ASF1B

Summary

ASF1B (anti-silencing function 1B histone chaperone, HGNC:20996) is a protein-coding gene on chromosome 19p13.12, encoding Histone chaperone ASF1B (Q9NVP2). Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly.

This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly.

Source: NCBI Gene 55723 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_018154

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20996
Approved symbol	ASF1B
Name	anti-silencing function 1B histone chaperone
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10604
Ensembl gene	ENSG00000105011
Ensembl biotype	protein_coding
OMIM	609190
Entrez	55723

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay

ENST00000263382, ENST00000474890, ENST00000589468, ENST00000590835, ENST00000592798, ENST00000882896, ENST00000911399, ENST00000955039

RefSeq mRNA: 1 — MANE Select: NM_018154 NM_018154

CCDS: CCDS12306

Canonical transcript exons

ENST00000263382 — 4 exons

Exon	Start	End
ENSE00001230845	14119512	14120665
ENSE00002750887	14126122	14126237
ENSE00002906439	14136348	14136589
ENSE00003485580	14121532	14121708

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 92.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5934 / max 208.7968, expressed in 1536 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179616	20.5934	1536

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	92.37	gold quality
left testis	UBERON:0004533	91.61	gold quality
testis	UBERON:0000473	90.97	gold quality
mucosa of transverse colon	UBERON:0004991	89.16	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.04	gold quality
ventricular zone	UBERON:0003053	85.45	gold quality
blood	UBERON:0000178	84.33	gold quality
rectum	UBERON:0001052	84.31	gold quality
lymph node	UBERON:0000029	84.05	gold quality
bone marrow	UBERON:0002371	83.35	gold quality
ganglionic eminence	UBERON:0004023	83.28	gold quality
vermiform appendix	UBERON:0001154	82.04	gold quality
placenta	UBERON:0001987	81.82	gold quality
duodenum	UBERON:0002114	80.86	gold quality
esophagus mucosa	UBERON:0002469	80.41	gold quality
bone marrow cell	CL:0002092	80.21	gold quality
stromal cell of endometrium	CL:0002255	80.21	gold quality
leukocyte	CL:0000738	79.24	gold quality
granulocyte	CL:0000094	79.12	gold quality
monocyte	CL:0000576	78.94	gold quality
lower esophagus mucosa	UBERON:0035834	78.84	gold quality
adrenal tissue	UBERON:0018303	77.97	gold quality
spleen	UBERON:0002106	75.93	gold quality
smooth muscle tissue	UBERON:0001135	73.20	gold quality
transverse colon	UBERON:0001157	72.71	gold quality
small intestine	UBERON:0002108	71.87	gold quality
small intestine Peyer’s patch	UBERON:0003454	71.80	gold quality
tonsil	UBERON:0002372	69.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	67.88	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	156.88
E-GEOD-81383	yes	108.69
E-MTAB-7052	yes	49.29
E-MTAB-6678	yes	8.34
E-ANND-3	yes	3.26
E-MTAB-6911	no	197.63
E-GEOD-110499	no	82.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F2, E2F3, E2F4, E2F5, NFYA, SP1

miRNA regulators (miRDB)

70 targeting ASF1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-3133	99.81	70.92	3506

Literature-anchored findings (GeneRIF, showing 34)

• model is proposed in which the synergism between hAsf1 and CAF-1 for nucleosome formation during DNA repair is achieved through a transient physical interaction allowing histone delivery from Asf1 to CAF-1 [asf1(anti-silencing function 1)] (PMID:11897662)
• data suggest that CIA-II is a histone chaperone and is implicated in the regulation of mammalian spermatogenesis (PMID:12842904)
• Studies provide evidence for TLK1B-mediated phosphorylation of Asf1 triggering DNA repair. (PMID:17054786)
• the expression of human ASF1A and ASF1B are upregulated followed by cell proliferation signal, but that of ASF1B is uniquely regulated by transcription factors E2F during cell cycle progression (PMID:17328667)
• data link Asf1 chaperone function, histone supply, and replicative unwinding of DNA in chromatin; proposed that Asf1, as a histone acceptor and donor, handles parental and new histones at the replication fork via an Asf1-(H3-H4)-MCM2-7 intermediate (PMID:18096807)
• ASF1A and ASF1B play a role in the efficiency of nucleosome assembly in vivo in human cells. (PMID:18378699)
• ASF1 cellular levels are tightly controlled by distinct pathways and provide a molecular mechanism for post-translational regulation of dASF1 and hASF1a by TLK kinases. (PMID:20016786)
• Data show that Asf1b localizes with HCF-1 in viral replication foci and depletion of Asf1b results in significantly reduced viral DNA accumulation. (PMID:20133788)
• Identify marks on histones H3-H4 bound to Asf1 and changes induced upon replication stress. (PMID:20227376)
• Asf1b, the necessary Asf1 isoform for proliferation, is predictive of outcome in breast cancer. (PMID:21179005)
• Data indicate that miR-214 down-regulated the expression of PSMD10 (gankyrin) and ASF1B, and gankyrin inhibition induced an increase of P53 mRNA levels. (PMID:23100276)
• study of the interaction of the histone H3-H4 complex with the RbAp48 and their exchange with a second histone chaperone, anti-silencing function protein 1 (ASF1); exchange of histones H3-H4 between these two histone chaperones has a central role in the assembly of new nucleosomes (PMID:23178455)
• Co-depletion of the histone chaperones ASF1a and ASF1b in human cells induces all hallmarks of alternative lengthening of telomeres in both primary and cancer cells. (PMID:24413054)
• Data indicate Tousled-like kinases (TLK1) phosphorylation has an impact on cell cycle proteins Asf1a and Asf1b function. (PMID:24598821)
• histone binding to ASF1B is required for the induction of beta-cell proliferation. (PMID:27753532)
• ASF1B is highly expressed in the prostate cancer tissues and cells.ASF1B regulatres the PI3K/Akt signaling pathway in prostate cancer. (PMID:30132513)
• ASF1B overexpression significantly enhanced the proliferation and migration of clear cell renal cell carcinomacells, while silencing ASF1B expression significantly inhibited the proliferation and migration. ASF1B overexpression promoted tumor cell proliferation and migration, which was dependent on the AKT/P70 S6K1 pathway. (PMID:30777326)
• ASF1B promotes cervical cancer progression through stabilization of CDK9. (PMID:32848135)
• Mild dyserythropoiesis and beta-like globin gene expression imbalance due to the loss of histone chaperone ASF1B. (PMID:33066815)
• Elevated expression of ASF1B correlates with poor prognosis in human lung adenocarcinoma. (PMID:33576264)
• Identification of hsa_circ_0002024 as a prognostic competing endogenous RNA (ceRNA) through the hsa_miR_129-5p/Anti-Silencing Function 1B Histone Chaperone (ASF1B) axis in renal cell carcinoma. (PMID:34516341)
• MicroRNA-520d-3p suppresses melanoma cells proliferation by inhibiting the anti-silencing function 1B histone chaperone. (PMID:34872448)
• ASF1B enhances migration and invasion of lung cancers cell via regulating the P53-mediated epithelial-mesenchymal transformation (EMT) signaling pathway. (PMID:35103478)
• Tousled-like kinase 2 targets ASF1 histone chaperones through client mimicry. (PMID:35136069)
• RIF1-ASF1-mediated high-order chromatin structure safeguards genome integrity. (PMID:35177609)
• Involvement of elevated ASF1B in the poor prognosis and tumorigenesis in pancreatic cancer. (PMID:35362843)
• Downregulation of ASF1B inhibits tumor progression and enhances efficacy of cisplatin in pancreatic cancer. (PMID:35599471)
• ASF1B, as an Independent Prognostic Biomarker, Correlates with Immune Infiltrates in Hepatocellular Carcinoma. (PMID:35993469)
• miR-24-3p Regulates Epithelial-Mesenchymal Transition and the Malignant Phenotype of Pancreatic Adenocarcinoma by Regulating ASF1B Expression. (PMID:36114946)
• The circCDK17/miR-122-5p/ASF1B axis regulates the progression of cervical cancer. (PMID:36178207)
• Antisilencing function 1B promotes the progression of pancreatic cancer by activating cMyc. (PMID:36416310)
• The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma. (PMID:36947060)
• CIA-II is associated with lower-grade glioma survival and cell proliferation. (PMID:37452510)
• ASF1B is an essential prognostic indicator linked to the growth and resistance characteristics of bladder cancer. (PMID:39018712)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	asf1bb	ENSDARG00000043713
danio_rerio	asf1ba	ENSDARG00000101037
mus_musculus	Asf1b	ENSMUSG00000005470
rattus_norvegicus	Asf1b	ENSRNOG00000005115
drosophila_melanogaster	asf1	FBGN0029094
caenorhabditis_elegans		WBGENE00006817
caenorhabditis_elegans	asfl-1	WBGENE00007277

