Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54845
Gene name	Epithelial splicing regulatory protein 1
Gene symbol	ESRP1
Synonyms (NCBI Gene)	DFNB109RBM35ARMB35A
Chromosome	8
Chromosome location	8q22.1
Summary	ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554577339	ATGATAACACCGTAGTCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554577402	C>G	Pathogenic	Coding sequence variant, missense variant

325

Show/Hide all (325)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016986	hsa-miR-335-5p	Microarray	18185580
MIRT636556	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT636555	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT636554	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT636553	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT636552	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT636551	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT636550	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636549	hsa-miR-6516-5p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636557	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636556	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT636555	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT636554	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT636553	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT636552	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT636551	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT636550	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636549	hsa-miR-6516-5p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636556	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT636555	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT636554	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT636553	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT636552	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT636551	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT636550	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636549	hsa-miR-6516-5p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636557	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT636556	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT636555	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT636554	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT636553	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT636552	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT636551	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT636550	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT636549	hsa-miR-6516-5p	HITS-CLIP	23824327
MIRT610778	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT610777	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT610776	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT610775	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT610774	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT970740	hsa-miR-125a-3p	CLIP-seq
MIRT970741	hsa-miR-1827	CLIP-seq
MIRT970742	hsa-miR-25	CLIP-seq
MIRT970743	hsa-miR-3182	CLIP-seq
MIRT970744	hsa-miR-3192	CLIP-seq
MIRT970745	hsa-miR-3198	CLIP-seq
MIRT970746	hsa-miR-32	CLIP-seq
MIRT970747	hsa-miR-3591-5p	CLIP-seq
MIRT970748	hsa-miR-363	CLIP-seq
MIRT970749	hsa-miR-367	CLIP-seq
MIRT970750	hsa-miR-3934	CLIP-seq
MIRT970751	hsa-miR-4280	CLIP-seq
MIRT970752	hsa-miR-4282	CLIP-seq
MIRT970753	hsa-miR-4309	CLIP-seq
MIRT970754	hsa-miR-4314	CLIP-seq
MIRT970755	hsa-miR-4325	CLIP-seq
MIRT970756	hsa-miR-4646-5p	CLIP-seq
MIRT970757	hsa-miR-4652-3p	CLIP-seq
MIRT970758	hsa-miR-4653-3p	CLIP-seq
MIRT970759	hsa-miR-4661-5p	CLIP-seq
MIRT970760	hsa-miR-4666-5p	CLIP-seq
MIRT970761	hsa-miR-4735-5p	CLIP-seq
MIRT970762	hsa-miR-4752	CLIP-seq
MIRT970763	hsa-miR-4775	CLIP-seq
MIRT970764	hsa-miR-548ac	CLIP-seq
MIRT970765	hsa-miR-548ae	CLIP-seq
MIRT970766	hsa-miR-548aj	CLIP-seq
MIRT970767	hsa-miR-548am	CLIP-seq
MIRT970768	hsa-miR-548d-3p	CLIP-seq
MIRT970769	hsa-miR-548x	CLIP-seq
MIRT970770	hsa-miR-548z	CLIP-seq
MIRT970771	hsa-miR-576-5p	CLIP-seq
MIRT970772	hsa-miR-764	CLIP-seq
MIRT970773	hsa-miR-9	CLIP-seq
MIRT970774	hsa-miR-92a	CLIP-seq
MIRT970775	hsa-miR-92b	CLIP-seq
MIRT970776	hsa-miR-935	CLIP-seq
MIRT970777	hsa-miR-1231	CLIP-seq
MIRT970778	hsa-miR-124	CLIP-seq
MIRT970779	hsa-miR-1264	CLIP-seq
MIRT970780	hsa-miR-1276	CLIP-seq
MIRT970781	hsa-miR-181a	CLIP-seq
MIRT970782	hsa-miR-181b	CLIP-seq
MIRT970783	hsa-miR-181c	CLIP-seq
MIRT970784	hsa-miR-181d	CLIP-seq
MIRT970741	hsa-miR-1827	CLIP-seq
MIRT970742	hsa-miR-25	CLIP-seq
MIRT970785	hsa-miR-2681	CLIP-seq
MIRT970786	hsa-miR-298	CLIP-seq
MIRT970787	hsa-miR-300	CLIP-seq
MIRT970788	hsa-miR-3153	CLIP-seq
MIRT970789	hsa-miR-3163	CLIP-seq
MIRT970745	hsa-miR-3198	CLIP-seq
MIRT970746	hsa-miR-32	CLIP-seq
MIRT970790	hsa-miR-338-5p	CLIP-seq
MIRT970748	hsa-miR-363	CLIP-seq
MIRT970791	hsa-miR-3646	CLIP-seq
MIRT970749	hsa-miR-367	CLIP-seq
MIRT970792	hsa-miR-3689d	CLIP-seq
MIRT970793	hsa-miR-369-3p	CLIP-seq
MIRT970794	hsa-miR-3714	CLIP-seq
MIRT970795	hsa-miR-381	CLIP-seq
MIRT970796	hsa-miR-3910	CLIP-seq
MIRT970797	hsa-miR-3926	CLIP-seq
MIRT970798	hsa-miR-3942-3p	CLIP-seq
MIRT970799	hsa-miR-3945	CLIP-seq
MIRT970800	hsa-miR-4253	CLIP-seq
MIRT970801	hsa-miR-4262	CLIP-seq
MIRT970753	hsa-miR-4309	CLIP-seq
MIRT970755	hsa-miR-4325	CLIP-seq
MIRT970802	hsa-miR-4463	CLIP-seq
MIRT970803	hsa-miR-4477a	CLIP-seq
MIRT970756	hsa-miR-4646-5p	CLIP-seq
MIRT970758	hsa-miR-4653-3p	CLIP-seq
MIRT970759	hsa-miR-4661-5p	CLIP-seq
MIRT970804	hsa-miR-4662a-3p	CLIP-seq
MIRT970805	hsa-miR-4666-3p	CLIP-seq
MIRT970760	hsa-miR-4666-5p	CLIP-seq
MIRT970806	hsa-miR-4668-5p	CLIP-seq
MIRT970807	hsa-miR-4709-3p	CLIP-seq
MIRT970808	hsa-miR-4711-3p	CLIP-seq
MIRT970761	hsa-miR-4735-5p	CLIP-seq
MIRT970809	hsa-miR-491-3p	CLIP-seq
MIRT970810	hsa-miR-498	CLIP-seq
MIRT970811	hsa-miR-506	CLIP-seq
MIRT970812	hsa-miR-516b	CLIP-seq
MIRT970813	hsa-miR-548k	CLIP-seq
MIRT970814	hsa-miR-548n	CLIP-seq
