PHF10

Summary

PHF10 (PHD finger protein 10, HGNC:18250) is a protein-coding gene on chromosome 6q27, encoding PHD finger protein 10 (Q8WUB8). Involved in transcription activity regulation by chromatin remodeling.

This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28.

Source: NCBI Gene 55274 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 36 total — 1 pathogenic
• MANE Select transcript: NM_018288

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18250
Approved symbol	PHF10
Name	PHD finger protein 10
Location	6q27
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10975, XAP135, BAF45a, SMARCG4
Ensembl gene	ENSG00000130024
Ensembl biotype	protein_coding
OMIM	613069
Entrez	55274

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000339209, ENST00000366780, ENST00000464779, ENST00000480008, ENST00000612128, ENST00000621772, ENST00000885653, ENST00000885654, ENST00000885655, ENST00000930217, ENST00000965605, ENST00000965606

RefSeq mRNA: 2 — MANE Select: NM_018288 NM_018288, NM_133325

CCDS: CCDS5308, CCDS5309

Canonical transcript exons

ENST00000339209 — 12 exons

Exon	Start	End
ENSE00000893123	169705133	169705321
ENSE00000893124	169705616	169705724
ENSE00000893125	169710236	169710391
ENSE00000893127	169714733	169714842
ENSE00001953721	169723845	169724500
ENSE00003527955	169715708	169715857
ENSE00003533068	169712386	169712539
ENSE00003534299	169718788	169718918
ENSE00003571570	169715955	169716088
ENSE00003608788	169721005	169721111
ENSE00003652998	169717823	169717906
ENSE00003845233	169703902	169704088

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9486 / max 179.3176, expressed in 1732 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76795	6.2269	1594
76794	3.1595	1331
76798	0.2543	93
76799	0.2284	55
76793	0.0327	5
76797	0.0306	6
76796	0.0161	7

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.01	gold quality
ventricular zone	UBERON:0003053	97.65	gold quality
left ovary	UBERON:0002119	97.15	gold quality
right adrenal gland cortex	UBERON:0035827	96.56	gold quality
right ovary	UBERON:0002118	96.36	gold quality
left adrenal gland cortex	UBERON:0035825	96.21	gold quality
adrenal cortex	UBERON:0001235	96.10	gold quality
right adrenal gland	UBERON:0001233	96.04	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.03	gold quality
adrenal gland	UBERON:0002369	96.01	gold quality
left adrenal gland	UBERON:0001234	95.95	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.94	gold quality
mucosa of stomach	UBERON:0001199	95.81	gold quality
right lung	UBERON:0002167	95.73	gold quality
body of pancreas	UBERON:0001150	95.69	gold quality
tibial artery	UBERON:0007610	95.64	gold quality
spinal cord	UBERON:0002240	95.63	gold quality
popliteal artery	UBERON:0002250	95.63	gold quality
lower esophagus	UBERON:0013473	95.60	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.60	gold quality
right coronary artery	UBERON:0001625	95.56	gold quality
ovary	UBERON:0000992	95.41	gold quality
aorta	UBERON:0000947	95.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.32	gold quality
tibial nerve	UBERON:0001323	95.31	gold quality
right uterine tube	UBERON:0001302	95.26	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.14	gold quality
minor salivary gland	UBERON:0001830	95.10	gold quality
descending thoracic aorta	UBERON:0002345	95.10	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-100618	no	870.66
E-MTAB-7303	no	146.70
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
CASP3	Unknown
MIR409

Literature-anchored findings (GeneRIF, showing 11)

• Data show that that PHF10 is required for cell growth. (PMID:20068294)
• PHF10 repressed caspase-3 expression and impaired the programmed cell death pathway in human gastric cancer at the transcriptional level. (PMID:20530714)
• The study demonstrates the existence of functionally different PBAF complexes in mammalian cell. It also provides an insight into the molecular structure and role of human PHF10/BAF45a and characterizes it as an essential PBAF subunit. (PMID:24763304)
• We studied the expression of S100A4 and the total PHF10 protein in some human cancer cell lines. We have found that, in the cell lines studied, the PHF10 expression is correlated with the S100A4 expression. (PMID:27193724)
• Phosphorylation of PHF10 isoforms occurs while they are incorporated as a subunit of the PBAF complex, and therefore phosphorylation of PHF10 isoforms may play an essential role in regulation of PBAF complex’s function and mechanism of action. (PMID:27239853)
• Data show that PHF10 subunit of the PBAF signature module is the most unstable PBAF subunit, and demonstrate an important role of beta-TrCP ubiquitin ligase in regulation of PHF10 level and PBAF in general. Also, PHF10 isoforms contained two non-canonical beta-TrCP degrons and are degraded by beta-TrCP in a phospho-dependent manner. (PMID:28717195)
• PHF10 expression in cells of different lines is activated by the c-MYC oncogene. Since PHF10 stimulates cell proliferation, its c-MYC-dependent activation in cancer cells should lead to an increase in their proliferation rate. (PMID:31012017)
• The sequential phosphorylation of PHF10 subunit of the PBAF chromatin-remodeling complex determines different properties of the PHF10 isoforms. (PMID:31911482)
• PHF10 subunit of PBAF complex mediates transcriptional activation by MYC. (PMID:34465901)
• ZC3H13-mediated N6-methyladenosine modification of PHF10 is impaired by fisetin which inhibits the DNA damage response in pancreatic cancer. (PMID:35033590)
• Neuronal and Muscle Differentiation of Mammalian Cells Is Accompanied by a Change in PHF10 Isoform Expression. (PMID:38189889)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	phf10	ENSDARG00000070084
mus_musculus	Phf10	ENSMUSG00000023883
rattus_norvegicus	Phf10	ENSRNOG00000061312
drosophila_melanogaster	e(y)3	FBGN0087008
caenorhabditis_elegans		WBGENE00018013

