RABGAP1

Summary

RABGAP1 (RAB GTPase activating protein 1, HGNC:17155) is a protein-coding gene on chromosome 9q33.2-q33.3, encoding Rab GTPase-activating protein 1 (Q9Y3P9). May act as a GTPase-activating protein of RAB6A.

Enables GTPase activator activity and small GTPase binding activity. Located in cytosol.

Source: NCBI Gene 23637 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 137 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_012197

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17155
Approved symbol	RABGAP1
Name	RAB GTPase activating protein 1
Location	9q33.2-q33.3
Locus type	gene with protein product
Status	Approved
Aliases	GAPCenA, TBC1D11
Ensembl gene	ENSG00000011454
Ensembl biotype	protein_coding
OMIM	615882
Entrez	23637

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 16 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000317419, ENST00000373647, ENST00000402311, ENST00000426918, ENST00000456584, ENST00000459903, ENST00000474707, ENST00000475607, ENST00000480054, ENST00000485090, ENST00000493854, ENST00000870247, ENST00000870248, ENST00000870249, ENST00000919451, ENST00000919452, ENST00000941860, ENST00000941861, ENST00000941862, ENST00000941863, ENST00000941864, ENST00000941865, ENST00000941866, ENST00000941867, ENST00000941868

RefSeq mRNA: 1 — MANE Select: NM_012197 NM_012197

CCDS: CCDS6848

Canonical transcript exons

ENST00000373647 — 26 exons

Exon	Start	End
ENSE00000504622	122998597	122998766
ENSE00000725754	123015543	123015636
ENSE00000725759	123020309	123020459
ENSE00001237286	122997259	122997361
ENSE00001557891	123010354	123010528
ENSE00001838451	122941020	122941093
ENSE00001891174	123103091	123104866
ENSE00003486285	122989297	122989471
ENSE00003494980	122990056	122990213
ENSE00003495056	123090275	123090385
ENSE00003517852	122984485	122984719
ENSE00003529693	122957011	122957209
ENSE00003530243	123101566	123101763
ENSE00003531627	123099478	123099549
ENSE00003535183	122996539	122996605
ENSE00003541844	123098715	123098798
ENSE00003578925	123076634	123076762
ENSE00003581163	123074285	123074428
ENSE00003588742	123089758	123089850
ENSE00003607685	123070350	123070424
ENSE00003631351	122996041	122996151
ENSE00003659179	123097741	123097845
ENSE00003664142	123073552	123073677
ENSE00003665150	122986215	122986419
ENSE00003682786	123076245	123076286
ENSE00003687388	123065348	123065461

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.0230 / max 100.4753, expressed in 1765 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98429	12.0230	1765
98435	2.1208	285

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.79	gold quality
blood vessel layer	UBERON:0004797	98.56	gold quality
middle temporal gyrus	UBERON:0002771	98.04	gold quality
olfactory bulb	UBERON:0002264	98.00	gold quality
medial globus pallidus	UBERON:0002477	97.63	gold quality
cranial nerve II	UBERON:0000941	97.51	gold quality
amniotic fluid	UBERON:0000173	97.13	gold quality
endothelial cell	CL:0000115	97.05	gold quality
globus pallidus	UBERON:0001875	97.02	gold quality
oocyte	CL:0000023	96.76	gold quality
cauda epididymis	UBERON:0004360	96.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.73	gold quality
saphenous vein	UBERON:0007318	96.65	gold quality
palpebral conjunctiva	UBERON:0001812	96.61	gold quality
corpus epididymis	UBERON:0004359	96.60	gold quality
visceral pleura	UBERON:0002401	96.58	gold quality
colonic epithelium	UBERON:0000397	96.36	gold quality
parietal pleura	UBERON:0002400	96.34	gold quality
caput epididymis	UBERON:0004358	96.29	gold quality
tendon of biceps brachii	UBERON:0008188	96.27	gold quality
pleura	UBERON:0000977	96.19	gold quality
dorsal root ganglion	UBERON:0000044	96.07	gold quality
esophagus squamous epithelium	UBERON:0006920	96.04	gold quality
right coronary artery	UBERON:0001625	95.89	gold quality
mucosa of stomach	UBERON:0001199	95.87	gold quality
trigeminal ganglion	UBERON:0001675	95.87	gold quality
popliteal artery	UBERON:0002250	95.76	gold quality
tibial artery	UBERON:0007610	95.75	gold quality
inferior olivary complex	UBERON:0002127	95.74	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

