PPP1R13B

Summary

PPP1R13B (protein phosphatase 1 regulatory subunit 13B, HGNC:14950) is a protein-coding gene on chromosome 14q32.33, encoding Apoptosis-stimulating of p53 protein 1 (Q96KQ4). Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53.

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor.

Source: NCBI Gene 23368 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 196 total
• MANE Select transcript: NM_015316

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14950
Approved symbol	PPP1R13B
Name	protein phosphatase 1 regulatory subunit 13B
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	p53BP2-like, KIAA0771, p85, ASPP1
Ensembl gene	ENSG00000088808
Ensembl biotype	protein_coding
OMIM	606455
Entrez	23368

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 7 protein_coding, 6 protein_coding_CDS_not_defined, 5 retained_intron, 3 nonsense_mediated_decay

ENST00000202556, ENST00000553739, ENST00000554106, ENST00000554136, ENST00000554432, ENST00000555183, ENST00000555391, ENST00000555708, ENST00000555734, ENST00000555825, ENST00000555991, ENST00000556325, ENST00000556334, ENST00000556597, ENST00000557082, ENST00000557587, ENST00000557744, ENST00000647748, ENST00000869341, ENST00000869342, ENST00000932297

RefSeq mRNA: 1 — MANE Select: NM_015316 NM_015316

CCDS: CCDS41997

Canonical transcript exons

ENST00000202556 — 17 exons

Exon	Start	End
ENSE00002700292	103847299	103847575
ENSE00003496345	103737694	103737860
ENSE00003497209	103739824	103740593
ENSE00003497360	103736003	103736202
ENSE00003520459	103749794	103749934
ENSE00003535121	103742654	103742823
ENSE00003540375	103738679	103738812
ENSE00003549487	103753000	103753196
ENSE00003557672	103746373	103746553
ENSE00003562059	103784795	103784914
ENSE00003564884	103778745	103778821
ENSE00003565537	103754070	103754244
ENSE00003569285	103741790	103742291
ENSE00003607400	103757650	103757751
ENSE00003687740	103738886	103739023
ENSE00003755331	103797371	103797518
ENSE00003834392	103733195	103735195

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 97.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5557 / max 97.0728, expressed in 1394 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145115	6.3989	1394
145113	0.1568	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	97.51	gold quality
left lobe of thyroid gland	UBERON:0001120	97.01	gold quality
thyroid gland	UBERON:0002046	96.57	gold quality
apex of heart	UBERON:0002098	95.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.97	gold quality
left testis	UBERON:0004533	94.69	gold quality
cerebellar hemisphere	UBERON:0002245	94.65	gold quality
right testis	UBERON:0004534	94.61	gold quality
cerebellar cortex	UBERON:0002129	94.58	gold quality
right atrium auricular region	UBERON:0006631	94.46	gold quality
cerebellum	UBERON:0002037	93.49	gold quality
cardiac atrium	UBERON:0002081	93.36	gold quality
heart left ventricle	UBERON:0002084	93.33	gold quality
cardiac ventricle	UBERON:0002082	93.12	gold quality
metanephros cortex	UBERON:0010533	92.53	gold quality
lower esophagus mucosa	UBERON:0035834	92.49	gold quality
testis	UBERON:0000473	92.39	gold quality
Brodmann (1909) area 10	UBERON:0013541	91.92	gold quality
right frontal lobe	UBERON:0002810	91.89	gold quality
body of stomach	UBERON:0001161	91.78	gold quality
heart	UBERON:0000948	91.70	gold quality
skin of leg	UBERON:0001511	91.54	gold quality
skin of abdomen	UBERON:0001416	91.49	gold quality
esophagus mucosa	UBERON:0002469	91.49	gold quality
adrenal tissue	UBERON:0018303	91.35	gold quality
minor salivary gland	UBERON:0001830	91.17	gold quality
cingulate cortex	UBERON:0003027	91.02	gold quality
anterior cingulate cortex	UBERON:0009835	90.97	gold quality
upper lobe of left lung	UBERON:0008952	90.93	gold quality
saliva-secreting gland	UBERON:0001044	90.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.11

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F2, E2F3, TP53

miRNA regulators (miRDB)

69 targeting PPP1R13B, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-182-5P	99.87	74.03	2589
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-3941	99.86	70.54	2735
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-609	99.82	64.26	505
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626

Literature-anchored findings (GeneRIF, showing 22)

• target of E2F transcription factor (PMID:15731768)
• ASPP1 CpG island aberrant methylation could be one molecular and genetic alteration in wild-type p53 tumours. (PMID:15757645)
• Mdm2 and mdmx prevent ASPP1 and ASPP2 from stimulating the apoptotic function of p53 by binding and inhibiting the transcriptional activity of p53. (PMID:15782125)
• role of ASPP1, ASPP2, and iASPP as apoptotic specific regulators of p53 [review] (PMID:16139958)
• results demonstrate that decreased expression of ASPP1 in patients with ALL is due to an abnormal methylation of its promoter and is associated with a poor prognosis (PMID:16314841)
• ASPP1 and ASPP2 genes are frequently down-regulated by DNA methylation in HBV-positive hepatocellular carcinoma, which may play important roles in the development of HCC (PMID:20034025)
• Data show that Lats2 and ASPP1 shunt p53 to proapoptotic promoters and promote the death of polyploid cells. (PMID:21041410)
• Data show that ASPP1 enhances nuclear accumulation of YAP/TAZ and YAP/TAZ-dependent transcriptional regulation. (PMID:21041411)
• Suggest that downregulation of ASPP1 by hypermethylation may be involved in the pathogenesis and progress of gestational trophoblastic disease, probably through its effect on apoptosis. (PMID:21102414)
• overexpression of ASPP1 rendered MCF-7 and MDA-MB231 breast cancer cells more sensitive to resveratrol-mediated apoptosis via the E2F pathway (PMID:21479363)
• The ability of ASPP1 to activate YAP results in the decreased expression of LATS2, which lowers the ability of p53 to induce p21, cell-cycle arrest and senescence. (PMID:22068052)
• ASPP1 promoter methylation may be associated with the malignant progression of non-small cell lung cancer, and ASPP1 expression promotes cellular apoptosis. (PMID:22169642)
• the mRNA expression of ASPP1 and ASPP2 was frequently dowregulated in tumor tissues, and this decreased significantly in samples expressing wild-type p53 (PMID:22552744)
• When the Px(T)PxR motif is deleted or mutated via insertion of a phosphorylation site mimic (T311D), PP-1c fails to bind to all three ASPP proteins, ASPP1, ASPP2 and iASPP. (PMID:23088536)
• ASPP1 and ASPP2 cooperate with oncogenic RAS to enhance the transcription and apoptotic function of p53. (PMID:23392125)
• ASPP1/2 interacted with centrosome linker protein C-Nap1. Co-depletion of ASPP1 and ASPP2 inhibited re-association of C-Nap1 with centrosome at the end of mitosis. (PMID:25660448)
• ASPP1/2-PP1 complexes are required for chromosome segregation and kinetochore-microtubule attachments. (PMID:26595804)
• Increased expression of p53 and ASPP1 and downregulation of iASPP. (PMID:27177208)
• Results showed that the protein expression levels of ASPP1 in esophageal squamous cell carcinoma (ESCC) tissues and in paired noncancerous tissues were similar but was significantly associated with histological differentiation and invasive depth which suggest that it might be involved in the progression of ESCC. (PMID:28103919)
• results provide new insights into EGR-1/ASPP1 regulatory loop in sensitizing Quercetin-induced apoptosis. EGR-1/ASPP1, therefore, may be potentially used as therapeutic targets to improve cancer’s response to pro-apoptosis treatments. (PMID:28594407)
• ASPP1 deficiency promotes epithelial-mesenchymal transition, invasion and metastasis in colorectal cancer. (PMID:32269211)
• Apoptosis stimulating protein of p53 (ASPP) 1 and ASPP2 m-RNA expression in oral cancer. (PMID:32987288)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp1r13ba	ENSDARG00000004377
danio_rerio	ppp1r13bb	ENSDARG00000009142
mus_musculus	Ppp1r13b	ENSMUSG00000021285
rattus_norvegicus	Ppp1r13b	ENSRNOG00000012653
drosophila_melanogaster	ASPP	FBGN0034606
caenorhabditis_elegans		WBGENE00000146

Paralogs (1): TP53BP2 (ENSG00000143514)

Protein

Protein identifiers

Apoptosis-stimulating of p53 protein 1 — Q96KQ4 (reviewed: Q96KQ4)

Alternative names: Protein phosphatase 1 regulatory subunit 13B

All UniProt accessions (7): Q96KQ4, A0A3B3ISJ2, G3V2L3, G3V3S2, G3V5J1, H0YJG1, H0YJL1

UniProt curated annotations — full annotation on UniProt →

Function. Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo.

