ADAP1

Summary

ADAP1 (ArfGAP with dual PH domains 1, HGNC:16486) is a protein-coding gene on chromosome 7p22.3, encoding Arf-GAP with dual PH domain-containing protein 1 (O75689). GTPase-activating protein for the ADP ribosylation factor family.

Enables GTPase activator activity. Predicted to be involved in cell surface receptor signaling pathway. Located in cytosol; nucleus; and plasma membrane.

Source: NCBI Gene 11033 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 110 total — 12 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_006869

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16486
Approved symbol	ADAP1
Name	ArfGAP with dual PH domains 1
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	GCS1L
Ensembl gene	ENSG00000105963
Ensembl biotype	protein_coding
OMIM	608114
Entrez	11033

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 19 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000265846, ENST00000435943, ENST00000437486, ENST00000446141, ENST00000449296, ENST00000453175, ENST00000453823, ENST00000454383, ENST00000463358, ENST00000477906, ENST00000478000, ENST00000481406, ENST00000488527, ENST00000495686, ENST00000495809, ENST00000539900, ENST00000611167, ENST00000617043, ENST00000649206, ENST00000876359, ENST00000943014, ENST00000943015, ENST00000943016, ENST00000943017, ENST00000943018, ENST00000943019

RefSeq mRNA: 5 — MANE Select: NM_006869 NM_001284308, NM_001284309, NM_001284310, NM_001284311, NM_006869

CCDS: CCDS5318, CCDS64576, CCDS64577, CCDS75558

Canonical transcript exons

ENST00000265846 — 11 exons

Exon	Start	End
ENSE00003478785	899419	899490
ENSE00003481039	899033	899261
ENSE00003529774	900102	900164
ENSE00003599369	904126	904272
ENSE00003617665	905060	905172
ENSE00003630408	935375	935505
ENSE00003661211	919968	920050
ENSE00003686129	926553	926644
ENSE00003785881	900533	900616
ENSE00003847844	897900	898949
ENSE00003850789	954396	954680

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 97.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8395 / max 271.3708, expressed in 1317 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82397	23.8096	1813
82394	9.5530	1224
82393	1.2827	475
82384	0.4507	182
82395	0.4369	225
82389	0.4105	162
82392	0.2455	142
204328	0.1256	53
82374	0.0763	27
82388	0.0753	46

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	97.69	gold quality
Ammon’s horn	UBERON:0001954	97.49	gold quality
mucosa of transverse colon	UBERON:0004991	97.44	gold quality
anterior cingulate cortex	UBERON:0009835	97.34	gold quality
prefrontal cortex	UBERON:0000451	97.29	gold quality
frontal cortex	UBERON:0001870	97.23	gold quality
right frontal lobe	UBERON:0002810	97.22	gold quality
primary visual cortex	UBERON:0002436	97.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.00	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.97	gold quality
cerebral cortex	UBERON:0000956	96.79	gold quality
temporal lobe	UBERON:0001871	96.77	gold quality
amygdala	UBERON:0001876	96.74	gold quality
superior frontal gyrus	UBERON:0002661	96.71	gold quality
granulocyte	CL:0000094	96.57	gold quality
substantia nigra	UBERON:0002038	96.30	gold quality
putamen	UBERON:0001874	95.95	gold quality
blood	UBERON:0000178	95.29	gold quality
nucleus accumbens	UBERON:0001882	95.28	gold quality
caudate nucleus	UBERON:0001873	95.18	gold quality
monocyte	CL:0000576	95.09	gold quality
leukocyte	CL:0000738	94.98	gold quality
hypothalamus	UBERON:0001898	94.82	gold quality
sural nerve	UBERON:0015488	94.36	gold quality
transverse colon	UBERON:0001157	93.83	gold quality
brain	UBERON:0000955	93.61	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.41	gold quality
lower esophagus	UBERON:0013473	93.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.32	gold quality
duodenum	UBERON:0002114	92.87	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.48
E-GEOD-99795	no	43.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting ADAP1, 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-6721-5P	99.93	68.92	2981
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-6800-5P	94.59	64.80	525
HSA-MIR-492	94.02	64.46	413

Literature-anchored findings (GeneRIF, showing 22)

