CHERP (calcium homeostasis endoplasmic reticulum protein)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10523
• Gene name: Calcium homeostasis endoplasmic reticulum protein
• Gene symbol: CHERP
• Synonyms (NCBI Gene): DAN16, SCAF6, SRA1
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA Show/Hide all (295)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025448	hsa-miR-34a-5p	Proteomics	21566225
MIRT025448	hsa-miR-34a-5p	Proteomics	21566225
MIRT029474	hsa-miR-26b-5p	Sequencing	20371350
MIRT051279	hsa-miR-16-5p	CLASH	23622248
MIRT040284	hsa-miR-615-3p	CLASH	23622248
MIRT040284	hsa-miR-615-3p	CLASH	23622248
MIRT720545	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT720544	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT720543	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT347165	hsa-miR-6510-5p	HITS-CLIP	19536157
MIRT720542	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT720541	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT720540	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT720539	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT720538	hsa-miR-3666	HITS-CLIP	19536157
MIRT720537	hsa-miR-4295	HITS-CLIP	19536157
MIRT720536	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT199753	hsa-miR-1323	HITS-CLIP	19536157
MIRT199756	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT720535	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT720534	hsa-miR-548aj-5p	HITS-CLIP	19536157
MIRT720533	hsa-miR-548f-5p	HITS-CLIP	19536157
MIRT720532	hsa-miR-548g-5p	HITS-CLIP	19536157
MIRT720531	hsa-miR-548x-5p	HITS-CLIP	19536157
MIRT720530	hsa-miR-1468-3p	HITS-CLIP	19536157
MIRT291961	hsa-miR-19a-3p	HITS-CLIP	19536157
MIRT291962	hsa-miR-19b-3p	HITS-CLIP	19536157
MIRT720529	hsa-miR-548aw	HITS-CLIP	19536157
MIRT720528	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT568060	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT406572	hsa-miR-607	PAR-CLIP	20371350
MIRT291956	hsa-miR-1305	PAR-CLIP	20371350
MIRT347157	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT558754	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT558752	hsa-miR-3973	PAR-CLIP	21572407
MIRT558753	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT558751	hsa-miR-520h	PAR-CLIP	21572407
MIRT558750	hsa-miR-4743-3p	PAR-CLIP	21572407
MIRT558748	hsa-miR-4652-3p	PAR-CLIP	21572407
MIRT558749	hsa-miR-2113	PAR-CLIP	21572407
MIRT558747	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT720545	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT720544	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT720543	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT347165	hsa-miR-6510-5p	HITS-CLIP	19536157