Subunit / interactions. Interacts with P53/TP53; the interaction promotes pro-apoptotic activity.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Reduced expression in breast carcinomas expressing a wild-type TP53 protein.

Domain organisation. The ankyrin repeats and the SH3 domain are required for specific interactions with TP53.

Miscellaneous. In contrast to its official gene name, it is not a regulatory subunit of protein phosphatase 1. This name was given due to its similarity with a protein that binds to protein phosphatase 1.

Similarity. Belongs to the ASPP family.

RefSeq proteins (1): NP_056131* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR028319	ASPP1_RA	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR047163	ASPP1/2	Family
IPR048942	ASPP2-like_RA	Domain

Pfam: PF00018, PF12796, PF21801

UniProt features (27 total): compositionally biased region 10, modified residue 5, region of interest 5, sequence conflict 3, repeat 2, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6HL5	X-RAY DIFFRACTION	1.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96KQ4-F1	61.31	0.24

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 (5): 332, 335, 554, 681, 710

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-139915	Activation of PUMA and translocation to mitochondria
R-HSA-6803204	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-6803205	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
R-HSA-6803211	TP53 Regulates Transcription of Death Receptors and Ligands
R-HSA-6804759	Regulation of TP53 Activity through Association with Co-factors
R-HSA-109581	Apoptosis
R-HSA-109606	Intrinsic Pathway for Apoptosis
R-HSA-114452	Activation of BH3-only proteins
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-5357801	Programmed Cell Death
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5633008	TP53 Regulates Transcription of Cell Death Genes
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 161 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, CREL_01, BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, NFKB_Q6, NFKB_C, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, SIG_PIP3_SIGNALING_IN_B_LYMPHOCYTES, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, PID_P53_DOWNSTREAM_PATHWAY

GO Biological Process (4): regulation of apoptotic process (GO:0042981), negative regulation of cell cycle (GO:0045786), intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332), apoptotic process (GO:0006915)

GO Molecular Function (3): p53 binding (GO:0002039), protein binding (GO:0005515), transcription factor binding (GO:0008134)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
TP53 Regulates Transcription of Cell Death Genes	3
Transcriptional Regulation by TP53	2
Activation of BH3-only proteins	1
Regulation of TP53 Activity	1
Programmed Cell Death	1
Apoptosis	1
Intrinsic Pathway for Apoptosis	1
RNA Polymerase II Transcription	1
Generic Transcription Pathway	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein binding	2
apoptotic process	1
regulation of programmed cell death	1
cell cycle	1
negative regulation of cellular process	1
regulation of cell cycle	1
signal transduction by p53 class mediator	1
intrinsic apoptotic signaling pathway	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

696 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R13B	TP53	P04637	938
PPP1R13B	RASSF7	Q02833	635
PPP1R13B	RELA	Q04206	584
PPP1R13B	PPP1CA	P08129	576
PPP1R13B	ZFYVE21	Q9BQ24	559
PPP1R13B	RASSF8	Q8NHQ8	537
PPP1R13B	BCL2	P10415	523
PPP1R13B	RASSF1	Q9NS23	517
PPP1R13B	BAG5	Q9UL15	491
PPP1R13B	PPP1R26	Q5T8A7	461
PPP1R13B	TP53BP2	Q13625	458
PPP1R13B	PPP1R3B	Q86XI6	454
PPP1R13B	PPP1R2	P41236	450
PPP1R13B	PTPN14	Q15678	440
PPP1R13B	XRCC3	O43542	439

IntAct

283 interactions, top by confidence:

A	B	Type	Score
PPP1CA	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.940
PPP1CB	CCDC85C	psi-mi:“MI:0914”(association)	0.750
PPP1CB	CCDC85C	psi-mi:“MI:2364”(proximity)	0.750
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
PPP1CC	CCDC85C	psi-mi:“MI:2364”(proximity)	0.740
PPP1R13B	CDC5L	psi-mi:“MI:0915”(physical association)	0.740
RASSF8	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.720
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
PPP1CA	CCDC85C	psi-mi:“MI:2364”(proximity)	0.670
TRAF1	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
CCDC184	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
MIPOL1	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
PPP1R13B	TRAF1	psi-mi:“MI:0915”(physical association)	0.560
PPP1R13B	CCDC184	psi-mi:“MI:0915”(physical association)	0.560
GOLGA1	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
CKS1B	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
LMO3	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
FAM90A1	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
PPP1R13B	CAPN7	psi-mi:“MI:0915”(physical association)	0.560
PPP1R13B	MIS18A	psi-mi:“MI:0915”(physical association)	0.560
MTCL2	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
PPP1R18	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
LMO1	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
DEUP1	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (227): PPP1R13B (Two-hybrid), MIPOL1 (Two-hybrid), CCDC184 (Two-hybrid), PPP1R13B (Affinity Capture-RNA), EP300 (Affinity Capture-Western), TP53 (Affinity Capture-Western), BRCA1 (Two-hybrid), PPP1R13B (Affinity Capture-MS), PPP1R13B (Affinity Capture-MS), PPP1R13B (Affinity Capture-MS), PPP1R13B (Affinity Capture-MS), PPP1R13B (Affinity Capture-MS), PPP1R13B (Affinity Capture-MS), CCDC85B (Affinity Capture-MS), CCDC85C (Affinity Capture-MS)

ESM2 similar proteins: A0JM64, A4IHD9, B5DF93, D3ZTQ1, E7F1H9, O70305, P70501, Q12872, Q13625, Q2NLB0, Q2T9I5, Q32SG5, Q3TC46, Q3TCX3, Q3USH5, Q498K9, Q566L7, Q5R413, Q5R8Q4, Q5SFM8, Q5T8P6, Q5ZL54, Q62415, Q66IJ0, Q68FI1, Q6DDU9, Q6GP15, Q6NXI6, Q6NZ18, Q6NZN0, Q6PEH8, Q7Z7F0, Q86TB9, Q8BG81, Q8CG79, Q8CGC4, Q8IZD4, Q8K2F8, Q8ND56, Q8R205

Diamond homologs: A4FU49, A5GFW5, A7A261, O43281, O75791, O89100, P29355, P34109, P38753, P43603, P49710, P62993, P62994, Q07883, Q08012, Q08EC4, Q4P5J4, Q4R729, Q557J6, Q5I1X5, Q5R4J7, Q5TCX8, Q60631, Q64355, Q66II3, Q6FN49, Q6GPJ9, Q6YKA8, Q75DS3, Q7TSG5, Q8WUF5, Q96KQ4, Q9NQ75, A0JNB0, A1A5H8, A1Y2K1, B0BNA1, B1V8A0, E9Q634, F1LM93

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 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
Cell Cycle	8	6.4×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
cell division	11	7.4×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	158
Likely benign	7
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

4134 predictions. Top by Δscore:

Variant	Effect	Δscore
14:103735193:CAG:C	acceptor_gain	1.0000
14:103736026:AGC:A	donor_gain	1.0000
14:103736027:G:C	donor_gain	1.0000
14:103736063:A:AC	donor_gain	1.0000
14:103736063:AGT:A	donor_gain	1.0000
14:103736063:AGTCT:A	donor_gain	1.0000
14:103736076:T:TA	donor_gain	1.0000
14:103736199:ACCC:A	acceptor_gain	1.0000
14:103736200:CCC:C	acceptor_gain	1.0000
14:103736200:CCCC:C	acceptor_gain	1.0000
14:103736201:CCC:C	acceptor_gain	1.0000
14:103736203:C:CC	acceptor_gain	1.0000
14:103737726:T:TA	donor_gain	1.0000
14:103738677:ACCAT:A	donor_gain	1.0000
14:103738678:CCATC:C	donor_gain	1.0000
14:103738706:TTGAC:T	donor_gain	1.0000
14:103738731:T:TA	donor_gain	1.0000
14:103738808:TCCAC:T	acceptor_loss	1.0000
14:103738813:CT:C	acceptor_loss	1.0000
14:103738814:TAGGA:T	acceptor_loss	1.0000
14:103738880:GCTCA:G	donor_loss	1.0000
14:103738881:CTCAC:C	donor_loss	1.0000
14:103738882:TCAC:T	donor_loss	1.0000
14:103738883:CACC:C	donor_loss	1.0000
14:103738884:A:AC	donor_gain	1.0000
14:103738884:ACC:A	donor_loss	1.0000
14:103738885:C:CC	donor_gain	1.0000
14:103739019:TTGTT:T	acceptor_gain	1.0000
14:103739020:TGTT:T	acceptor_gain	1.0000
14:103739021:GTT:G	acceptor_gain	1.0000

AlphaMissense

7101 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:103737840:G:T	A962D	1.000
14:103737845:G:C	C960W	1.000
14:103737846:C:T	C960Y	1.000
14:103737847:A:G	C960R	1.000
14:103737860:C:A	W955C	1.000
14:103737860:C:G	W955C	1.000
14:103738680:A:G	W955R	1.000
14:103738680:A:T	W955R	1.000
14:103738691:T:A	D951V	1.000
14:103738753:G:C	C930W	1.000
14:103738755:A:G	C930R	1.000
14:103738757:A:T	V929D	1.000
14:103738761:C:G	A928P	1.000
14:103738762:G:C	N927K	1.000
14:103738762:G:T	N927K	1.000
14:103738938:A:G	L893P	1.000
14:103738941:A:G	L892P	1.000
14:103738958:A:C	F886L	1.000
14:103738958:A:T	F886L	1.000
14:103738960:A:G	F886L	1.000
14:103753115:A:G	L238P	1.000
14:103797394:A:G	L45S	1.000
14:103797505:A:T	V8D	1.000
14:103737699:A:G	L1009P	0.999
14:103737702:A:G	F1008S	0.999
14:103737710:G:C	C1005W	0.999
14:103737712:A:G	C1005R	0.999
14:103737740:A:C	C995W	0.999
14:103737742:A:G	C995R	0.999
14:103737743:C:A	K994N	0.999

dbSNP variants (sampled 300 via entrez): RS1000036713 (14:103766862 T>C), RS1000066512 (14:103846657 G>A), RS1000066684 (14:103763790 C>T), RS1000141528 (14:103807212 T>C), RS1000145285 (14:103798403 C>T), RS1000156940 (14:103846360 C>G), RS1000159430 (14:103766837 C>T), RS1000175136 (14:103823152 C>T), RS1000198347 (14:103848416 G>A,T), RS1000238726 (14:103840904 T>G), RS1000244106 (14:103790503 A>G), RS1000279065 (14:103749131 G>A), RS1000295591 (14:103829841 C>T), RS1000348563 (14:103789959 A>T), RS1000380995 (14:103820426 T>G)

Disease associations

OMIM: gene MIM:606455 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): childhood-onset schizophrenia (MONDO:0957430)

Orphanet (1): Childhood-onset schizophrenia (Orphanet:641496)

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002539_23	Schizophrenia	1.000000e-13
GCST004521_135	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_15	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_262	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST005951_9	Body mass index	4.000000e-09
GCST006613_111	Triglycerides	3.000000e-09
GCST006803_15	Schizophrenia	3.000000e-14
GCST007325_309	General risk tolerance (MTAG)	3.000000e-14
GCST008103_98	Bipolar disorder	2.000000e-06
GCST008522_67	Bitter alcoholic beverage consumption	2.000000e-06
GCST009600_35	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-12
GCST010002_161	Refractive error	1.000000e-20

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004530	triglyceride measurement
EFO:0008579	risk-taking behaviour
EFO:0010092	bitter alcoholic beverage consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
(+)-JQ1 compound	increases expression	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Tretinoin	increases expression	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
cypermethrin	increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
nickel acetate	affects expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Vehicle Emissions	affects expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TF60	HAP1 PPP1R13B (-) 1	Cancer cell line	Male
CVCL_TF61	HAP1 PPP1R13B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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