MIRT970815	hsa-miR-548s	CLIP-seq
MIRT970771	hsa-miR-576-5p	CLIP-seq
MIRT970816	hsa-miR-581	CLIP-seq
MIRT970817	hsa-miR-592	CLIP-seq
MIRT970818	hsa-miR-599	CLIP-seq
MIRT970773	hsa-miR-9	CLIP-seq
MIRT970774	hsa-miR-92a	CLIP-seq
MIRT970775	hsa-miR-92b	CLIP-seq
MIRT970778	hsa-miR-124	CLIP-seq
MIRT1987598	hsa-miR-1272	CLIP-seq
MIRT1987599	hsa-miR-1303	CLIP-seq
MIRT1987600	hsa-miR-1322	CLIP-seq
MIRT970781	hsa-miR-181a	CLIP-seq
MIRT970782	hsa-miR-181b	CLIP-seq
MIRT970783	hsa-miR-181c	CLIP-seq
MIRT970784	hsa-miR-181d	CLIP-seq
MIRT1987601	hsa-miR-2052	CLIP-seq
MIRT1987602	hsa-miR-2113	CLIP-seq
MIRT1987603	hsa-miR-2355-3p	CLIP-seq
MIRT970742	hsa-miR-25	CLIP-seq
MIRT1987604	hsa-miR-297	CLIP-seq
MIRT1987605	hsa-miR-3123	CLIP-seq
MIRT1987606	hsa-miR-3149	CLIP-seq
MIRT1987607	hsa-miR-3165	CLIP-seq
MIRT970744	hsa-miR-3192	CLIP-seq
MIRT970746	hsa-miR-32	CLIP-seq
MIRT970748	hsa-miR-363	CLIP-seq
MIRT970749	hsa-miR-367	CLIP-seq
MIRT1987608	hsa-miR-3688-3p	CLIP-seq
MIRT970794	hsa-miR-3714	CLIP-seq
MIRT970796	hsa-miR-3910	CLIP-seq
MIRT1987609	hsa-miR-3925-5p	CLIP-seq
MIRT970798	hsa-miR-3942-3p	CLIP-seq
MIRT1987610	hsa-miR-4252	CLIP-seq
MIRT1987611	hsa-miR-4261	CLIP-seq
MIRT970801	hsa-miR-4262	CLIP-seq
MIRT1987612	hsa-miR-4307	CLIP-seq
MIRT970754	hsa-miR-4314	CLIP-seq
MIRT970755	hsa-miR-4325	CLIP-seq
MIRT970803	hsa-miR-4477a	CLIP-seq
MIRT1987613	hsa-miR-4496	CLIP-seq
MIRT1987614	hsa-miR-4646-3p	CLIP-seq
MIRT970756	hsa-miR-4646-5p	CLIP-seq
MIRT970804	hsa-miR-4662a-3p	CLIP-seq
MIRT1987615	hsa-miR-4747-3p	CLIP-seq
MIRT970762	hsa-miR-4752	CLIP-seq
MIRT1987616	hsa-miR-4753-3p	CLIP-seq
MIRT1987617	hsa-miR-4768-5p	CLIP-seq
MIRT1987618	hsa-miR-4795-3p	CLIP-seq
MIRT1987619	hsa-miR-483-3p	CLIP-seq
MIRT970811	hsa-miR-506	CLIP-seq
MIRT1987620	hsa-miR-5096	CLIP-seq
MIRT1987621	hsa-miR-539	CLIP-seq
MIRT1987622	hsa-miR-548a-3p	CLIP-seq
MIRT970764	hsa-miR-548ac	CLIP-seq
MIRT970765	hsa-miR-548ae	CLIP-seq
MIRT970766	hsa-miR-548aj	CLIP-seq
MIRT970767	hsa-miR-548am	CLIP-seq
MIRT970768	hsa-miR-548d-3p	CLIP-seq
MIRT1987623	hsa-miR-548e	CLIP-seq
MIRT1987624	hsa-miR-548f	CLIP-seq
MIRT970769	hsa-miR-548x	CLIP-seq
MIRT970770	hsa-miR-548z	CLIP-seq
MIRT1987625	hsa-miR-567	CLIP-seq
MIRT1987626	hsa-miR-582-3p	CLIP-seq
MIRT970774	hsa-miR-92a	CLIP-seq
MIRT970775	hsa-miR-92b	CLIP-seq
MIRT1987627	hsa-miR-944	CLIP-seq
MIRT2222011	hsa-miR-1202	CLIP-seq
MIRT2222012	hsa-miR-1207-3p	CLIP-seq
MIRT970778	hsa-miR-124	CLIP-seq
MIRT2222013	hsa-miR-1252	CLIP-seq
MIRT2222014	hsa-miR-1256	CLIP-seq
MIRT970779	hsa-miR-1264	CLIP-seq
MIRT2222015	hsa-miR-1297	CLIP-seq
MIRT1987599	hsa-miR-1303	CLIP-seq
MIRT970781	hsa-miR-181a	CLIP-seq
MIRT970782	hsa-miR-181b	CLIP-seq
MIRT970783	hsa-miR-181c	CLIP-seq
MIRT970784	hsa-miR-181d	CLIP-seq
MIRT970741	hsa-miR-1827	CLIP-seq
MIRT2222016	hsa-miR-200b	CLIP-seq
MIRT2222017	hsa-miR-200c	CLIP-seq
MIRT1987601	hsa-miR-2052	CLIP-seq
MIRT1987602	hsa-miR-2113	CLIP-seq
MIRT2222018	hsa-miR-23a	CLIP-seq
MIRT2222019	hsa-miR-23b	CLIP-seq
MIRT2222020	hsa-miR-23c	CLIP-seq
