HuRef9109,202,666 - 109,204,713 (+)NCBI
CHM1_19139,892,011 - 139,894,228 (+)NCBI
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287343   ⟹   NP_001274272
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,849,409 - 136,851,024 (+)NCBI
HuRef9109,202,666 - 109,204,713 (+)NCBI
CHM1_19139,892,011 - 139,894,228 (+)NCBI
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014172   ⟹   NP_054891
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,849,409 - 136,851,024 (+)NCBI
GRCh379139,743,256 - 139,745,490 (+)ENTREZGENE
Build 369138,863,367 - 138,865,311 (+)NCBI Archive
HuRef9109,202,666 - 109,204,713 (+)NCBI
CHM1_19139,892,011 - 139,894,228 (+)NCBI
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBI
Sequence:
RefSeq Acc Id: NR_109807
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,849,409 - 136,851,024 (+)NCBI
HuRef9109,202,666 - 109,204,713 (+)NCBI
CHM1_19139,892,011 - 139,894,228 (+)NCBI
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBI
Sequence:
RefSeq Acc Id: NR_109808
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,849,409 - 136,851,024 (+)NCBI
HuRef9109,202,666 - 109,204,713 (+)NCBI
CHM1_19139,892,011 - 139,894,228 (+)NCBI
T2T-CHM13v2.09149,083,591 - 149,085,206 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001129333   ⟸   NM_001135861
- Peptide Label: isoform 2
- UniProtKB: Q9NRX4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_054891   ⟸   NM_014172
- Peptide Label: isoform 3
- UniProtKB: B1AMX1 (UniProtKB/Swiss-Prot),   B1AMX0 (UniProtKB/Swiss-Prot),   Q9H0Y3 (UniProtKB/Swiss-Prot),   Q9NRX4 (UniProtKB/Swiss-Prot),   V9HWC4 (UniProtKB/TrEMBL),   Q6FIE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274271   ⟸   NM_001287342
- Peptide Label: isoform 4
- UniProtKB: Q6FIE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274272   ⟸   NM_001287343
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: ENSP00000360724   ⟸   ENST00000371661
RefSeq Acc Id: ENSP00000247665   ⟸   ENST00000247665

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRX4-F1-model_v2 AlphaFold Q9NRX4 1-125 view protein structure

Promoters
RGD ID:7216703
Promoter ID:EPDNEW_H14098
Type:initiation region
Name:PHPT1_2
Description:phosphohistidine phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14099  EPDNEW_H14100  EPDNEW_H14101  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,842,478 - 136,842,538EPDNEW
RGD ID:7216705
Promoter ID:EPDNEW_H14099
Type:initiation region
Name:PHPT1_1
Description:phosphohistidine phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14098  EPDNEW_H14100  EPDNEW_H14101  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,848,029 - 136,848,089EPDNEW
RGD ID:7216707
Promoter ID:EPDNEW_H14100
Type:initiation region
Name:PHPT1_3
Description:phosphohistidine phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14098  EPDNEW_H14099  EPDNEW_H14101  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,848,788 - 136,848,848EPDNEW
RGD ID:7216709
Promoter ID:EPDNEW_H14101
Type:initiation region
Name:PHPT1_4
Description:phosphohistidine phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14098  EPDNEW_H14099  EPDNEW_H14100  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,848,999 - 136,849,059EPDNEW
RGD ID:6807431
Promoter ID:HG_KWN:65643
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000371659,   ENST00000371661,   NM_001135861,   OTTHUMT00000055153,   OTTHUMT00000055154,   UC004CJP.1,   UC004CJQ.2,   UC004CJR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369138,861,371 - 138,864,402 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30033 AgrOrtholog
COSMIC PHPT1 COSMIC
Ensembl Genes ENSG00000054148 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000247665 ENTREZGENE
  ENST00000247665.12 UniProtKB/Swiss-Prot
  ENST00000371661 ENTREZGENE
  ENST00000371661.5 UniProtKB/Swiss-Prot
  ENST00000462205 ENTREZGENE
Gene3D-CATH 3.50.20.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000054148 GTEx
HGNC ID HGNC:30033 ENTREZGENE
Human Proteome Map PHPT1 Human Proteome Map
InterPro Janus UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Janus_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29085 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 29085 ENTREZGENE
OMIM 610167 OMIM
PANTHER PTHR12258 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12258:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ocnus UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134948141 PharmGKB
Superfamily-SCOP PHP14-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AMX0 ENTREZGENE
  B1AMX1 ENTREZGENE
  PHP14_HUMAN UniProtKB/Swiss-Prot
  Q6FIE5 ENTREZGENE, UniProtKB/TrEMBL
  Q9H0Y3 ENTREZGENE
  Q9NRX4 ENTREZGENE
  V9HWC4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B1AMX0 UniProtKB/Swiss-Prot
  B1AMX1 UniProtKB/Swiss-Prot
  Q9H0Y3 UniProtKB/Swiss-Prot