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	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

Gene summary for AHI1

Gene summary

Gene information	Gene symbol	AHI1
	Gene ID	54806
	Gene name	Abelson helper integration site 1
	Synonyms	AHI-1|JBTS3|ORF1|dJ71N10.1
	Cytomap	6q23.3
	Type of gene	protein-coding
	Description	jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains
	Modification date	20200313
	UniProtAcc	E9PI51, E9PML3, H0Y343, H0YDL1, H0YE01, H0YEF1, Q8N157, Q9NQN3,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for AHI1

Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

ENSG00000135541

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	UP	ENST00000367799.6	AHI1-203:protein_coding:AHI1	1.067586e+02	1.682676e+00	4.091167e-12	4.779994e-10
CB	DOWN	ENST00000527681.1	AHI1-211:nonsense_mediated_decay:AHI1	2.078405e+01	-1.386900e+00	3.428788e-05	2.987101e-04
CB	UP	ENST00000524469.5	AHI1-210:protein_coding:AHI1	5.549304e+00	2.677590e+00	2.486606e-03	1.103991e-02
TC	DOWN	ENST00000527681.1	AHI1-211:nonsense_mediated_decay:AHI1	1.963695e+01	-1.042606e+00	3.080620e-04	3.928411e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AHI1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_104191	chr6	135427167:135427307:135428629:135428759:135429882:135430000	135428629:135428759
exon_skip_112712	chr6	135428629:135428759:135429882:135430000:135431208:135431314	135429882:135430000
exon_skip_115406	chr6	135300500:135300558:135301408:135301539:135302712:135302753	135301408:135301539
exon_skip_118175	chr6	135285579:135285647:135286399:135286548:135290423:135290525	135286399:135286548
exon_skip_123627	chr6	135495539:135495709:135495814:135495898:135497188:135497247	135495814:135495898
exon_skip_134101	chr6	135495814:135495898:135497188:135497249:135497583:135497649	135497188:135497249
exon_skip_13863	chr6	135492252:135492291:135495539:135495709:135495814:135495898	135495539:135495709
exon_skip_146254	chr6	135492252:135492291:135497188:135497249:135497583:135497649	135497188:135497249
exon_skip_146409	chr6	135358132:135358187:135394776:135394896:135404951:135404977	135394776:135394896
exon_skip_150665	chr6	135285579:135285647:135290423:135290525:135300500:135300532	135290423:135290525
exon_skip_161496	chr6	135457494:135457713:135463125:135463306:135465814:135466373	135463125:135463306
exon_skip_197155	chr6	135290423:135290525:135297432:135297492:135300500:135300532	135297432:135297492
exon_skip_210535	chr6	135285381:135285647:135286399:135286548:135290423:135290525	135286399:135286548
exon_skip_214023	chr6	135285381:135285647:135290423:135290525:135300500:135300532	135290423:135290525
exon_skip_246164	chr6	135323162:135323324:135358132:135358187:135394776:135394896	135358132:135358187
exon_skip_256266	chr6	135492252:135492291:135495814:135495898:135497188:135497247	135495814:135495898
exon_skip_262608	chr6	135300500:135300558:135301408:135301539:135302712:135302817	135301408:135301539
exon_skip_263969	chr6	135492252:135492291:135495814:135495898:135497188:135497249	135495814:135495898
exon_skip_293587	chr6	135495539:135495709:135495814:135495898:135497188:135497249	135495814:135495898
exon_skip_39433	chr6	135431208:135431314:135433027:135433256:135438375:135438498	135433027:135433256
exon_skip_47564	chr6	135300502:135300558:135301408:135301539:135302712:135302753	135301408:135301539
exon_skip_54655	chr6	135455734:135455926:135457494:135457713:135463125:135463280	135457494:135457713
exon_skip_55754	chr6	135285605:135285647:135290423:135290525:135300500:135300532	135290423:135290525
exon_skip_58405	chr6	135433027:135433256:135435157:135435232:135438375:135438498	135435157:135435232
exon_skip_5968	chr6	135466320:135466373:135467581:135467634:135490623:135490747	135467581:135467634
exon_skip_66559	chr6	135442582:135442714:135447008:135447160:135448290:135448414	135447008:135447160
exon_skip_67958	chr6	135318519:135318616:135323162:135323324:135358132:135358187	135323162:135323324
exon_skip_77298	chr6	135465814:135466373:135467581:135467634:135490623:135490747	135467581:135467634
exon_skip_84637	chr6	135394776:135394896:135404951:135404977:135411348:135411508	135404951:135404977
exon_skip_98453	chr6	135301408:135301539:135302712:135302817:135318519:135318616	135302712:135302817
exon_skip_99441	chr6	135285381:135285647:135290423:135290525:135297432:135297492	135290423:135290525

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.