MIRT970742	hsa-miR-25	CLIP-seq
MIRT2222021	hsa-miR-26a	CLIP-seq
MIRT2222022	hsa-miR-26b	CLIP-seq
MIRT1987604	hsa-miR-297	CLIP-seq
MIRT1987605	hsa-miR-3123	CLIP-seq
MIRT1987606	hsa-miR-3149	CLIP-seq
MIRT970788	hsa-miR-3153	CLIP-seq
MIRT970789	hsa-miR-3163	CLIP-seq
MIRT2222023	hsa-miR-3185	CLIP-seq
MIRT970745	hsa-miR-3198	CLIP-seq
MIRT970746	hsa-miR-32	CLIP-seq
MIRT970790	hsa-miR-338-5p	CLIP-seq
MIRT2222024	hsa-miR-33a	CLIP-seq
MIRT2222025	hsa-miR-33b	CLIP-seq
MIRT970748	hsa-miR-363	CLIP-seq
MIRT2222026	hsa-miR-3647-3p	CLIP-seq
MIRT970749	hsa-miR-367	CLIP-seq
MIRT970794	hsa-miR-3714	CLIP-seq
MIRT970796	hsa-miR-3910	CLIP-seq
MIRT2222027	hsa-miR-3920	CLIP-seq
MIRT1987609	hsa-miR-3925-5p	CLIP-seq
MIRT970797	hsa-miR-3926	CLIP-seq
MIRT970798	hsa-miR-3942-3p	CLIP-seq
MIRT970799	hsa-miR-3945	CLIP-seq
MIRT2222028	hsa-miR-3972	CLIP-seq
MIRT970800	hsa-miR-4253	CLIP-seq
MIRT2222029	hsa-miR-4255	CLIP-seq
MIRT970801	hsa-miR-4262	CLIP-seq
MIRT2222030	hsa-miR-429	CLIP-seq
MIRT1987612	hsa-miR-4307	CLIP-seq
MIRT970753	hsa-miR-4309	CLIP-seq
MIRT2222031	hsa-miR-4317	CLIP-seq
MIRT970755	hsa-miR-4325	CLIP-seq
MIRT970802	hsa-miR-4463	CLIP-seq
MIRT2222032	hsa-miR-4465	CLIP-seq
MIRT970803	hsa-miR-4477a	CLIP-seq
MIRT970756	hsa-miR-4646-5p	CLIP-seq
MIRT970758	hsa-miR-4653-3p	CLIP-seq
MIRT970759	hsa-miR-4661-5p	CLIP-seq
MIRT970760	hsa-miR-4666-5p	CLIP-seq
MIRT970806	hsa-miR-4668-5p	CLIP-seq
MIRT970761	hsa-miR-4735-5p	CLIP-seq
MIRT2222033	hsa-miR-4742-5p	CLIP-seq
MIRT1987615	hsa-miR-4747-3p	CLIP-seq
MIRT970762	hsa-miR-4752	CLIP-seq
MIRT1987619	hsa-miR-483-3p	CLIP-seq
MIRT970810	hsa-miR-498	CLIP-seq
MIRT970811	hsa-miR-506	CLIP-seq
MIRT1987620	hsa-miR-5096	CLIP-seq
MIRT1987621	hsa-miR-539	CLIP-seq
MIRT970813	hsa-miR-548k	CLIP-seq
MIRT970814	hsa-miR-548n	CLIP-seq
MIRT970815	hsa-miR-548s	CLIP-seq
MIRT1987625	hsa-miR-567	CLIP-seq
MIRT970771	hsa-miR-576-5p	CLIP-seq
MIRT2222034	hsa-miR-628-5p	CLIP-seq
MIRT970773	hsa-miR-9	CLIP-seq
MIRT970774	hsa-miR-92a	CLIP-seq
MIRT970775	hsa-miR-92b	CLIP-seq
MIRT1987627	hsa-miR-944	CLIP-seq
MIRT970741	hsa-miR-1827	CLIP-seq
MIRT970745	hsa-miR-3198	CLIP-seq
MIRT1987608	hsa-miR-3688-3p	CLIP-seq
MIRT970753	hsa-miR-4309	CLIP-seq
MIRT970803	hsa-miR-4477a	CLIP-seq
MIRT970758	hsa-miR-4653-3p	CLIP-seq
MIRT970760	hsa-miR-4666-5p	CLIP-seq
MIRT1987616	hsa-miR-4753-3p	CLIP-seq
MIRT1987617	hsa-miR-4768-5p	CLIP-seq
MIRT970773	hsa-miR-9	CLIP-seq
MIRT1987608	hsa-miR-3688-3p	CLIP-seq
MIRT970803	hsa-miR-4477a	CLIP-seq
MIRT1987616	hsa-miR-4753-3p	CLIP-seq
MIRT1987617	hsa-miR-4768-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IDA	19285943
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	19285943
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0042669	Process	Regulation of inner ear auditory receptor cell fate specification	ISS
GO:0043484	Process	Regulation of RNA splicing	IBA
GO:0043484	Process	Regulation of RNA splicing	IDA	19285943
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA

MIM	HGNC	e!Ensembl
612959	25966	ENSG00000104413

Q6NXG1

Protein name

Epithelial splicing regulatory protein 1 (RNA-binding motif protein 35A) (RNA-binding protein 35A)

Protein function

mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 trans

PDB

2DHA , 2RVJ , 7VKI , 7VKJ , 7WRN

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Epithelial cell-specific. {ECO:0000269|PubMed:19285943}.

Sequence

MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLEL
TEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFCLCTDGQLHVRQILHP
EASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQ
VEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKMELIDDNTVVRARGLPWQSSDQD
IARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKA
TGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGIL
FVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAP
LIPLPTPPIIPVLPQQFVPPTNVRDCIRLRGLPYAATIEDILDFLGEFATDIRTHGVHMV
LNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSAEEMNFVLMGGTLNRN
GLSPPPCKLPCLSPPSYTFPAPAAVIPTEAAIYQPSVILNPRALQPSTAYYPAGTQLFMN
YTAYYPSPPGSPNSLGYFPTAANLSGVPPQPGTVVRMQGLAYNTGVKEILNFFQGYQYAT
EDGLIHTNDQARTLPKEWVCI

Sequence length

681

Interactions

View interactions

	Reactome
			Signaling by BRAF and RAF fusions FGFR2 alternative splicing

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss, autosomal recessive 109	Pathogenic	rs1554577339, rs1554577402	RCV000656490 RCV000656491	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEAFNESS, AUTOSOMAL RECESSIVE 109	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESRP1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	BEFREE	22585092, 23825128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29803834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23825128		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24077287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23129656, 26646320, 28300837, 30665944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26646320, 27911856, 30042172, 30665944, 31755218, 35887187, 36925195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34262011	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31570856, 31963158, 32964032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	34903603	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27500490, 30693177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35876041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28991261, 29131012		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31362365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31362365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28975893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	19177006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19177006, 27650542, 28052020, 28975893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27650542, 31951832, 31963158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33237836	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 109	Deafness	GENOMICS_ENGLAND_DG	29107558		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 109	Deafness	CLINVAR_DG	29107558		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 109	Deafness	UNIPROT_DG	29107558		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29131012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	29324788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	22585092, 23825128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	38303513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31963158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	27510923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34342121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23129656, 26646320, 28300837, 30665944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27500490, 30693177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28991261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24077287, 26077342, 27510923, 29137308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20526349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19177006, 24077287, 25143390, 28052020, 28300837, 28892075, 29431637, 30665944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31362365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23129656, 30665944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25169209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27045022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32964032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	25169209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17145811, 19177006, 23129656, 27045022, 27650542, 30537516, 30665944, 31362365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27119231, 29431637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30665944		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28991261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24077287, 26077342, 27510923, 29137308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24077287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	24077287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34285922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation	BEFREE	27071622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20526349, 30537509, 31478829, 33339518, 33455017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17145811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29107558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25143390, 31570856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34903603, 36307405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	24015231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28266048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31362365	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

ESRP1 (epithelial splicing regulatory protein 1)