• the up-regulated p42(IP4) in Alzheimer’s disease neurons may serve as a docking protein to recruit signaling molecules such as different subtypes of casein kinase I to the plasma membrane. (PMID:12499840)
• Results show that nucleolin interacts with centaurin-alpha(1) protein, suggesting that centaurin-alpha(1) may be part of a ribonucleoprotein complex. (PMID:12565890)
• centaurin-alpha1 negatively regulates ARF6 activity by functioning as an in vivo PIP3-dependent ARF6 GAP (PMID:14625293)
• p42IP4 receptor is expressed and distributed throughout the cell in HEK cell lines and is located on chromosome 7, position 7p22.3. (PMID:14690521)
• Authors propose alternative concepts of how elevated levels of p42IP4 might relate to its interaction with nucleolin in the pathomechanisms of Alzheimer’s disease. (PMID:15106847)
• The centaurin, alpha 1 protein is a high-affinity PtdIns(3,4,5)P3-binding protein enriched in brain. Sequence analysis indicates centaurin alpha-1 contains two pleckstrin homology domains, ankyrin repeats and an Arf GAP homology domain. (PMID:15679100)
• By acting as a GTPase activating protein for ADP ribosylation factor 6 (ARF6), centaurin alpha 1 is able to switch off ARF6 and inhibit its ability to mediate beta 2-adrenoceptor internalization. (PMID:15778454)
• Centaurin-alpha1 contributes to ERK activation in growth factor signaling, linking the PI3K pathway to the ERK mitogen-activated protein kinase pathway. (PMID:16287813)
• Data show that membrane transport of p42(IP4) induced by epidermal growth factor is inhibited by stimulation of phospholipase C-coupled thrombin receptor. (PMID:16341594)
• p42IP4 binds to nardilysin via the acidic domain, and that this interaction is controlled by the cognate cellular ligands of p42IP4/centaurin-alpha1 (PMID:16805830)
• The ARFGAP domain of p42IP4 is involved in the interaction and co-localization with RanBPM protein, without being the only interaction site. (PMID:18298663)
• Full-length KIF13B and CENTA1 form heterotetramers that can bind four phosphoinositide molecules in the vesicle and transport it along the microtubule. (PMID:21057110)
• SH-SY5Y cells, stably transfected with GFP-tagged-p42(IP4), show an enhanced NRD protein expression already at an earlier time point after retinoic acid stimulation. (PMID:21801775)
• Tubulin potentiates the interaction of the metalloendopeptidase nardilysin with the neuronal scaffold protein p42IP4/centaurin-alpha1 (ADAP1). (PMID:21972134)
• This review highlights the functions of the neuron-specific protein ADAP1 in neuronal differentiation and neurodegenerative diseases, with an overview of structural and biochemical properties of ADAP1. [review] (PMID:24854535)
• Analyzed ArfGAP with dual PH domains 1 (ADAP1) using mass spectrometry and found that ADAP1 is phosphorylated at Y364. (PMID:29659066)
• Adap1 deletion in tumor cells ameliorated the basement membrane breakdown and had less invading cells in the stroma. Study demonstrates that ADAP1 is a critical mediator of TGF-beta-induced cancer invasion. (PMID:31792062)
• In vitro reconstitution reveals phosphoinositides as cargo-release factors and activators of the ARF6 GAP ADAP1. (PMID:33443153)
• ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis. (PMID:35232997)
• Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer. (PMID:35702822)
• Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. (PMID:37156999)
• Arf GTPase-Activating proteins ADAP1 and ARAP1 regulate incorporation of CD63 in multivesicular bodies. (PMID:38682696)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Adap1	ENSMUSG00000056413
rattus_norvegicus	Adap1	ENSRNOG00000054033

Paralogs (28): ARAP2 (ENSG00000047365), ACAP1 (ENSG00000072818), SMAP2 (ENSG00000084070), ASAP3 (ENSG00000088280), ARFGAP1 (ENSG00000101199), AGFG2 (ENSG00000106351), GIT1 (ENSG00000108262), SMAP1 (ENSG00000112305), ACAP2 (ENSG00000114331), ARAP3 (ENSG00000120318), ACAP3 (ENSG00000131584), AGAP3 (ENSG00000133612), AGAP2 (ENSG00000135439), APPL2 (ENSG00000136044), GIT2 (ENSG00000139436), ARFGAP2 (ENSG00000149182), ASAP2 (ENSG00000151693), ASAP1 (ENSG00000153317), APPL1 (ENSG00000157500), AGAP1 (ENSG00000157985), AGAP5 (ENSG00000172650), AGFG1 (ENSG00000173744), ADAP2 (ENSG00000184060), ARAP1 (ENSG00000186635), AGAP4 (ENSG00000188234), AGAP6 (ENSG00000204149), AGAP9 (ENSG00000204172), ARFGAP3 (ENSG00000242247)

Protein

Protein identifiers

Arf-GAP with dual PH domain-containing protein 1 — O75689 (reviewed: O75689)

Alternative names: Centaurin-alpha-1, Putative MAPK-activating protein PM25

All UniProt accessions (9): O75689, A0A087WTN6, A0A3B3ISA7, C9JN36, H0Y7Q1, H7BZT6, H7C264, H7C324, H7C4B3

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein for the ADP ribosylation factor family. Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Regulates the incorporation of CD63 and CD9 into multivesicular bodies.

Subunit / interactions. Interacts with PRKCA, PRKCI and PRKCZ. Interacts with the N-terminal region of PRKD1.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed at highest levels in brain and at lower levels in peripheral blood leukocytes.

Post-translational modifications. Phosphorylated by PRKCA, PRKCI, PRKCZ and PRKD1 in vitro.

Isoforms (3)

UniProt ID	Names	Canonical?
O75689-1	1	yes
O75689-2	2
O75689-3	3

RefSeq proteins (5): NP_001271237, NP_001271238, NP_001271239, NP_001271240, NP_006860* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001164	ArfGAP_dom	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR037278	ARFGAP/RecO	Homologous_superfamily
IPR037849	PH1_ADAP	Domain
IPR037851	PH2_ADAP	Domain
IPR038508	ArfGAP_dom_sf	Homologous_superfamily
IPR052589	Arf-GAP_dual-PH_domain	Family

Pfam: PF00169, PF01412

UniProt features (59 total): strand 20, helix 16, turn 7, mutagenesis site 4, domain 3, modified residue 3, splice variant 2, chain 1, sequence variant 1, sequence conflict 1, zinc finger region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
3LJU	X-RAY DIFFRACTION	1.7
3FEH	X-RAY DIFFRACTION	1.9
3FM8	X-RAY DIFFRACTION	2.3
3MDB	X-RAY DIFFRACTION	2.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75689-F1	95.96	0.93

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 (3): 87, 272, 276

Mutagenesis-validated functional residues (4):

Position	Phenotype
21	loss of gtpase-activating activity.
24	loss of gtpase-activating activity.
149	40-45% reduction in ptdinsp2 3-kinase dependent membrane localization. almost complete loss of ptdinsp2 3-kinase depende
273	70% reduction in ptdinsp2 3-kinase dependent membrane localization. almost complete loss of ptdinsp2 3-kinase dependent

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1251985	Nuclear signaling by ERBB4
R-HSA-1236394	Signaling by ERBB4
R-HSA-162582	Signal Transduction
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases

MSigDB gene sets: 155 (showing top): ATF_B, GOBP_REGULATION_OF_GTPASE_ACTIVITY, RIZKI_TUMOR_INVASIVENESS_3D_DN, chr7p22, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, BLALOCK_ALZHEIMERS_DISEASE_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, ATF3_Q6, CREB_Q2_01, PID_PI3KCI_PATHWAY, ATF4_Q2, RGAGGAARY_PU1_Q6, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, CREBP1CJUN_01

GO Biological Process (3): cell surface receptor signaling pathway (GO:0007166), regulation of GTPase activity (GO:0043087), positive regulation of GTPase activity (GO:0043547)

GO Molecular Function (7): GTPase activator activity (GO:0005096), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), zinc ion binding (GO:0008270), inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533), phosphatidylinositol bisphosphate binding (GO:1902936), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by ERBB4	1
Signaling by Receptor Tyrosine Kinases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase activity	3
anion binding	3
cellular anatomical structure	2
signal transduction	1
regulation of hydrolase activity	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
phosphatidylinositol phosphate binding	1
transition metal ion binding	1
alcohol binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADAP1	KIF13B	Q9NQT8	965
ADAP1	NRDC	O43847	788
ADAP1	ARF6	P26438	770
ADAP1	NUCLEOLIN	P19338	747
ADAP1	PLEK2	Q9NYT0	723
ADAP1	PLEK	P08567	695
ADAP1	ARF1	P10947	660
ADAP1	RANBP9	Q96S59	543
ADAP1	CAMSAP3	Q9P1Y5	473
ADAP1	VAV3	Q9UKW4	462
ADAP1	AKT1	P31749	419
ADAP1	B3KSW5	B3KSW5	413
ADAP1	RASA1	P20936	412
ADAP1	RASA3	Q14644	399
ADAP1	FYB1	O15117	399

IntAct

28 interactions, top by confidence:

A	B	Type	Score
ADAP1	KIF13B	psi-mi:“MI:0407”(direct interaction)	0.650
GOLGA2	ADAP1	psi-mi:“MI:0915”(physical association)	0.560
DVL3	ADAP1	psi-mi:“MI:0915”(physical association)	0.560
ADAP1	SDCBP2	psi-mi:“MI:0915”(physical association)	0.560
ADAP1	DVL3	psi-mi:“MI:0915”(physical association)	0.560
SDCBP2	ADAP1	psi-mi:“MI:0915”(physical association)	0.560
ADAP1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
ADAP1	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
KIF13A	ADAP1	psi-mi:“MI:0407”(direct interaction)	0.440
SRPK2	ADAP1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
GADD45A	ADAP1	psi-mi:“MI:0915”(physical association)	0.370
ADAP1	GSK3B	psi-mi:“MI:0915”(physical association)	0.370
	AGPS	psi-mi:“MI:0914”(association)	0.350
UBR4	METTL15	psi-mi:“MI:0914”(association)	0.350
CSNK1A1	ADAP1	psi-mi:“MI:0915”(physical association)	0.320
PLEKHF2	ADAP1	psi-mi:“MI:0915”(physical association)	0.000
	ADAP1	psi-mi:“MI:0915”(physical association)	0.000
PSME3	ADAP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (42): ADAP1 (Two-hybrid), ADAP1 (Two-hybrid), SDCBP2 (Two-hybrid), Kif13b (Two-hybrid), Kif13b (Reconstituted Complex), ADAP1 (Reconstituted Complex), ADAP1 (Affinity Capture-Western), Kif13b (Co-localization), ADAP1 (Affinity Capture-Western), PRKCI (Affinity Capture-Western), PRKCZ (Affinity Capture-Western), PRKCI (Reconstituted Complex), PRKCZ (Reconstituted Complex), PIK3CA (Reconstituted Complex), PRKD1 (Reconstituted Complex)

ESM2 similar proteins: D3YXJ0, D3ZVP7, E9PUQ8, M9MRI4, O00562, O14827, O35954, O70143, O75689, O76902, O95248, P08240, P11862, P34657, Q02280, Q05B78, Q15057, Q16760, Q17QP1, Q29RQ5, Q2I6J0, Q2KI13, Q38JA7, Q4R584, Q505D9, Q5F3R2, Q5RFL4, Q5U2N3, Q5W7F2, Q5ZK62, Q64398, Q68FU1, Q6NNF2, Q6NVJ5, Q6ZPE2, Q6ZTA4, Q810J8, Q86XP1, Q8C7M3, Q8VCM3

Diamond homologs: A1L520, A1Z7A6, A5PK26, A6NIR3, O43150, O74345, O75689, O80925, O82171, O94601, O97902, P35197, P38682, P40529, P52594, Q04412, Q09531, Q0WQQ1, Q10165, Q10367, Q14161, Q15027, Q15057, Q17R07, Q1AAU6, Q1ZXH8, Q28CM8, Q2TA45, Q3MID3, Q3UHD9, Q4KLH5, Q4KLN7, Q4LDD4, Q4R4C9, Q5F413, Q5FVC7, Q5R787, Q5RAT7, Q5U464, Q5VTM2

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PRKCA	unknown	ADAP1	phosphorylation
PRKCE	unknown	ADAP1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	1
Uncertain significance	63
Likely benign	3
Benign	7

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	Pathogenic
154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	Pathogenic
160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	Pathogenic
2426527	NC_000007.13:g.(?193200)(1498962_?)del	Pathogenic
3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	Pathogenic
32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	Pathogenic
443916	GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1	Pathogenic
4682691	GRCh37/hg19 7p22.3-22.2(chr7:41421-3873619)x1	Pathogenic
58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	Pathogenic
688582	GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1	Pathogenic
814911	GRCh37/hg19 7p22.3(chr7:43360-1648288)x1	Pathogenic
816483	GRCh37/hg19 7p22.3(chr7:44935-1750797)x1	Pathogenic
443817	GRCh37/hg19 7p22.3(chr7:43360-2057743)x1	Likely pathogenic

SpliceAI

3042 predictions. Top by Δscore:

Variant	Effect	Δscore
7:898945:CTCCA:C	acceptor_gain	1.0000
7:898947:CCA:C	acceptor_gain	1.0000
7:898948:CA:C	acceptor_gain	1.0000
7:898948:CAC:C	acceptor_gain	1.0000
7:898950:C:CC	acceptor_gain	1.0000
7:899039:ACT:A	donor_gain	1.0000
7:899040:CTC:C	donor_gain	1.0000
7:899093:C:CA	donor_gain	1.0000
7:899413:CCTTA:C	donor_loss	1.0000
7:899414:CTTA:C	donor_loss	1.0000
7:899415:TTACC:T	donor_loss	1.0000
7:899416:TA:T	donor_loss	1.0000
7:899417:A:AC	donor_gain	1.0000
7:899417:A:AT	donor_loss	1.0000
7:899418:C:CC	donor_gain	1.0000
7:899418:C:CT	donor_loss	1.0000
7:899489:TG:T	acceptor_gain	1.0000
7:899489:TGC:T	acceptor_loss	1.0000
7:899490:GCTG:G	acceptor_loss	1.0000
7:899491:C:CC	acceptor_gain	1.0000
7:900097:CCCA:C	donor_loss	1.0000
7:900099:CACCT:C	donor_loss	1.0000
7:900101:C:A	donor_loss	1.0000
7:900162:CAG:C	acceptor_gain	1.0000
7:900165:C:CC	acceptor_gain	1.0000
7:900528:CTCA:C	donor_loss	1.0000
7:900529:TCA:T	donor_loss	1.0000
7:900530:CACAT:C	donor_loss	1.0000
7:900531:A:AC	donor_gain	1.0000
7:900531:A:C	donor_loss	1.0000

AlphaMissense

2468 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:899090:A:G	W347R	1.000
7:899090:A:T	W347R	1.000
7:899127:A:C	F334L	1.000
7:899127:A:T	F334L	1.000
7:899129:A:G	F334L	1.000
7:899436:A:G	Y284H	1.000
7:899441:A:G	L282P	1.000
7:899466:A:G	W274R	1.000
7:899466:A:T	W274R	1.000
7:900109:C:T	G263E	1.000
7:900114:C:A	K261N	1.000
7:900114:C:G	K261N	1.000
7:900604:A:G	W221R	1.000
7:900604:A:T	W221R	1.000
7:904158:G:T	R206S	1.000
7:904190:A:G	L195P	1.000
7:905077:A:G	Y162H	1.000
7:905147:C:A	K138N	1.000
7:905147:C:G	K138N	1.000
7:899088:C:A	W347C	0.999
7:899088:C:G	W347C	0.999
7:899128:A:G	F334S	0.999
7:899134:C:G	R332P	0.999
7:899135:G:T	R332S	0.999
7:899149:A:T	I327N	0.999
7:899230:C:T	G300D	0.999
7:899235:G:C	F298L	0.999
7:899235:G:T	F298L	0.999
7:899237:A:G	F298L	0.999
7:899245:C:T	G295E	0.999

dbSNP variants (sampled 300 via entrez): RS1000026463 (7:943989 C>A), RS1000029894 (7:949276 TGGCCACAC>T), RS1000047401 (7:916585 G>A), RS1000057515 (7:944757 C>T), RS1000078359 (7:931928 G>A), RS1000128840 (7:946011 G>T), RS1000164740 (7:916295 C>T), RS1000183020 (7:903108 G>A), RS1000199837 (7:920312 C>A,T), RS1000238379 (7:898163 G>A), RS1000249919 (7:954000 A>C), RS1000278626 (7:928821 A>G), RS1000324256 (7:902400 G>A,C), RS1000419593 (7:924941 GA>G), RS1000422810 (7:920194 C>G,T)

Disease associations

OMIM: gene MIM:608114 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010241_347	Apolipoprotein A1 levels	4.000000e-08
GCST90002388_14	Lymphocyte count	1.000000e-12
GCST90002389_141	Lymphocyte percentage of white cells	2.000000e-12
GCST90002401_446	Platelet distribution width	7.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	decreases expression, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	increases abundance, increases expression, affects cotreatment	2
bisphenol F	affects cotreatment, increases methylation	1
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	affects methylation	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
licochalcone B	increases expression	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases response to substance	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Ethanol	increases abundance, increases expression, affects cotreatment	1
Arsenic	affects methylation	1
Arsenicals	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, 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_E2QA	HyCyte THP-1 hADAP1_p.P14R_c.41C>G	Cancer cell line	Male
CVCL_E3IS	HyCyte THP-1-Luc	Cancer cell line	Male

Clinical trials (associated diseases)

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