Paralogs (9): DPF1 (ENSG00000011332), RSF1 (ENSG00000048649), KAT6A (ENSG00000083168), KAT8 (ENSG00000103510), DPF2 (ENSG00000133884), KAT7 (ENSG00000136504), KAT6B (ENSG00000156650), KAT5 (ENSG00000172977), DPF3 (ENSG00000205683)

Protein

Protein identifiers

PHD finger protein 10 — Q8WUB8 (reviewed: Q8WUB8)

Alternative names: BRG1-associated factor 45a, XAP135

All UniProt accessions (3): Q8WUB8, S5FMB0, S5FZ81

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcription activity regulation by chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth.

Subunit / interactions. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Interacts with ACTL6A/BAF53A, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A and PBRM1/BAF180.

Subcellular location. Nucleus.

Similarity. Belongs to the SAYP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WUB8-1	1	yes
Q8WUB8-2	2, B
Q8WUB8-3	3

RefSeq proteins (2): NP_060758, NP_579866 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001965	Znf_PHD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019787	Znf_PHD-finger	Domain
IPR038045	PHF10_PHD_finger_1	Domain

Pfam: PF00628

UniProt features (44 total): modified residue 9, sequence conflict 9, strand 5, region of interest 5, compositionally biased region 4, helix 3, zinc finger region 2, cross-link 2, splice variant 2, initiator methionine 1, chain 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7VDV	ELECTRON MICROSCOPY	3.4
7Y8R	ELECTRON MICROSCOPY	4.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUB8-F1	71.16	0.40

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (11): 2, 12, 36, 50, 270, 297, 301, 327, 331, 241, 385

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9933939	Formation of the polybromo-BAF (pBAF) complex
R-HSA-9933946	Formation of the embryonic stem cell BAF (esBAF) complex
R-HSA-9934037	Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)

MSigDB gene sets: 270 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_CHROMOSOME_ORGANIZATION, GCM_MAP4K4, HORIUCHI_WTAP_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, MORF_MSH3, GCM_GSPT1, MORF_BRCA1, MORF_ATRX, GOBP_CELL_CYCLE_PHASE_TRANSITION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORF_ESR1, MODULE_16, GOBP_REGULATION_OF_DNA_REPAIR

GO Biological Process (12): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), regulation of mitotic metaphase/anaphase transition (GO:0030071), positive regulation of T cell differentiation (GO:0045582), positive regulation of cell differentiation (GO:0045597), positive regulation of myoblast differentiation (GO:0045663), regulation of G0 to G1 transition (GO:0070316), positive regulation of stem cell population maintenance (GO:1902459), regulation of G1/S transition of mitotic cell cycle (GO:2000045), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819)

GO Molecular Function (6): chromatin binding (GO:0003682), transcription coregulator activity (GO:0003712), histone acetyltransferase activity (GO:0004402), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): kinetochore (GO:0000776), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear matrix (GO:0016363), SWI/SNF complex (GO:0016514), RSC-type complex (GO:0016586), npBAF complex (GO:0071564)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
SWI/SNF chromatin remodelers	3

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
SWI/SNF superfamily-type complex	3
regulation of mitotic cell cycle phase transition	2
positive regulation of developmental process	2
binding	2
nuclear lumen	2
chromatin organization	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
system development	1
metaphase/anaphase transition of mitotic cell cycle	1
regulation of metaphase/anaphase transition of cell cycle	1
T cell differentiation	1
regulation of T cell differentiation	1
positive regulation of lymphocyte differentiation	1
positive regulation of T cell activation	1
cell differentiation	1
regulation of cell differentiation	1
positive regulation of cellular process	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
regulation of cell cycle process	1
G0 to G1 transition	1
stem cell population maintenance	1
positive regulation of multicellular organismal process	1
regulation of stem cell population maintenance	1
G1/S transition of mitotic cell cycle	1
regulation of cell cycle G1/S phase transition	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
regulation of DNA repair	1
nucleotide-excision repair	1
transcription regulator activity	1
protein-lysine-acetyltransferase activity	1
histone modifying activity	1
transition metal ion binding	1
cation binding	1
condensed chromosome, centromeric region	1