Paralogs (1): ASF1A (ENSG00000111875)

Protein

Protein identifiers

Histone chaperone ASF1B — Q9NVP2 (reviewed: Q9NVP2)

Alternative names: Anti-silencing function protein 1 homolog B, CCG1-interacting factor A-II

All UniProt accessions (5): Q9NVP2, K7EIL9, K7ELW9, K7EM93, K7ES22

UniProt curated annotations — full annotation on UniProt →

Function. Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly. Also involved in the nuclear import of the histone H3-H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 ‘Lys-9’ (H3K9me1) and diacetylation at ‘Lys-5’ and ‘Lys-12’ of H4 (H4K5K12ac) marks in the cytosol. Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA. Required for gonad development.

Subunit / interactions. Interacts with histone H3 (via C-terminus), including histone H3.1, H3.2 and H3.3, and histone H4; the interaction with H3 is direct. Interacts with the CHAF1A, CHAF1B and RBBP4 subunits of the CAF-1 complex. Interacts with HAT1, NASP and TAF1. Found in a soluble complex with NASP and histones H3 and H4; the interaction with NASP is probably indirect and mediated by H3-H4. Interacts with CDAN1. Found in a cytosolic complex with IPO4 and histones H3 and H4. Interacts with CREBBP.

Subcellular location. Nucleus. Cytoplasm. Cytosol.

Tissue specificity. Highly expressed in testis and at lower levels in colon, small intestine and thymus.

Post-translational modifications. Phosphorylated by TLK1 and TLK2.

Similarity. Belongs to the ASF1 family.

RefSeq proteins (1): NP_060624* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006818	ASF1-like	Family
IPR036747	ASF1-like_sf	Homologous_superfamily

Pfam: PF04729

UniProt features (26 total): strand 11, helix 5, mutagenesis site 4, region of interest 2, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
5BNX	X-RAY DIFFRACTION	2.31
7V1M	X-RAY DIFFRACTION	2.83
5BO0	X-RAY DIFFRACTION	2.91
7VCQ	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVP2-F1	85.71	0.77

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 (1): 198

Mutagenesis-validated functional residues (4):

Position	Phenotype
36	abolishes cdan1 interaction.
37	abolishes cdan1 interaction.
169	no apparent effect on asf1b phosphorylation by tlk2. reduced phosphorylation of asf1b by tlk2 when associated with a-198
198	reduced phosphorylation of asf1b by tlk2 when associated with a-169.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 298 (showing top): GNF2_CKS1B, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, HORIUCHI_WTAP_TARGETS_DN, KANG_DOXORUBICIN_RESISTANCE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_MALE_GAMETE_GENERATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, KONG_E2F3_TARGETS, GOLDRATH_ANTIGEN_RESPONSE, PATIL_LIVER_CANCER, GOBP_NUCLEAR_TRANSPORT, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, FUJII_YBX1_TARGETS_DN

GO Biological Process (6): blastocyst hatching (GO:0001835), nucleosome assembly (GO:0006334), DNA replication-dependent chromatin assembly (GO:0006335), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), chromatin organization (GO:0006325)

GO Molecular Function (3): histone binding (GO:0042393), histone chaperone activity (GO:0140713), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), protein-containing complex (GO:0032991), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
chromatin organization	2
blastocyst development	1
hatching	1
nucleosome organization	1
protein-DNA complex assembly	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cellular component organization	1
protein binding	1
histone binding	1
protein carrier activity	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
cellular_component	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASF1B	H3C1	P02295	895
ASF1B	H3-3A	P06351	892
ASF1B	SRSF1	Q07955	888
ASF1B	H3-4	Q16695	880
ASF1B	H3-7	Q5TEC6	879
ASF1B	H3-5	Q6NXT2	879
ASF1B	H3C14	Q71DI3	879
ASF1B	TLK1	Q9UKI8	864
ASF1B	TLK2	Q86UE8	856
ASF1B	NASP	P49321	842
ASF1B	IPO4	Q8TEX9	816
ASF1B	CHAF1B	Q13112	760
ASF1B	MCM7	P33993	735
ASF1B	MCM5	P33992	728
ASF1B	CDC45	O75419	659