121 targeting RABGAP1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-10527-5P	99.91	72.28	3754

Literature-anchored findings (GeneRIF, showing 1)

• suggest that EPI64A and B, which are ubiquitously expressed members of the EPI64 subfamily, inactivate Ras and certain Rabs at the periphery of cells. (PMID:23248241)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rabgap1	ENSDARG00000098967
mus_musculus	Rabgap1	ENSMUSG00000035437
rattus_norvegicus	Rabgap1	ENSRNOG00000009402

Paralogs (45): TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)

Protein

Protein identifiers

Rab GTPase-activating protein 1 — Q9Y3P9 (reviewed: Q9Y3P9)

Alternative names: GAP and centrosome-associated protein, Rab6 GTPase-activating protein GAPCenA

All UniProt accessions (3): Q9Y3P9, B5MCD9, C9JGR5

UniProt curated annotations — full annotation on UniProt →

Function. May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.

Subunit / interactions. Interacts with RAB6A and tubulin gamma.

Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome.

Domain organisation. The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab’s ‘switch 2’ glutamine and insert in Rab’s active site.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y3P9-1	1	yes
Q9Y3P9-2	2
Q9Y3P9-3	3
Q9Y3P9-4	4

RefSeq proteins (1): NP_036329* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000195	Rab-GAP-TBC_dom	Domain
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR022164	Kinesin-like	Domain
IPR035969	Rab-GAP_TBC_sf	Homologous_superfamily
IPR050302	Rab_GAP_TBC_domain	Family

Pfam: PF00566, PF00640, PF12473

UniProt features (46 total): helix 22, splice variant 6, turn 4, modified residue 3, compositionally biased region 3, domain 2, site 2, region of interest 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4NC6	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3P9-F1	77.33	0.42

Functional residue map

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

Catalytic / active sites (2): 649 (glutamine finger); 608 (arginine finger)

Post-translational modifications (3): 42, 360, 996

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8854214	TBC/RABGAPs

MSigDB gene sets: 207 (showing top): GCACCTT_MIR18A_MIR18B, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_GTPASE_ACTIVITY, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, CTATGCA_MIR153, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GATA3_01

GO Biological Process (1): regulation of GTPase activity (GO:0043087)

GO Molecular Function (4): GTPase activator activity (GO:0005096), tubulin binding (GO:0015631), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (5): centrosome (GO:0005813), cytosol (GO:0005829), microtubule associated complex (GO:0005875), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase activity	2
cellular anatomical structure	2
regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
cytoskeletal protein binding	1
GTPase binding	1
binding	1
centriole	1
microtubule organizing center	1
cytoplasm	1
microtubule cytoskeleton	1
protein-containing complex	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1104 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RABGAP1	RAB36	O95755	613
RABGAP1	TUFT1	Q9NNX1	584
RABGAP1	TBC1D20	Q96BZ9	565
RABGAP1	RAB10	P61026	520
RABGAP1	RAB6A	P20340	517
RABGAP1	RAB2A	P08886	514
RABGAP1	IQGAP3	Q86VI3	505
RABGAP1	RAB22A	Q9UL26	501
RABGAP1	MYO9B	Q13459	499
RABGAP1	GRIP2	Q9C0E4	497
RABGAP1	GTF2F1	P35269	487
RABGAP1	SYPL1	Q16563	474
RABGAP1	AKAP6	Q13023	463
RABGAP1	F5GZY7	F5GZY7	454
RABGAP1	ZNF668	Q96K58	451

IntAct

101 interactions, top by confidence:

A	B	Type	Score
NUF2	NDC80	psi-mi:“MI:0914”(association)	0.950
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CCDC68	NDC80	psi-mi:“MI:0914”(association)	0.640
WIPI2	BNIP3L	psi-mi:“MI:0914”(association)	0.640
GABARAPL1	IPO5	psi-mi:“MI:0914”(association)	0.590
RABGAP1	RABGAP1L	psi-mi:“MI:0914”(association)	0.560
RABGAP1	RABGAP1L	psi-mi:“MI:0915”(physical association)	0.560
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
WASHC3	WASH3P	psi-mi:“MI:0914”(association)	0.530
TSKS	RGPD8	psi-mi:“MI:0914”(association)	0.530
LIMS1	TYMS	psi-mi:“MI:0914”(association)	0.530
CORO1A	VARS1	psi-mi:“MI:0914”(association)	0.530
GGA1	CLCN3	psi-mi:“MI:0914”(association)	0.530
PPP1R13B	CCDC85C	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
KIR2DS2	RHOBTB3	psi-mi:“MI:0914”(association)	0.530
LSM4	PRMT5	psi-mi:“MI:0914”(association)	0.530
GABARAPL1	RABGAP1	psi-mi:“MI:0915”(physical association)	0.500
STAT3	RABGAP1	psi-mi:“MI:0915”(physical association)	0.490
RABGAP1	STAT3	psi-mi:“MI:0915”(physical association)	0.490
env	PGRMC1	psi-mi:“MI:0914”(association)	0.460

BioGRID (169): RABGAP1 (Biochemical Activity), RABGAP1 (Biochemical Activity), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), ORC2 (Co-fractionation), RABGAP1 (Affinity Capture-MS), RABGAP1 (Two-hybrid), RABGAP1 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8C0TYJ0, A0A8I5ZNK2, A2AWA9, A6QQZ7, A8KBF6, O55047, O88506, O95747, P20936, P23727, P26450, P27986, P31016, P78352, Q08CW1, Q08E27, Q12959, Q15139, Q15700, Q1ECX4, Q28C55, Q5PYH5, Q5PYH6, Q5PYH7, Q5R372, Q5R495, Q5R685, Q5R6Y5, Q5RAN1, Q5RCW6, Q5SRX1, Q5T2T1, Q5U2Y3, Q5ZIL4, Q5ZMW5, Q62101, Q62108, Q62696, Q63622, Q68FK8

Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A6H6A9, A6NDS4, A6NER0, B9A6J9, H2KZZ6, P0C7X1, P35125, Q2M2D7, Q5RAN1, Q5SVR0, Q66K14, Q6DHY5, Q6IPX1, Q80XC3, Q86UD7, Q8IZP1, Q92738, Q9UFV1, Q9Y3P9, A3KGB4, A6QP29, B0R0W9, B7ZAP0, O60343, O60447, O95759, O97790, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 115 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
TBC/RABGAPs	7	24.9×	5e-06
Macroautophagy	6	9.5×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	7	22.9×	1e-05
autophagosome maturation	6	21.7×	1e-04
autophagosome assembly	6	13.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	103
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3632985	NM_012197.4(RABGAP1):c.2677C>T (p.Gln893Ter)	Pathogenic
4813356	NM_012197.4(RABGAP1):c.2628+1G>A	Likely pathogenic

SpliceAI

5065 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122957205:TCAAG:T	donor_loss	1.0000
9:122957206:CAAG:C	donor_loss	1.0000
9:122957207:AAGG:A	donor_loss	1.0000
9:122957208:AGGT:A	donor_loss	1.0000
9:122957210:G:GA	donor_loss	1.0000
9:122957211:T:A	donor_loss	1.0000
9:122984609:GAGA:G	donor_gain	1.0000
9:122984717:G:GT	donor_gain	1.0000
9:122986210:TTCA:T	acceptor_loss	1.0000
9:122986211:TCA:T	acceptor_loss	1.0000
9:122986213:A:AG	acceptor_gain	1.0000
9:122986213:A:AT	acceptor_loss	1.0000
9:122986214:G:GA	acceptor_gain	1.0000
9:122986416:TGAG:T	donor_loss	1.0000
9:122986418:AGGTG:A	donor_loss	1.0000
9:122986419:GGTGA:G	donor_loss	1.0000
9:122986420:GTGA:G	donor_loss	1.0000
9:122989290:T:TA	acceptor_gain	1.0000
9:122989295:A:AG	acceptor_gain	1.0000
9:122989295:AGAC:A	acceptor_loss	1.0000
9:122989296:G:GA	acceptor_gain	1.0000
9:122989296:GA:G	acceptor_gain	1.0000
9:122989296:GAC:G	acceptor_gain	1.0000
9:122989296:GACT:G	acceptor_gain	1.0000
9:122989467:AAGCT:A	donor_gain	1.0000
9:122989468:AGCT:A	donor_gain	1.0000
9:122989469:GCT:G	donor_gain	1.0000
9:122989469:GCTG:G	donor_gain	1.0000
9:122989470:CT:C	donor_gain	1.0000
9:122989472:G:GG	donor_gain	1.0000