Protein interactions and networks

STRING

742 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHF10	ACTL6A	O96019	999
PHF10	BRD7	Q9NPI1	996
PHF10	ARID2	Q68CP9	995
PHF10	PBRM1	Q86U86	995
PHF10	SMARCE1	Q969G3	965
PHF10	ACTL6B	O94805	959
PHF10	SMARCA4	P51532	957
PHF10	SMARCB1	Q12824	951
PHF10	DPF3	Q92784	928
PHF10	SMARCC1	Q92922	920
PHF10	BANF1	O75531	909
PHF10	SMARCA2	P51531	909
PHF10	SMARCC2	Q8TAQ2	878
PHF10	BRD9	Q9H8M2	875
PHF10	ARID1A	O14497	871

IntAct

128 interactions, top by confidence:

A	B	Type	Score
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
SMARCE1	ARID1A	psi-mi:“MI:0914”(association)	0.840
NUP50	KPNA4	psi-mi:“MI:0914”(association)	0.830
SMARCC2	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCD1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SS18	ARID1A	psi-mi:“MI:0914”(association)	0.760
SMARCE1	SMARCA2	psi-mi:“MI:0914”(association)	0.730
SMARCD2	ARID1A	psi-mi:“MI:0914”(association)	0.670
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
BCL7A	ARID1A	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640

BioGRID (214): L3MBTL2 (Two-hybrid), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), L3MBTL2 (Two-hybrid), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), PHF10 (Affinity Capture-MS)

ESM2 similar proteins: A0A286Y9D1, A0JMK9, A2BIL7, A8DZJ1, B2KF05, B2RRD7, B4KLY7, F4IDY7, O15042, O94880, O97159, P55201, P97496, Q05913, Q20448, Q2T9V9, Q3T095, Q4V7A6, Q5EA28, Q5R7X2, Q61103, Q63ZP1, Q6DD45, Q6FSB1, Q6GQJ2, Q6IE81, Q6IE82, Q6NV83, Q6NWE1, Q6P2L6, Q6ZPI0, Q7KRW8, Q7ZVP1, Q803A0, Q8BRB7, Q8WML3, Q8WUB8, Q92613, Q92785, Q92922

Diamond homologs: A1YVX4, A2AUY4, A2BIL7, A6H619, A7E320, A8DZJ1, A9LMC0, B6CHA3, B7ZS37, B9RU15, E7EZF3, F4I240, F4KBP5, F6UA42, G5EBZ4, O43918, O88379, P29375, P41229, P41230, P47156, P56163, P58267, P58268, P58269, P58270, Q09477, Q12830, Q22516, Q23590, Q2T9V9, Q30DN6, Q38JA7, Q3UXZ9, Q4V7A6, Q5F3R2, Q5F489, Q5SMU7, Q5TKR9, Q5XUN4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PHF10	“form complex”	“SWI/SNF ACTL6B varian”	binding
PHF10	“form complex”	“Neural progenitor-specific SWI/SNF”	binding
PHF10	“form complex”	“Embryonic stem cell-specific SWI/SNF”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 145 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the embryonic stem cell BAF (esBAF) complex	11	66.8×	1e-16
Formation of the canonical BAF (cBAF) complex	10	64.1×	5e-15
Formation of the polybromo-BAF (pBAF) complex	10	64.1×	5e-15
Formation of the non-canonical BAF (ncBAF) complex	9	61.1×	3e-13
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	12	55.4×	1e-16
Regulation of endogenous retroelements	14	52.1×	6e-19
Regulation of MITF-M-dependent genes involved in pigmentation	13	34.9×	2e-15
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	9	27.3×	9e-10

GO biological processes:

GO term	Partners	Fold	FDR
regulation of G0 to G1 transition	11	53.7×	3e-14
nucleosome disassembly	9	52.3×	8e-12
regulation of nucleotide-excision repair	11	48.0×	7e-14
regulation of mitotic metaphase/anaphase transition	11	39.5×	6e-13
NLS-bearing protein import into nucleus	6	34.9×	8e-07
positive regulation of T cell differentiation	9	29.7×	1e-09
positive regulation of double-strand break repair	11	27.4×	3e-11
positive regulation of stem cell population maintenance	10	24.9×	7e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

36 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	23
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	Pathogenic

SpliceAI

1812 predictions. Top by Δscore:

Variant	Effect	Δscore
6:169712361:T:TA	donor_gain	1.0000
6:169712381:CTCAC:C	donor_loss	1.0000
6:169712382:TCA:T	donor_loss	1.0000
6:169712383:C:CG	donor_loss	1.0000
6:169712384:A:AC	donor_gain	1.0000
6:169712384:A:AT	donor_loss	1.0000
6:169712385:C:CA	donor_loss	1.0000
6:169712385:C:CC	donor_gain	1.0000
6:169715692:A:C	donor_gain	1.0000
6:169715706:A:AC	donor_gain	1.0000
6:169715707:C:CC	donor_gain	1.0000
6:169715735:T:TA	donor_gain	1.0000
6:169715739:T:A	donor_gain	1.0000
6:169715742:T:TA	donor_gain	1.0000
6:169715743:C:A	donor_gain	1.0000
6:169715853:ATTTG:A	acceptor_gain	1.0000
6:169715854:TTTG:T	acceptor_gain	1.0000
6:169715855:T:C	acceptor_gain	1.0000
6:169715855:TTG:T	acceptor_gain	1.0000
6:169715856:TG:T	acceptor_gain	1.0000
6:169715856:TGCTG:T	acceptor_loss	1.0000
6:169715858:C:CC	acceptor_gain	1.0000
6:169715858:C:T	acceptor_loss	1.0000
6:169715948:TAC:T	donor_loss	1.0000
6:169715949:A:AC	donor_gain	1.0000
6:169715949:ACTT:A	donor_loss	1.0000
6:169715950:C:CC	donor_gain	1.0000
6:169715950:CT:C	donor_loss	1.0000
6:169715953:A:AC	donor_gain	1.0000
6:169715954:C:CA	donor_gain	1.0000

AlphaMissense

3275 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:169704077:A:G	C475R	1.000
6:169704081:C:A	W473C	1.000
6:169704081:C:G	W473C	1.000
6:169704083:A:G	W473R	1.000
6:169704083:A:T	W473R	1.000
6:169705158:A:C	C462W	1.000
6:169705159:C:G	C462S	1.000
6:169705159:C:T	C462Y	1.000
6:169705160:A:G	C462R	1.000
6:169705160:A:T	C462S	1.000
6:169705167:A:C	H459Q	1.000
6:169705167:A:T	H459Q	1.000
6:169705169:G:C	H459D	1.000
6:169705180:T:A	D455V	1.000
6:169705180:T:G	D455A	1.000
6:169705182:A:C	C454W	1.000
6:169705183:C:G	C454S	1.000
6:169705183:C:T	C454Y	1.000
6:169705184:A:G	C454R	1.000
6:169705184:A:T	C454S	1.000
6:169705191:A:C	C451W	1.000
6:169705192:C:A	C451F	1.000
6:169705192:C:G	C451S	1.000
6:169705192:C:T	C451Y	1.000
6:169705193:A:G	C451R	1.000
6:169705193:A:T	C451S	1.000
6:169705194:G:C	F450L	1.000
6:169705194:G:T	F450L	1.000
6:169705196:A:G	F450L	1.000
6:169705228:C:G	C439S	1.000

dbSNP variants (sampled 300 via entrez): RS1000023966 (6:169704969 G>A,C,T), RS1000310022 (6:169726293 T>G), RS1000370325 (6:169719573 A>T), RS1000541844 (6:169724943 A>T), RS1000588974 (6:169723341 C>G), RS1000681942 (6:169726038 G>T), RS1000686092 (6:169717771 T>C,G), RS1000975715 (6:169717402 G>A,T), RS1001050696 (6:169717678 T>A), RS1001142466 (6:169718660 C>A,T), RS1001328684 (6:169710988 A>G), RS1001401345 (6:169712998 C>G), RS1001542614 (6:169707917 T>A), RS1001987344 (6:169709709 G>A,C), RS1002054475 (6:169723643 C>G)

Disease associations

OMIM: gene MIM:613069 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001255_3	Type 1 diabetes	8.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	6
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
lasiocarpine	decreases expression, increases metabolic processing	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
riddelliine	decreases expression, increases metabolic processing	1
methylparaben	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
coumarin	affects phosphorylation	1
perfluorodecanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	affects binding, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Copper	affects binding, decreases expression	1
Coumestrol	increases expression	1
Demecolcine	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Formaldehyde	decreases expression	1
Methotrexate	affects response to substance	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1BB	Abcam HEK293 PHF10 KO	Transformed cell line	Female
CVCL_TD07	HAP1 PHF10 (-) 1	Cancer cell line	Male
CVCL_TD08	HAP1 PHF10 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.