PHF23 (PHD finger protein 23) - Rat Genome Database

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Gene: PHF23 (PHD finger protein 23) Homo sapiens
Analyze
Symbol: PHF23
Name: PHD finger protein 23
RGD ID: 1601853
HGNC Page HGNC:28428
Description: Predicted to enable metal ion binding activity. Involved in negative regulation of autophagosome assembly; negative regulation of autophagosome maturation; and positive regulation of protein ubiquitination. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ16355; FLJ22884; hJUNE-1b; MGC2941; PDH-containing protein JUNE-1; PHD finger protein 23a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,235,038 - 7,240,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,235,029 - 7,239,722 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,138,357 - 7,142,776 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,079,071 - 7,083,549 (-)NCBINCBI36Build 36hg18NCBI36
Celera177,162,996 - 7,167,472 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,030,142 - 7,034,231 (-)NCBIHuRef
CHM1_1177,147,095 - 7,151,617 (-)NCBICHM1_1
T2T-CHM13v2.0177,135,965 - 7,140,642 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12477932   PMID:14702039   PMID:16169070   PMID:16344560   PMID:17207965   PMID:17287853   PMID:21873635   PMID:22286219   PMID:24981860   PMID:25484098   PMID:25609649   PMID:25640309  
PMID:26186194   PMID:28514442   PMID:31391242   PMID:32416067   PMID:32620764   PMID:32694731   PMID:32814053   PMID:33742100   PMID:33961781   PMID:34373451   PMID:35044719   PMID:35140242  
PMID:35256949   PMID:35271311   PMID:35831314   PMID:35944360   PMID:37506885   PMID:37626047  


Genomics

Comparative Map Data
PHF23
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,235,038 - 7,240,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,235,029 - 7,239,722 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,138,357 - 7,142,776 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,079,071 - 7,083,549 (-)NCBINCBI36Build 36hg18NCBI36
Celera177,162,996 - 7,167,472 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,030,142 - 7,034,231 (-)NCBIHuRef
CHM1_1177,147,095 - 7,151,617 (-)NCBICHM1_1
T2T-CHM13v2.0177,135,965 - 7,140,642 (-)NCBIT2T-CHM13v2.0
Phf23
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,886,592 - 69,890,837 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,886,603 - 69,890,835 (+)EnsemblGRCm39 Ensembl
GRCm381169,995,766 - 70,000,011 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,995,777 - 70,000,009 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,809,273 - 69,813,513 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,811,972 - 69,816,111 (+)NCBIMGSCv36mm8
Celera1177,543,581 - 77,547,821 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.95NCBI
Phf23
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,217,351 - 55,221,471 (+)NCBIGRCr8
mRatBN7.21054,718,663 - 54,722,784 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,717,724 - 54,722,782 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,380,855 - 59,384,975 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,869,435 - 58,873,555 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,376,707 - 54,380,824 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,605,078 - 56,609,236 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,605,140 - 56,609,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,350,190 - 56,354,355 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,841,624 - 56,846,146 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,855,246 - 56,859,768 (+)NCBI
Celera1053,872,270 - 53,876,378 (+)NCBICelera
Cytogenetic Map10q24NCBI
Phf23
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,671,133 - 9,675,434 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,671,133 - 9,675,434 (+)NCBIChiLan1.0ChiLan1.0
PHF23
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,827,723 - 14,832,176 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,793,726 - 16,798,161 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,264,944 - 7,269,549 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,252,024 - 7,256,756 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,252,024 - 7,256,756 (-)Ensemblpanpan1.1panPan2
PHF23