MIRT720542	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT720541	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT720540	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT720539	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT720538	hsa-miR-3666	HITS-CLIP	19536157
MIRT720537	hsa-miR-4295	HITS-CLIP	19536157
MIRT720536	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT199753	hsa-miR-1323	HITS-CLIP	19536157
MIRT199756	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT720535	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT720534	hsa-miR-548aj-5p	HITS-CLIP	19536157
MIRT720533	hsa-miR-548f-5p	HITS-CLIP	19536157
MIRT720532	hsa-miR-548g-5p	HITS-CLIP	19536157
MIRT720531	hsa-miR-548x-5p	HITS-CLIP	19536157
MIRT720530	hsa-miR-1468-3p	HITS-CLIP	19536157
MIRT291961	hsa-miR-19a-3p	HITS-CLIP	19536157
MIRT291962	hsa-miR-19b-3p	HITS-CLIP	19536157
MIRT720529	hsa-miR-548aw	HITS-CLIP	19536157
MIRT720528	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT568060	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT406572	hsa-miR-607	PAR-CLIP	20371350
MIRT291956	hsa-miR-1305	PAR-CLIP	20371350
MIRT347157	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT558754	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT558752	hsa-miR-3973	PAR-CLIP	21572407
MIRT558753	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT558751	hsa-miR-520h	PAR-CLIP	21572407
MIRT558750	hsa-miR-4743-3p	PAR-CLIP	21572407
MIRT558748	hsa-miR-4652-3p	PAR-CLIP	21572407
MIRT558749	hsa-miR-2113	PAR-CLIP	21572407
MIRT558747	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT889720	hsa-miR-1207-5p	CLIP-seq
MIRT889721	hsa-miR-1226	CLIP-seq
MIRT889722	hsa-miR-1236	CLIP-seq
MIRT889723	hsa-miR-1237	CLIP-seq
MIRT889724	hsa-miR-1248	CLIP-seq
MIRT889725	hsa-miR-130a	CLIP-seq
MIRT889726	hsa-miR-130b	CLIP-seq
MIRT889727	hsa-miR-1914	CLIP-seq
MIRT889728	hsa-miR-19a	CLIP-seq
MIRT889729	hsa-miR-19b	CLIP-seq
MIRT889730	hsa-miR-216a	CLIP-seq
MIRT889731	hsa-miR-221	CLIP-seq
MIRT889732	hsa-miR-222	CLIP-seq
MIRT889733	hsa-miR-2355-3p	CLIP-seq
MIRT889734	hsa-miR-25	CLIP-seq
MIRT889735	hsa-miR-27a	CLIP-seq
MIRT889736	hsa-miR-27b	CLIP-seq
MIRT889737	hsa-miR-2861	CLIP-seq
MIRT889738	hsa-miR-2964a-3p	CLIP-seq
MIRT889739	hsa-miR-301a	CLIP-seq
MIRT889740	hsa-miR-301b	CLIP-seq
MIRT889741	hsa-miR-3074-5p	CLIP-seq
MIRT889742	hsa-miR-3120-3p	CLIP-seq
MIRT889743	hsa-miR-3128	CLIP-seq
MIRT889744	hsa-miR-3183	CLIP-seq
MIRT889745	hsa-miR-32	CLIP-seq
MIRT889746	hsa-miR-3616-5p	CLIP-seq
MIRT889747	hsa-miR-363	CLIP-seq
MIRT889748	hsa-miR-3646	CLIP-seq
MIRT889749	hsa-miR-3647-5p	CLIP-seq
MIRT889750	hsa-miR-3663-5p	CLIP-seq
MIRT889751	hsa-miR-367	CLIP-seq
MIRT889752	hsa-miR-3671	CLIP-seq
MIRT889753	hsa-miR-3686	CLIP-seq
MIRT889754	hsa-miR-378g	CLIP-seq
MIRT889755	hsa-miR-3929	CLIP-seq