IntAct

84 interactions, top by confidence:

A	B	Type	Score
ASF1B	CHAF1B	psi-mi:“MI:0407”(direct interaction)	0.860
CHAF1A	ASF1B	psi-mi:“MI:0403”(colocalization)	0.840
ASF1B	CHAF1A	psi-mi:“MI:0403”(colocalization)	0.840
HIRA	ASF1B	psi-mi:“MI:0407”(direct interaction)	0.830
MCM2	MCM4	psi-mi:“MI:0914”(association)	0.830
CDAN1	ASF1B	psi-mi:“MI:0914”(association)	0.800
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
CHAF1A	CBX5	psi-mi:“MI:0914”(association)	0.790
CHAF1B	CBX5	psi-mi:“MI:0914”(association)	0.790
MCM2	ASF1B	psi-mi:“MI:0914”(association)	0.770
ASF1B	MCM2	psi-mi:“MI:0915”(physical association)	0.770
H3C1	HAT1	psi-mi:“MI:0914”(association)	0.770
H3-3A	ASF1B	psi-mi:“MI:0915”(physical association)	0.720
H3-3A	ASF1B	psi-mi:“MI:0914”(association)	0.720
H3C1	MCM2	psi-mi:“MI:0914”(association)	0.710
ASF1A	HAT1	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
RBBP7	EPOP	psi-mi:“MI:0914”(association)	0.530

BioGRID (267): ASF1B (Affinity Capture-RNA), ASF1B (Affinity Capture-RNA), HAT1 (Co-fractionation), ASF1B (Proximity Label-MS), MCM2 (Affinity Capture-MS), MCM3 (Affinity Capture-MS), MCM4 (Affinity Capture-MS), MCM5 (Affinity Capture-MS), MCM6 (Affinity Capture-MS), MCM7 (Affinity Capture-MS), CHAF1A (Affinity Capture-MS), CHAF1B (Affinity Capture-MS), HIRA (Affinity Capture-MS), HIST1H3E (Affinity Capture-MS), ASF1B (Co-purification)

ESM2 similar proteins: A0A0D1DWQ2, A0A348AXY2, A0A348HAY9, A7T395, B8MKY9, B8MKZ5, C5PIJ9, C8VJZ7, D3ZKV9, I1R9B4, O13740, O13881, O42666, P0C7P4, P0CM51, P0CV11, P12556, P13157, P33802, P47985, Q03508, Q04564, Q09288, Q0V147, Q17QJ0, Q42652, Q4W9G3, Q587E3, Q5AQZ4, Q5AR53, Q5BAP2, Q5TEA3, Q69BJ6, Q69BK0, Q69BK1, Q69BK2, Q69BK3, Q69BK4, Q69BK5, Q69BK6

Diamond homologs: O74515, P0CM26, P0CM27, P32447, Q17603, Q17QJ0, Q19326, Q1E0W9, Q2GQS2, Q2KIG1, Q2UKV7, Q3C1E9, Q4IR08, Q4PBU8, Q4WXX5, Q54N45, Q59MV1, Q5B3I9, Q69DB9, Q6BYE5, Q6CI62, Q6CN69, Q6DIP1, Q6FL84, Q6NY34, Q6NYY4, Q759F6, Q7S1X9, Q7T0M6, Q8SRM1, Q9C9M6, Q9CQE6, Q9DAP7, Q9LS09, Q9NVP2, Q9V464, Q9Y294

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TLK2	unknown	ASF1B	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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
NuRD complex assembly	7	26.7×	2e-06
PRC2 methylates histones and DNA	6	24.7×	1e-05
Defective pyroptosis	5	21.1×	2e-04
Interaction of NuRD complexes with transcription factors	6	20.6×	3e-05
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	5	20.6×	2e-04
Regulation of endogenous retroelements by KRAB-ZFP proteins	7	20.2×	7e-06
Negative Regulation of CDH1 Gene Transcription	5	16.2×	6e-04
Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)	5	15.9×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
nucleosome assembly	12	30.6×	1e-12
DNA replication	8	24.0×	2e-07
chromatin organization	6	10.8×	1e-03
DNA damage response	7	6.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

623 predictions. Top by Δscore:

Variant	Effect	Δscore
19:14120661:TGGAG:T	acceptor_gain	1.0000
19:14120664:AG:A	acceptor_gain	1.0000
19:14120666:C:CC	acceptor_gain	1.0000
19:14121528:CCACC:C	donor_loss	1.0000
19:14121529:CACC:C	donor_loss	1.0000
19:14121530:ACCTG:A	donor_loss	1.0000
19:14121531:CC:C	donor_loss	1.0000
19:14121549:T:TA	donor_gain	1.0000
19:14121566:CG:C	donor_gain	1.0000
19:14121566:CGCAG:C	donor_gain	1.0000
19:14121570:G:C	donor_gain	1.0000
19:14126116:TCTTA:T	donor_loss	1.0000
19:14126117:CTTAC:C	donor_loss	1.0000
19:14126118:TTAC:T	donor_loss	1.0000
19:14126119:TACCT:T	donor_loss	1.0000
19:14126120:ACC:A	donor_loss	1.0000
19:14126121:C:CG	donor_loss	1.0000
19:14126238:C:CC	acceptor_gain	1.0000
19:14120662:GGAG:G	acceptor_gain	0.9900
19:14120663:GAG:G	acceptor_gain	0.9900
19:14120672:C:CT	acceptor_gain	0.9900
19:14120673:A:T	acceptor_gain	0.9900
19:14121565:A:AC	donor_gain	0.9900
19:14121566:C:CC	donor_gain	0.9900
19:14126233:CAGGT:C	acceptor_gain	0.9900
19:14126235:GGT:G	acceptor_gain	0.9900
19:14126237:TC:T	acceptor_loss	0.9900
19:14126238:CTG:C	acceptor_loss	0.9900
19:14126239:T:G	acceptor_loss	0.9900
19:14126240:G:C	acceptor_loss	0.9900

AlphaMissense

1335 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:14120609:C:A	W153C	1.000
19:14120609:C:G	W153C	1.000
19:14120611:A:G	W153R	1.000
19:14120611:A:T	W153R	1.000
19:14120658:C:G	R137P	1.000
19:14121596:A:T	V113D	1.000
19:14121605:C:T	G110D	1.000
19:14121606:C:G	G110R	1.000
19:14121611:C:G	R108P	1.000
19:14121616:G:C	F106L	1.000
19:14121616:G:T	F106L	1.000
19:14121617:A:G	F106S	1.000
19:14121618:A:G	F106L	1.000
19:14121637:G:C	C99W	1.000
19:14121638:C:T	C99Y	1.000
19:14121647:A:G	L96P	1.000
19:14121698:G:T	P79H	1.000
19:14126131:A:C	F72L	1.000
19:14126131:A:T	F72L	1.000
19:14126133:A:G	F72L	1.000
19:14126183:T:G	Q55P	1.000
19:14126210:C:T	G46D	1.000
19:14126228:C:G	W40S	1.000
19:14126229:A:G	W40R	1.000
19:14126229:A:T	W40R	1.000
19:14126234:A:G	L38P	1.000
19:14120610:C:G	W153S	0.999
19:14120621:G:C	F149L	0.999
19:14120621:G:T	F149L	0.999
19:14120623:A:G	F149L	0.999

dbSNP variants (sampled 300 via entrez): RS1000082286 (19:14136940 T>C), RS1000478318 (19:14126449 T>C), RS1000525362 (19:14132314 C>T), RS1000632395 (19:14137350 C>T), RS1000746775 (19:14137449 C>G,T), RS1000977664 (19:14121120 C>T), RS1001041500 (19:14132654 C>T), RS1001269067 (19:14126471 ATTTT>A,ATTT,ATTTTT), RS1001315804 (19:14137458 G>C), RS1001333324 (19:14132981 A>G), RS1001430873 (19:14132173 A>T), RS1001743126 (19:14131628 G>A), RS1001803686 (19:14132196 T>C), RS1001851860 (19:14137076 T>C,G), RS1002270224 (19:14127707 G>A)

Disease associations

OMIM: gene MIM:609190 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects binding, increases reaction, decreases expression, affects cotreatment (+2 more)	6
Cyclosporine	decreases expression	4
Aflatoxin B1	affects expression, increases methylation	3
bisphenol A	decreases expression, affects expression	2
cobaltous chloride	decreases expression	2
Benzo(a)pyrene	increases expression, affects methylation	2
Cisplatin	increases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
trichostatin A	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
diethyl malate	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
ICG 001	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1R1	HAP1 ASF1B (-) 2	Cancer cell line	Male
CVCL_XL59	HAP1 ASF1B (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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