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,202,636 - 32,207,738 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,202,825 - 32,207,000 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,340,941 - 32,346,052 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,308,259 - 32,313,378 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,308,262 - 32,312,683 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,273,557 - 32,278,662 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,232,584 - 32,237,690 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,409,527 - 32,414,643 (-)NCBIUU_Cfam_GSD_1.0
Phf23
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,054,644 - 47,059,100 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595528,516 - 533,235 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595528,832 - 533,212 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHF23
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,590,804 - 52,595,266 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,590,801 - 52,595,208 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,845,281 - 54,847,896 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PHF23
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,609,106 - 6,613,693 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,609,087 - 6,613,690 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,797,196 - 14,801,651 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phf23
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247869,852,366 - 9,856,524 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247869,852,151 - 9,856,541 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PHF23
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3 copy number gain Breast ductal adenocarcinoma [RCV000207224] Chr17:7120452..7165252 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3 copy number gain Breast ductal adenocarcinoma [RCV000207305] Chr17:7121580..7186623 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
Single allele duplication Isolated Pierre-Robin syndrome [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_024297.3(PHF23):c.683G>A (p.Arg228Gln) single nucleotide variant Inborn genetic diseases [RCV003270582] Chr17:7236244 [GRCh38]
Chr17:7139563 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.688G>T (p.Asp230Tyr) single nucleotide variant Inborn genetic diseases [RCV003292967] Chr17:7236239 [GRCh38]
Chr17:7139558 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3 copy number gain not provided [RCV002474897] Chr17:7043719..7193448 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.377C>A (p.Thr126Asn) single nucleotide variant Inborn genetic diseases [RCV002859333] Chr17:7236550 [GRCh38]
Chr17:7139869 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.850C>T (p.Pro284Ser) single nucleotide variant Inborn genetic diseases [RCV002773573] Chr17:7236077 [GRCh38]
Chr17:7139396 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.1170G>C (p.Glu390Asp) single nucleotide variant Inborn genetic diseases [RCV002817029] Chr17:7235668 [GRCh38]
Chr17:7138987 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.738C>G (p.Asp246Glu) single nucleotide variant Inborn genetic diseases [RCV002882811] Chr17:7236189 [GRCh38]
Chr17:7139508 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.59A>G (p.Glu20Gly) single nucleotide variant Inborn genetic diseases [RCV002980121] Chr17:7237636 [GRCh38]
Chr17:7140955 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.1118C>A (p.Thr373Asn) single nucleotide variant Inborn genetic diseases [RCV002757318] Chr17:7235720 [GRCh38]
Chr17:7139039 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.787G>A (p.Ala263Thr) single nucleotide variant Inborn genetic diseases [RCV002853834] Chr17:7236140 [GRCh38]
Chr17:7139459 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.458C>T (p.Ser153Phe) single nucleotide variant Inborn genetic diseases [RCV002919424] Chr17:7236469 [GRCh38]
Chr17:7139788 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.583G>A (p.Gly195Ser) single nucleotide variant Inborn genetic diseases [RCV002893747] Chr17:7236344 [GRCh38]
Chr17:7139663 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.250C>T (p.Leu84Phe) single nucleotide variant Inborn genetic diseases [RCV002674796] Chr17:7236677 [GRCh38]
Chr17:7139996 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.92T>C (p.Ile31Thr) single nucleotide variant Inborn genetic diseases [RCV003190182] Chr17:7237452 [GRCh38]
Chr17:7140771 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.364C>T (p.Pro122Ser) single nucleotide variant Inborn genetic diseases [RCV003174620] Chr17:7236563 [GRCh38]
Chr17:7139882 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_024297.3(PHF23):c.352C>T (p.Arg118Cys) single nucleotide variant Inborn genetic diseases [RCV003219591] Chr17:7236575 [GRCh38]
Chr17:7139894 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_024297.3(PHF23):c.814G>C (p.Val272Leu) single nucleotide variant Inborn genetic diseases [RCV003377359] Chr17:7236113 [GRCh38]
Chr17:7139432 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_024297.3(PHF23):c.721C>T (p.Pro241Ser) single nucleotide variant Inborn genetic diseases [RCV003347347] Chr17:7236206 [GRCh38]
Chr17:7139525 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Ehsa-let-7e-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3620
Count of miRNA genes:822
Interacting mature miRNAs:982
Transcripts:ENST00000320316, ENST00000454255, ENST00000570753, ENST00000570899, ENST00000571362, ENST00000572789, ENST00000573826, ENST00000574236, ENST00000574323, ENST00000574407, ENST00000574899, ENST00000576955
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
RH11492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,138,763 - 7,138,901UniSTSGRCh37
Build 36177,079,487 - 7,079,625RGDNCBI36
Celera177,163,412 - 7,163,550RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,030,558 - 7,030,696UniSTS
GeneMap99-GB4 RH Map1745.52UniSTS
NCBI RH Map1796.2UniSTS
RH26918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,143,924 - 7,144,034UniSTSGRCh37
Build 36177,084,648 - 7,084,758RGDNCBI36
Celera177,168,571 - 7,168,681RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,035,330 - 7,035,440UniSTS
G62047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,143,932 - 7,144,072UniSTSGRCh37
Build 36177,084,656 - 7,084,796RGDNCBI36
Celera177,168,579 - 7,168,719RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,035,338 - 7,035,478UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2347 2271 1594 485 1874 341 3932 1436 2977 378 1447 1598 157 1189 2388 4
Low 85 713 129 137 74 123 423 757 731 40 1 10 14 15 400
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC120057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI129084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY099328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY994418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA131173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF071959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320316   ⟹   ENSP00000322579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,235,038 - 7,239,457 (-)Ensembl
RefSeq Acc Id: ENST00000454255   ⟹   ENSP00000414607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,235,287 - 7,238,930 (-)Ensembl
RefSeq Acc Id: ENST00000570753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,617 - 7,237,794 (-)Ensembl
RefSeq Acc Id: ENST00000570899   ⟹   ENSP00000458416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,381 - 7,239,722 (-)Ensembl
RefSeq Acc Id: ENST00000571362   ⟹   ENSP00000460738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,235,029 - 7,239,439 (-)Ensembl
RefSeq Acc Id: ENST00000572789   ⟹   ENSP00000460876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,235,934 - 7,238,258 (-)Ensembl
RefSeq Acc Id: ENST00000573826   ⟹   ENSP00000461442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,290 - 7,238,882 (-)Ensembl
RefSeq Acc Id: ENST00000574236   ⟹   ENSP00000458401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,429 - 7,238,171 (-)Ensembl
RefSeq Acc Id: ENST00000574323   ⟹   ENSP00000459983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,359 - 7,238,715 (-)Ensembl
RefSeq Acc Id: ENST00000574407   ⟹   ENSP00000459904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,519 - 7,238,577 (-)Ensembl
RefSeq Acc Id: ENST00000574899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,236,637 - 7,238,171 (-)Ensembl
RefSeq Acc Id: ENST00000576955   ⟹   ENSP00000458953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,235,038 - 7,239,455 (-)Ensembl
RefSeq Acc Id: ENST00000613632   ⟹   ENSP00000479592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,235,626 - 7,239,279 (-)Ensembl
RefSeq Acc Id: NM_001284517   ⟹   NP_001271446
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,239,457 (-)NCBI
HuRef177,030,142 - 7,034,231 (-)NCBI
CHM1_1177,147,095 - 7,151,617 (-)NCBI
T2T-CHM13v2.0177,135,965 - 7,140,382 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284518   ⟹   NP_001271447
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,238,930 (-)NCBI
HuRef177,030,142 - 7,034,231 (-)NCBI
CHM1_1177,147,095 - 7,151,041 (-)NCBI
T2T-CHM13v2.0177,135,965 - 7,139,855 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024297   ⟹   NP_077273
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,239,457 (-)NCBI
GRCh37177,138,347 - 7,142,825 (-)RGD
GRCh37177,138,347 - 7,142,825 (-)NCBI
Build 36177,079,071 - 7,083,549 (-)NCBI Archive
Celera177,162,996 - 7,167,472 (-)RGD
HuRef177,030,142 - 7,034,231 (-)RGD
CHM1_1177,147,095 - 7,151,617 (-)NCBI
T2T-CHM13v2.0177,135,965 - 7,140,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450938   ⟹   XP_024306706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,240,828 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450939   ⟹   XP_024306707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,238,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450940   ⟹   XP_024306708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,238,488 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450942   ⟹   XP_024306710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,238,801 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436728   ⟹   XP_047292684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,240,828 (-)NCBI
RefSeq Acc Id: XM_047436729   ⟹   XP_047292685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,238,606 (-)NCBI
RefSeq Acc Id: XM_047436730   ⟹   XP_047292686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,235,038 - 7,237,946 (-)NCBI
RefSeq Acc Id: XM_054317168   ⟹   XP_054173143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,135,965 - 7,140,642 (-)NCBI
RefSeq Acc Id: XM_054317169   ⟹   XP_054173144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,135,965 - 7,139,531 (-)NCBI
RefSeq Acc Id: XM_054317170   ⟹   XP_054173145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,135,965 - 7,139,413 (-)NCBI
RefSeq Acc Id: XM_054317171   ⟹   XP_054173146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,135,965 - 7,138,873 (-)NCBI
RefSeq Acc Id: XM_054317172   ⟹   XP_054173147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,135,965 - 7,139,726 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001271446 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271447 (Get FASTA)   NCBI Sequence Viewer  
  NP_077273 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306706 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306707 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306708 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306710 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292684 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292685 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292686 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173147 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02509 (Get FASTA)   NCBI Sequence Viewer  
  AAH08630 (Get FASTA)   NCBI Sequence Viewer  
  AAM44129 (Get FASTA)   NCBI Sequence Viewer  
  ABK59097 (Get FASTA)   NCBI Sequence Viewer  
  BAB15498 (Get FASTA)   NCBI Sequence Viewer  
  BAC11192 (Get FASTA)   NCBI Sequence Viewer  
  BAG53790 (Get FASTA)   NCBI Sequence Viewer  
  BAG59568 (Get FASTA)   NCBI Sequence Viewer  
  CAF86797 (Get FASTA)   NCBI Sequence Viewer  
  EAW90240 (Get FASTA)   NCBI Sequence Viewer  
  EAW90241 (Get FASTA)   NCBI Sequence Viewer  
  EAW90242 (Get FASTA)   NCBI Sequence Viewer  
  EAW90243 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000322579
  ENSP00000322579.3
  ENSP00000414607
  ENSP00000414607.2
  ENSP00000458401.1
  ENSP00000458416.1
  ENSP00000458953
  ENSP00000458953.1
  ENSP00000459983.1
  ENSP00000460738
  ENSP00000460738.1
  ENSP00000460876.1
  ENSP00000461442.1
  ENSP00000479592.1
GenBank Protein Q9BUL5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_077273   ⟸   NM_024297
- Peptide Label: isoform 1
- UniProtKB: Q96HG7 (UniProtKB/Swiss-Prot),   Q8IZK0 (UniProtKB/Swiss-Prot),   D3DTN4 (UniProtKB/Swiss-Prot),   B4DLK6 (UniProtKB/Swiss-Prot),   B3KVH8 (UniProtKB/Swiss-Prot),   A1DZ74 (UniProtKB/Swiss-Prot),   Q9H5X0 (UniProtKB/Swiss-Prot),   Q9BUL5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271446   ⟸   NM_001284517