AlphaMissense

7087 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122986386:T:C	L186P	1.000
9:122989401:C:A	A232D	1.000
9:122996543:T:C	F347L	1.000
9:122996545:T:A	F347L	1.000
9:122996545:T:G	F347L	1.000
9:122996546:G:C	G348R	1.000
9:122996547:G:A	G348D	1.000
9:122996553:T:C	L350P	1.000
9:122997310:T:A	W385R	1.000
9:122997310:T:C	W385R	1.000
9:122998620:G:C	A410P	1.000
9:122998657:T:A	V422D	1.000
9:122998663:T:C	F424S	1.000
9:123015563:A:C	S524R	1.000
9:123015564:G:A	S524N	1.000
9:123015565:T:A	S524R	1.000
9:123015565:T:G	S524R	1.000
9:123015566:G:A	G525R	1.000
9:123015566:G:C	G525R	1.000
9:123015567:G:A	G525E	1.000
9:123015567:G:T	G525V	1.000
9:123015572:G:C	G527R	1.000
9:123015573:G:A	G527D	1.000
9:123015606:T:C	L538P	1.000
9:123015614:T:A	W541R	1.000
9:123015614:T:C	W541R	1.000
9:123015616:G:C	W541C	1.000
9:123015616:G:T	W541C	1.000
9:123015635:T:A	W548R	1.000
9:123015635:T:C	W548R	1.000

dbSNP variants (sampled 300 via entrez): RS1000003238 (9:122993166 A>C,G), RS1000024059 (9:123036317 G>A), RS1000035499 (9:122940817 C>T), RS1000054792 (9:123036678 A>G), RS1000142970 (9:123090268 C>G,T), RS1000145060 (9:122945809 A>AG), RS1000165625 (9:123063522 A>T), RS1000190065 (9:122969147 T>A), RS1000190344 (9:123047171 T>C,G), RS1000201682 (9:122936084 C>G), RS1000210573 (9:123052927 G>A), RS1000247619 (9:123098911 TC>T), RS1000252554 (9:122935810 A>G), RS1000272106 (9:123079531 A>C), RS1000282881 (9:123079832 C>A,T)

Disease associations

OMIM: gene MIM:615882 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal recessive
complex neurodevelopmental disorder	Moderate	Autosomal recessive

Mondo (2): neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST005951_64	Body mass index	2.000000e-10
GCST007095_17	Systolic blood pressure	2.000000e-06
GCST007096_189	Pulse pressure	2.000000e-12
GCST007097_11	Pulse pressure	3.000000e-06
GCST007097_12	Pulse pressure	1.000000e-07
GCST007099_133	Systolic blood pressure	4.000000e-09
GCST007269_180	Pulse pressure	2.000000e-10
GCST008362_190	Birth weight	6.000000e-16
GCST009616_3	HDL cholesterol levels x thiazide or thiazide-like diuretics use interaction	7.000000e-07
GCST010703_296	Brain morphology (MOSTest)	2.000000e-14

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0004344	birth weight
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9032	RABGAP1	3	0.00	1	methylphenidate

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	decreases expression, increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
Cadmium Chloride	increases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
arsenite	affects binding, decreases reaction	1
tetrabromobisphenol A	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1
Furaldehyde	affects cotreatment, affects localization, decreases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Selenium	decreases expression	1
Silicon Dioxide	increases expression	1
Sodium Chloride	affects cotreatment, affects localization, decreases expression	1
Vitamin E	decreases 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_TI31	HAP1 RABGAP1 (-) 1	Cancer cell line	Male
CVCL_TI32	HAP1 RABGAP1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice