PHTF1 (putative homeodomain transcription factor 1) - Rat Genome Database

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Gene: PHTF1 (putative homeodomain transcription factor 1) Homo sapiens
Analyze
Symbol: PHTF1
Name: putative homeodomain transcription factor 1
RGD ID: 1353546
HGNC Page HGNC:8939
Description: Predicted to be located in cis-Golgi network membrane and endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PHTF
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
GRCh381113,696,831 - 113,759,888 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1113,696,831 - 113,759,489 (-)EnsemblGRCh38hg38GRCh38
GRCh371114,239,453 - 114,302,510 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361114,041,360 - 114,102,879 (-)NCBINCBI36Build 36hg18NCBI36
Build 341113,951,878 - 114,013,398NCBI
Celera1112,469,051 - 112,531,003 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1112,097,398 - 112,159,913 (-)NCBIHuRef
CHM1_11114,354,665 - 114,416,622 (-)NCBICHM1_1
T2T-CHM13v2.01113,708,467 - 113,771,550 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1729229   PMID:10395808   PMID:10729229   PMID:12477932   PMID:15489334   PMID:16344560   PMID:16710414   PMID:17554260   PMID:17554300   PMID:18305142   PMID:18794853   PMID:18978792  
PMID:20089178   PMID:20211142   PMID:20379614   PMID:21873635   PMID:22493691   PMID:23128233   PMID:23251661   PMID:23568457   PMID:28514442   PMID:29117863   PMID:30021884   PMID:33961781  


Genomics

Comparative Map Data
PHTF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381113,696,831 - 113,759,888 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1113,696,831 - 113,759,489 (-)EnsemblGRCh38hg38GRCh38
GRCh371114,239,453 - 114,302,510 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361114,041,360 - 114,102,879 (-)NCBINCBI36Build 36hg18NCBI36
Build 341113,951,878 - 114,013,398NCBI
Celera1112,469,051 - 112,531,003 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1112,097,398 - 112,159,913 (-)NCBIHuRef
CHM1_11114,354,665 - 114,416,622 (-)NCBICHM1_1
T2T-CHM13v2.01113,708,467 - 113,771,550 (-)NCBIT2T-CHM13v2.0
Phtf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393103,875,426 - 103,914,806 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3103,875,426 - 103,931,914 (+)EnsemblGRCm39 Ensembl
GRCm383103,968,110 - 104,007,490 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3103,968,110 - 104,024,598 (+)EnsemblGRCm38mm10GRCm38
MGSCv373103,772,033 - 103,811,413 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363104,097,319 - 104,136,551 (+)NCBIMGSCv36mm8
Celera3106,170,474 - 106,209,996 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map345.52NCBI
Phtf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82194,161,343 - 194,249,925 (+)NCBIGRCr8
mRatBN7.22191,470,849 - 191,537,399 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2191,473,130 - 191,512,078 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2199,069,880 - 199,108,666 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02196,942,616 - 196,981,402 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02191,759,582 - 191,798,367 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02206,452,115 - 206,518,387 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2206,454,208 - 206,493,030 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02225,875,915 - 225,939,872 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42199,202,647 - 199,241,476 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12199,165,394 - 199,180,520 (+)NCBI
Celera2183,944,349 - 183,983,177 (+)NCBICelera
Cytogenetic Map2q34NCBI
Phtf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543516,975,856 - 17,025,861 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543516,972,120 - 17,025,861 (-)NCBIChiLan1.0ChiLan1.0
PHTF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21106,355,814 - 106,418,744 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11105,949,211 - 106,013,480 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0188,796,456 - 88,860,464 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11123,844,587 - 123,906,786 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1123,845,818 - 123,906,285 (+)Ensemblpanpan1.1panPan2
PHTF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11751,529,981 - 51,573,748 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1751,530,346 - 51,573,287 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1751,181,790 - 51,225,448 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01752,408,517 - 52,452,102 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1752,408,523 - 52,451,707 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11751,411,062 - 51,459,587 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01751,483,301 - 51,527,032 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01752,056,526 - 52,100,236 (-)NCBIUU_Cfam_GSD_1.0
Phtf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505815,349,594 - 15,386,304 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366902,091,424 - 2,128,561 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366902,091,427 - 2,129,758 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHTF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4106,809,391 - 106,876,846 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14106,808,926 - 106,885,987 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24116,955,869 - 117,030,674 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PHTF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12019,910,090 - 19,969,395 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603822,680,803 - 22,741,978 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phtf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247729,377,777 - 9,415,681 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247729,370,231 - 9,415,942 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PHTF1
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001323043.2(PHTF1):c.374T>G (p.Ile125Arg) single nucleotide variant not specified [RCV004288140] Chr1:113726532 [GRCh38]
Chr1:114269154 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3 copy number gain See cases [RCV000512362] Chr1:114011163..114803749 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1973dup (p.Leu658fs) duplication not provided [RCV000626277] Chr1:113700866..113700867 [GRCh38]
Chr1:114243488..114243489 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p13.2(chr1:114209101-114831532)x3 copy number gain not provided [RCV000749141] Chr1:114209101..114831532 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p13.2(chr1:114243899-114273241)x3 copy number gain not provided [RCV000749142] Chr1:114243899..114273241 [GRCh37]
Chr1:1p13.2		 benign
GRCh37/hg19 1p13.2(chr1:114270738-114287902)x0 copy number loss not provided [RCV000749143] Chr1:114270738..114287902 [GRCh37]
Chr1:1p13.2		 benign
NC_000001.10:g.(?_113456513)_(116311162_?)dup duplication RASopathy [RCV003107709] Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1		 uncertain significance
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 copy number loss not provided [RCV001005130] Chr1:114024461..116189135 [GRCh37]
Chr1:1p13.2-13.1		 likely pathogenic
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2		 pathogenic
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_001323043.2(PHTF1):c.224G>A (p.Arg75Gln) single nucleotide variant not specified [RCV004138661] Chr1:113738217 [GRCh38]
Chr1:114280839 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.13G>A (p.Glu5Lys) single nucleotide variant not specified [RCV004151618] Chr1:113758691 [GRCh38]
Chr1:114301313 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.2077C>T (p.Pro693Ser) single nucleotide variant not specified [RCV004164362] Chr1:113699769 [GRCh38]
Chr1:114242391 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1490T>C (p.Phe497Ser) single nucleotide variant not specified [RCV004194442] Chr1:113706071 [GRCh38]
Chr1:114248693 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1484G>A (p.Arg495Gln) single nucleotide variant not specified [RCV004149570] Chr1:113706077 [GRCh38]
Chr1:114248699 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.185C>T (p.Ala62Val) single nucleotide variant not specified [RCV004227936] Chr1:113738256 [GRCh38]
Chr1:114280878 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1558G>T (p.Ala520Ser) single nucleotide variant not specified [RCV004205374] Chr1:113706003 [GRCh38]
Chr1:114248625 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1525T>G (p.Ser509Ala) single nucleotide variant not specified [RCV004139618] Chr1:113706036 [GRCh38]
Chr1:114248658 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.568A>G (p.Thr190Ala) single nucleotide variant not specified [RCV004199807] Chr1:113724814 [GRCh38]
Chr1:114267436 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1573C>T (p.Pro525Ser) single nucleotide variant not specified [RCV004157096] Chr1:113705988 [GRCh38]
Chr1:114248610 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.897T>G (p.Ser299Arg) single nucleotide variant not specified [RCV004220745] Chr1:113712000 [GRCh38]
Chr1:114254622 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1629G>T (p.Met543Ile) single nucleotide variant not specified [RCV004161407] Chr1:113705932 [GRCh38]
Chr1:114248554 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1280T>C (p.Phe427Ser) single nucleotide variant not specified [RCV004144527] Chr1:113706712 [GRCh38]
Chr1:114249334 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.2197A>C (p.Asn733His) single nucleotide variant not specified [RCV004225659] Chr1:113698333 [GRCh38]
Chr1:114240955 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1498A>G (p.Lys500Glu) single nucleotide variant not specified [RCV004112161] Chr1:113706063 [GRCh38]
Chr1:114248685 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.592G>C (p.Gly198Arg) single nucleotide variant not specified [RCV004173486] Chr1:113724790 [GRCh38]
Chr1:114267412 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1726A>G (p.Lys576Glu) single nucleotide variant not specified [RCV004108753] Chr1:113704743 [GRCh38]
Chr1:114247365 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1493G>A (p.Arg498His) single nucleotide variant not specified [RCV004199871] Chr1:113706068 [GRCh38]
Chr1:114248690 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1447G>A (p.Val483Ile) single nucleotide variant not specified [RCV004092767] Chr1:113706114 [GRCh38]
Chr1:114248736 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1502G>T (p.Ser501Ile) single nucleotide variant not specified [RCV004141108] Chr1:113706059 [GRCh38]
Chr1:114248681 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1978C>T (p.Arg660Cys) single nucleotide variant not specified [RCV004164702] Chr1:113700862 [GRCh38]
Chr1:114243484 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.970A>G (p.Thr324Ala) single nucleotide variant not specified [RCV004116056] Chr1:113711823 [GRCh38]
Chr1:114254445 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.989T>C (p.Ile330Thr) single nucleotide variant not specified [RCV004290515] Chr1:113711804 [GRCh38]
Chr1:114254426 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.257T>G (p.Leu86Trp) single nucleotide variant not specified [RCV004271719] Chr1:113738184 [GRCh38]
Chr1:114280806 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.2239A>G (p.Ile747Val) single nucleotide variant not specified [RCV004278163] Chr1:113698291 [GRCh38]
Chr1:114240913 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1153G>T (p.Asp385Tyr) single nucleotide variant not specified [RCV004329856] Chr1:113710370 [GRCh38]
Chr1:114252992 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1		 pathogenic
GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3 copy number gain not provided [RCV003484031] Chr1:114121742..114665485 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1620T>G (p.Leu540=) single nucleotide variant not provided [RCV003406677] Chr1:113705941 [GRCh38]
Chr1:114248563 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001323043.2(PHTF1):c.2083A>G (p.Lys695Glu) single nucleotide variant not specified [RCV004501391] Chr1:113699763 [GRCh38]
Chr1:114242385 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.765T>A (p.Asp255Glu) single nucleotide variant not specified [RCV004501401] Chr1:113713297 [GRCh38]
Chr1:114255919 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1067G>A (p.Ser356Asn) single nucleotide variant not specified [RCV004501386] Chr1:113710456 [GRCh38]
Chr1:114253078 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1553G>A (p.Cys518Tyr) single nucleotide variant not specified [RCV004501388] Chr1:113706008 [GRCh38]
Chr1:114248630 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1648G>A (p.Val550Met) single nucleotide variant not specified [RCV004501389] Chr1:113705913 [GRCh38]
Chr1:114248535 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.373A>C (p.Ile125Leu) single nucleotide variant not specified [RCV004501395] Chr1:113726533 [GRCh38]
Chr1:114269155 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.695T>A (p.Ile232Asn) single nucleotide variant not specified [RCV004501400] Chr1:113713367 [GRCh38]
Chr1:114255989 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.2186C>A (p.Pro729His) single nucleotide variant not specified [RCV004501393] Chr1:113698344 [GRCh38]
Chr1:114240966 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.2021A>G (p.Asn674Ser) single nucleotide variant not specified [RCV004501390] Chr1:113700819 [GRCh38]
Chr1:114243441 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1443T>A (p.Asn481Lys) single nucleotide variant not specified [RCV004501387] Chr1:113706118 [GRCh38]
Chr1:114248740 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.2111A>G (p.Asn704Ser) single nucleotide variant not specified [RCV004501392] Chr1:113699735 [GRCh38]
Chr1:114242357 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.304T>G (p.Trp102Gly) single nucleotide variant not specified [RCV004501394] Chr1:113738137 [GRCh38]
Chr1:114280759 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.607A>T (p.Thr203Ser) single nucleotide variant not specified [RCV004501398] Chr1:113724775 [GRCh38]
Chr1:114267397 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.851G>C (p.Arg284Pro) single nucleotide variant not specified [RCV004501402] Chr1:113712046 [GRCh38]
Chr1:114254668 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.655G>A (p.Gly219Arg) single nucleotide variant not specified [RCV004501399] Chr1:113713407 [GRCh38]
Chr1:114256029 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.22G>A (p.Ala8Thr) single nucleotide variant not specified [RCV004140794] Chr1:113758682 [GRCh38]
Chr1:114301304 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.1789C>T (p.Arg597Cys) single nucleotide variant not specified [RCV004283707] Chr1:113704680 [GRCh38]
Chr1:114247302 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.994C>T (p.Arg332Trp) single nucleotide variant not specified [RCV004251887] Chr1:113711799 [GRCh38]
Chr1:114254421 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.797G>A (p.Arg266His) single nucleotide variant not specified [RCV004338967] Chr1:113712100 [GRCh38]
Chr1:114254722 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.134A>T (p.His45Leu) single nucleotide variant not specified [RCV004336604] Chr1:113738768 [GRCh38]
Chr1:114281390 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001323043.2(PHTF1):c.606G>T (p.Glu202Asp) single nucleotide variant not specified [RCV004501397] Chr1:113724776 [GRCh38]
Chr1:114267398 [GRCh37]
Chr1:1p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1917
Count of miRNA genes:707
Interacting mature miRNAs:814
Transcripts:ENST00000357783, ENST00000369596, ENST00000369598, ENST00000369600, ENST00000369604, ENST00000393357, ENST00000412670, ENST00000446739, ENST00000447664, ENST00000472612, ENST00000474926, ENST00000481652, ENST00000486855, ENST00000493212
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
AL033778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371114,243,147 - 114,243,302UniSTSGRCh37
Build 361114,044,670 - 114,044,825RGDNCBI36
Celera1112,472,361 - 112,472,516RGD
Cytogenetic Map1p13UniSTS
HuRef1112,100,708 - 112,100,863UniSTS
RH102791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371114,286,975 - 114,287,102UniSTSGRCh37
Build 361114,088,498 - 114,088,625RGDNCBI36
Celera1112,516,187 - 112,516,314RGD
Cytogenetic Map1p13UniSTS
HuRef1112,145,096 - 112,145,223UniSTS
GeneMap99-GB4 RH Map1369.41UniSTS
SHGC-75358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371114,239,831 - 114,239,980UniSTSGRCh37
Build 361114,041,354 - 114,041,503RGDNCBI36
Celera1112,469,058 - 112,469,207RGD
Cytogenetic Map1p13UniSTS
HuRef1112,097,405 - 112,097,554UniSTS
TNG Radiation Hybrid Map162151.0UniSTS
GeneMap99-GB4 RH Map1371.65UniSTS
Whitehead-RH Map1420.3UniSTS
SHGC-75355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371114,239,906 - 114,240,028UniSTSGRCh37
Build 361114,041,429 - 114,041,551RGDNCBI36
Celera1112,469,133 - 112,469,255RGD
Cytogenetic Map1p13UniSTS
HuRef1112,097,480 - 112,097,602UniSTS
TNG Radiation Hybrid Map162154.0UniSTS
GeneMap99-GB4 RH Map1371.25UniSTS
D1S3609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371114,239,851 - 114,239,996UniSTSGRCh37
Build 361114,041,374 - 114,041,519RGDNCBI36
Celera1112,469,078 - 112,469,223RGD
Cytogenetic Map1p13UniSTS
HuRef1112,097,425 - 112,097,570UniSTS


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 50 216 245 19 820 22 262 53 898 83 570 259 7 2 1
Low 2385 2730 1481 604 1124 443 4077 2097 2828 335 886 1353 166 1 1202 2776 6 1
Below cutoff 3 43 7 17 45 8 1 3 1 11

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ011863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX763183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA728266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357783   ⟹   ENSP00000350428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,703,823 - 113,759,476 (-)Ensembl
RefSeq Acc Id: ENST00000369598   ⟹   ENSP00000358611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,697,205 - 113,759,338 (-)Ensembl
RefSeq Acc Id: ENST00000369600   ⟹   ENSP00000358613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,697,205 - 113,759,437 (-)Ensembl
RefSeq Acc Id: ENST00000369604   ⟹   ENSP00000358617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,696,831 - 113,759,486 (-)Ensembl
RefSeq Acc Id: ENST00000393357   ⟹   ENSP00000377025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,697,202 - 113,759,155 (-)Ensembl
RefSeq Acc Id: ENST00000412670   ⟹   ENSP00000416810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,705,765 - 113,713,328 (-)Ensembl
RefSeq Acc Id: ENST00000446739   ⟹   ENSP00000404690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,738,126 - 113,759,158 (-)Ensembl
RefSeq Acc Id: ENST00000472612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,725,335 - 113,738,268 (-)Ensembl
RefSeq Acc Id: ENST00000474926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,696,831 - 113,715,212 (-)Ensembl
RefSeq Acc Id: ENST00000481652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,699,875 - 113,705,981 (-)Ensembl
RefSeq Acc Id: ENST00000486855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,725,669 - 113,738,786 (-)Ensembl
RefSeq Acc Id: ENST00000493212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,749,522 - 113,759,489 (-)Ensembl
RefSeq Acc Id: NM_001323041   ⟹   NP_001309970
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323042   ⟹   NP_001309971
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,888 (-)NCBI
CHM1_11114,354,668 - 114,417,352 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,550 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323043   ⟹   NP_001309972
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323044   ⟹   NP_001309973
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323045   ⟹   NP_001309974
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323046   ⟹   NP_001309975
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323047   ⟹   NP_001309976
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,703,820 - 113,759,486 (-)NCBI
CHM1_11114,361,307 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,715,460 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323048   ⟹   NP_001309977
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,703,820 - 113,759,486 (-)NCBI
CHM1_11114,361,307 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,715,460 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323049   ⟹   NP_001309978
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,703,820 - 113,759,486 (-)NCBI
CHM1_11114,361,307 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,715,460 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323050   ⟹   NP_001309979
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,703,820 - 113,759,486 (-)NCBI
CHM1_11114,361,307 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,715,460 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323051   ⟹   NP_001309980
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,705,765 - 113,759,486 (-)NCBI
CHM1_11114,363,251 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,717,405 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323052   ⟹   NP_001309981
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,705,765 - 113,759,486 (-)NCBI
CHM1_11114,363,251 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,717,405 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323053   ⟹   NP_001309982
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,705,765 - 113,759,486 (-)NCBI
CHM1_11114,363,251 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,717,405 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006608   ⟹   NP_006599
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
GRCh371114,239,824 - 114,302,165 (-)NCBI
Build 361114,041,360 - 114,102,879 (-)NCBI Archive
Celera1112,469,051 - 112,531,003 (-)RGD
HuRef1112,097,398 - 112,159,913 (-)RGD
CHM1_11114,354,665 - 114,416,622 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136564
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136565
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136566
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136567
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,696,831 - 113,759,486 (-)NCBI
CHM1_11114,354,668 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,708,467 - 113,771,148 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136568
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,703,820 - 113,759,486 (-)NCBI
CHM1_11114,361,307 - 114,417,004 (-)NCBI
T2T-CHM13v2.01113,715,460 - 113,771,148 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001309970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309971 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309974 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309975 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309976 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309977 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309978 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309979 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309980 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309981 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309982 (Get FASTA)   NCBI Sequence Viewer  
  NP_006599 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH00842 (Get FASTA)   NCBI Sequence Viewer  
  AAH02447 (Get FASTA)   NCBI Sequence Viewer  
  BAG57889 (Get FASTA)   NCBI Sequence Viewer  
  CAB51572 (Get FASTA)   NCBI Sequence Viewer  
  EAW56566 (Get FASTA)   NCBI Sequence Viewer  
  EAW56567 (Get FASTA)   NCBI Sequence Viewer  
  EAW56568 (Get FASTA)   NCBI Sequence Viewer  
  EAW56569 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000350428
  ENSP00000350428.2
  ENSP00000358611.1
  ENSP00000358613.1
  ENSP00000358617
  ENSP00000358617.1
  ENSP00000377025
  ENSP00000377025.2
  ENSP00000404690.1
  ENSP00000416810.1
GenBank Protein Q9UMS5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006599   ⟸   NM_006608
- Peptide Label: isoform a
- UniProtKB: Q9BUP2 (UniProtKB/Swiss-Prot),   Q5VWP8 (UniProtKB/Swiss-Prot),   Q5VWP7 (UniProtKB/Swiss-Prot),   Q9H1X8 (UniProtKB/Swiss-Prot),   Q9UMS5 (UniProtKB/Swiss-Prot),   Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309971   ⟸   NM_001323042
- Peptide Label: isoform a
- UniProtKB: Q9BUP2 (UniProtKB/Swiss-Prot),   Q5VWP8 (UniProtKB/Swiss-Prot),   Q5VWP7 (UniProtKB/Swiss-Prot),   Q9H1X8 (UniProtKB/Swiss-Prot),   Q9UMS5 (UniProtKB/Swiss-Prot),   Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309975   ⟸   NM_001323046
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001309972   ⟸   NM_001323043
- Peptide Label: isoform a
- UniProtKB: Q9BUP2 (UniProtKB/Swiss-Prot),   Q5VWP8 (UniProtKB/Swiss-Prot),   Q5VWP7 (UniProtKB/Swiss-Prot),   Q9H1X8 (UniProtKB/Swiss-Prot),   Q9UMS5 (UniProtKB/Swiss-Prot),   Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309974   ⟸   NM_001323045
- Peptide Label: isoform b
- UniProtKB: Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309970   ⟸   NM_001323041
- Peptide Label: isoform a
- UniProtKB: Q9BUP2 (UniProtKB/Swiss-Prot),   Q5VWP8 (UniProtKB/Swiss-Prot),   Q5VWP7 (UniProtKB/Swiss-Prot),   Q9H1X8 (UniProtKB/Swiss-Prot),   Q9UMS5 (UniProtKB/Swiss-Prot),   Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309973   ⟸   NM_001323044
- Peptide Label: isoform b
- UniProtKB: Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309977   ⟸   NM_001323048
- Peptide Label: isoform d
- UniProtKB: Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309979   ⟸   NM_001323050
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001309976   ⟸   NM_001323047
- Peptide Label: isoform d
- UniProtKB: Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309978   ⟸   NM_001323049
- Peptide Label: isoform d
- UniProtKB: Q5TCQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309981   ⟸   NM_001323052
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001309982   ⟸   NM_001323053
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001309980   ⟸   NM_001323051
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: ENSP00000416810   ⟸   ENST00000412670
RefSeq Acc Id: ENSP00000404690   ⟸   ENST00000446739
RefSeq Acc Id: ENSP00000377025   ⟸   ENST00000393357
RefSeq Acc Id: ENSP00000358611   ⟸   ENST00000369598
RefSeq Acc Id: ENSP00000358613   ⟸   ENST00000369600
RefSeq Acc Id: ENSP00000358617   ⟸   ENST00000369604
RefSeq Acc Id: ENSP00000350428   ⟸   ENST00000357783
Protein Domains
PHTF   PHTF1/2 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UMS5-F1-model_v2 AlphaFold Q9UMS5 1-762 view protein structure

Promoters
RGD ID:6856682
Promoter ID:EPDNEW_H1505
Type:initiation region
Name:PHTF1_2
Description:putative homeodomain transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,759,166 - 113,759,226EPDNEW
RGD ID:6856684
Promoter ID:EPDNEW_H1506
Type:initiation region
Name:PHTF1_1
Description:putative homeodomain transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1505  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,759,486 - 113,759,546EPDNEW
RGD ID:6785987
Promoter ID:HG_KWN:4202
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:ENST00000357783,   ENST00000369596,   ENST00000369597,   ENST00000369598,   ENST00000369600,   ENST00000369604,   ENST00000393357,   NM_006608,   OTTHUMT00000032670,   OTTHUMT00000032671,   UC001EDP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361114,102,886 - 114,103,787 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8939 AgrOrtholog
COSMIC PHTF1 COSMIC
Ensembl Genes ENSG00000116793 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357783 ENTREZGENE
  ENST00000357783.6 UniProtKB/Swiss-Prot
  ENST00000369598.5 UniProtKB/TrEMBL
  ENST00000369600.5 UniProtKB/TrEMBL
  ENST00000369604 ENTREZGENE
  ENST00000369604.6 UniProtKB/Swiss-Prot
  ENST00000393357 ENTREZGENE
  ENST00000393357.6 UniProtKB/Swiss-Prot
  ENST00000412670.1 UniProtKB/TrEMBL
  ENST00000446739.1 UniProtKB/TrEMBL
GTEx ENSG00000116793 GTEx
HGNC ID HGNC:8939 ENTREZGENE
Human Proteome Map PHTF1 Human Proteome Map
InterPro PHTF1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_homeodomain_male UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10745 UniProtKB/Swiss-Prot
NCBI Gene 10745 ENTREZGENE
OMIM 604950 OMIM
PANTHER PROTEIN PHTF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12680 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Phtf-FEM1B_bdg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33278 PharmGKB
UniProt F6T5D1_HUMAN UniProtKB/TrEMBL
  H0Y825_HUMAN UniProtKB/TrEMBL
  PHTF1_HUMAN UniProtKB/Swiss-Prot
  Q5TCQ3_HUMAN UniProtKB/TrEMBL
  Q5TCQ5 ENTREZGENE, UniProtKB/TrEMBL
  Q5VWP7 ENTREZGENE
  Q5VWP8 ENTREZGENE
  Q9BUP2 ENTREZGENE
  Q9H1X8 ENTREZGENE
  Q9UMS5 ENTREZGENE
UniProt Secondary Q5VWP7 UniProtKB/Swiss-Prot
  Q5VWP8 UniProtKB/Swiss-Prot
  Q9BUP2 UniProtKB/Swiss-Prot
  Q9H1X8 UniProtKB/Swiss-Prot