- Peptide Label: isoform 2
- UniProtKB: Q9BUL5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271447   ⟸   NM_001284518
- Peptide Label: isoform 3
- UniProtKB: Q9BUL5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306706   ⟸   XM_024450938
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024306710   ⟸   XM_024450942
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306708   ⟸   XM_024450940
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306707   ⟸   XM_024450939
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000322579   ⟸   ENST00000320316
RefSeq Acc Id: ENSP00000458416   ⟸   ENST00000570899
RefSeq Acc Id: ENSP00000460738   ⟸   ENST00000571362
RefSeq Acc Id: ENSP00000460876   ⟸   ENST00000572789
RefSeq Acc Id: ENSP00000414607   ⟸   ENST00000454255
RefSeq Acc Id: ENSP00000461442   ⟸   ENST00000573826
RefSeq Acc Id: ENSP00000479592   ⟸   ENST00000613632
RefSeq Acc Id: ENSP00000458401   ⟸   ENST00000574236
RefSeq Acc Id: ENSP00000459983   ⟸   ENST00000574323
RefSeq Acc Id: ENSP00000459904   ⟸   ENST00000574407
RefSeq Acc Id: ENSP00000458953   ⟸   ENST00000576955
RefSeq Acc Id: XP_047292684   ⟸   XM_047436728
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292685   ⟸   XM_047436729
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292686   ⟸   XM_047436730
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173143   ⟸   XM_054317168
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173147   ⟸   XM_054317172
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173144   ⟸   XM_054317169
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173145   ⟸   XM_054317170
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173146   ⟸   XM_054317171
- Peptide Label: isoform X3
- UniProtKB: I3L1N0 (UniProtKB/TrEMBL)
Protein Domains
Zinc finger PHD-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BUL5-F1-model_v2 AlphaFold Q9BUL5 1-403 view protein structure

Promoters
RGD ID:6793985
Promoter ID:HG_KWN:24855
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000043410,   NM_024297,   UC010CMA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,083,424 - 7,083,924 (-)MPROMDB
RGD ID:7233653
Promoter ID:EPDNEW_H22572
Type:initiation region
Name:PHF23_2
Description:PHD finger protein 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,239,282 - 7,239,342EPDNEW
RGD ID:7233657
Promoter ID:EPDNEW_H22573
Type:initiation region
Name:PHF23_1
Description:PHD finger protein 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22572  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,239,439 - 7,239,499EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28428 AgrOrtholog
COSMIC PHF23 COSMIC
Ensembl Genes ENSG00000040633 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320316 ENTREZGENE
  ENST00000320316.8 UniProtKB/Swiss-Prot
  ENST00000454255 ENTREZGENE
  ENST00000454255.6 UniProtKB/Swiss-Prot
  ENST00000570899.1 UniProtKB/TrEMBL
  ENST00000571362 ENTREZGENE
  ENST00000571362.5 UniProtKB/Swiss-Prot
  ENST00000572789.5 UniProtKB/TrEMBL
  ENST00000573826.5 UniProtKB/TrEMBL
  ENST00000574236.5 UniProtKB/TrEMBL
  ENST00000574323.5 UniProtKB/TrEMBL
  ENST00000576955 ENTREZGENE
  ENST00000576955.5 UniProtKB/TrEMBL
  ENST00000613632.4 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000040633 GTEx
HGNC ID HGNC:28428 ENTREZGENE
Human Proteome Map PHF23 Human Proteome Map
InterPro Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79142 UniProtKB/Swiss-Prot
NCBI Gene 79142 ENTREZGENE
OMIM 612910 OMIM
PANTHER PHD FINGER PROTEIN 23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PHD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671175 PharmGKB
SMART PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVQ2_HUMAN UniProtKB/TrEMBL
  A1DZ74 ENTREZGENE
  B3KVH8 ENTREZGENE
  B4DLK6 ENTREZGENE
  D3DTN4 ENTREZGENE
  I3L0X3_HUMAN UniProtKB/TrEMBL
  I3L0Y2_HUMAN UniProtKB/TrEMBL
  I3L1N0 ENTREZGENE, UniProtKB/TrEMBL
  I3L2W6_HUMAN UniProtKB/TrEMBL
  I3L410_HUMAN UniProtKB/TrEMBL
  I3L4Q4_HUMAN UniProtKB/TrEMBL
  PHF23_HUMAN UniProtKB/Swiss-Prot
  Q8IZK0 ENTREZGENE
  Q96HG7 ENTREZGENE
  Q9BUL5 ENTREZGENE
  Q9H5X0 ENTREZGENE
UniProt Secondary A1DZ74 UniProtKB/Swiss-Prot
  B3KVH8 UniProtKB/Swiss-Prot
  B4DLK6 UniProtKB/Swiss-Prot
  D3DTN4 UniProtKB/Swiss-Prot
  Q8IZK0 UniProtKB/Swiss-Prot
  Q96HG7 UniProtKB/Swiss-Prot
  Q9H5X0 UniProtKB/Swiss-Prot