MIRT889756	hsa-miR-3934	CLIP-seq
MIRT889757	hsa-miR-3940-5p	CLIP-seq
MIRT889758	hsa-miR-3942-3p	CLIP-seq
MIRT889759	hsa-miR-4419b	CLIP-seq
MIRT889760	hsa-miR-4464	CLIP-seq
MIRT889761	hsa-miR-4478	CLIP-seq
MIRT889762	hsa-miR-4507	CLIP-seq
MIRT889763	hsa-miR-450b-5p	CLIP-seq
MIRT889764	hsa-miR-454	CLIP-seq
MIRT889765	hsa-miR-4640-5p	CLIP-seq
MIRT889766	hsa-miR-4641	CLIP-seq
MIRT889767	hsa-miR-4646-3p	CLIP-seq
MIRT889768	hsa-miR-4699-5p	CLIP-seq
MIRT889769	hsa-miR-4700-3p	CLIP-seq
MIRT889770	hsa-miR-4711-3p	CLIP-seq
MIRT889771	hsa-miR-4712-5p	CLIP-seq
MIRT889772	hsa-miR-4714-3p	CLIP-seq
MIRT889773	hsa-miR-4720-5p	CLIP-seq
MIRT889774	hsa-miR-4722-5p	CLIP-seq
MIRT889775	hsa-miR-4723-3p	CLIP-seq
MIRT889776	hsa-miR-4726-5p	CLIP-seq
MIRT889777	hsa-miR-4733-3p	CLIP-seq
MIRT889778	hsa-miR-4736	CLIP-seq
MIRT889779	hsa-miR-4748	CLIP-seq
MIRT889780	hsa-miR-4753-3p	CLIP-seq
MIRT889781	hsa-miR-4763-3p	CLIP-seq
MIRT889782	hsa-miR-4773	CLIP-seq
MIRT889783	hsa-miR-4790-3p	CLIP-seq
MIRT889784	hsa-miR-4795-5p	CLIP-seq
MIRT889785	hsa-miR-4799-3p	CLIP-seq
MIRT889786	hsa-miR-485-3p	CLIP-seq
MIRT889787	hsa-miR-487a	CLIP-seq
MIRT889788	hsa-miR-507	CLIP-seq
MIRT889789	hsa-miR-513a-5p	CLIP-seq
MIRT889790	hsa-miR-519a	CLIP-seq
MIRT889791	hsa-miR-520g	CLIP-seq
MIRT889792	hsa-miR-545	CLIP-seq
MIRT889793	hsa-miR-548o	CLIP-seq
MIRT889794	hsa-miR-548v	CLIP-seq
MIRT889795	hsa-miR-557	CLIP-seq
MIRT889796	hsa-miR-561	CLIP-seq
MIRT889797	hsa-miR-573	CLIP-seq
MIRT889798	hsa-miR-599	CLIP-seq
MIRT889799	hsa-miR-644	CLIP-seq
MIRT889800	hsa-miR-663b	CLIP-seq
MIRT889801	hsa-miR-664	CLIP-seq
MIRT889802	hsa-miR-675	CLIP-seq
MIRT889803	hsa-miR-7	CLIP-seq
MIRT889804	hsa-miR-744	CLIP-seq
MIRT889805	hsa-miR-767-5p	CLIP-seq
MIRT889806	hsa-miR-770-5p	CLIP-seq
MIRT889807	hsa-miR-885-3p	CLIP-seq
MIRT889808	hsa-miR-92a	CLIP-seq
MIRT889809	hsa-miR-92b	CLIP-seq
MIRT889810	hsa-miR-939	CLIP-seq
MIRT889811	hsa-miR-942	CLIP-seq
MIRT1963624	hsa-miR-1204	CLIP-seq
MIRT889720	hsa-miR-1207-5p	CLIP-seq
MIRT1963625	hsa-miR-1296	CLIP-seq
MIRT889725	hsa-miR-130a	CLIP-seq
MIRT889726	hsa-miR-130b	CLIP-seq
MIRT1963626	hsa-miR-142-5p	CLIP-seq
MIRT1963627	hsa-miR-149	CLIP-seq
MIRT1963628	hsa-miR-183	CLIP-seq
MIRT1963629	hsa-miR-188-5p	CLIP-seq
MIRT1963630	hsa-miR-1909	CLIP-seq
MIRT1963631	hsa-miR-1972	CLIP-seq
MIRT889728	hsa-miR-19a	CLIP-seq
MIRT889729	hsa-miR-19b	CLIP-seq
MIRT889733	hsa-miR-2355-3p	CLIP-seq
MIRT1963632	hsa-miR-24	CLIP-seq
MIRT889735	hsa-miR-27a	CLIP-seq
MIRT889736	hsa-miR-27b	CLIP-seq
MIRT1963633	hsa-miR-2909	CLIP-seq
MIRT1963634	hsa-miR-300	CLIP-seq
MIRT889739	hsa-miR-301a	CLIP-seq
MIRT889740	hsa-miR-301b	CLIP-seq
MIRT1963635	hsa-miR-3064-5p	CLIP-seq
MIRT889741	hsa-miR-3074-5p	CLIP-seq
MIRT889743	hsa-miR-3128	CLIP-seq
MIRT1963636	hsa-miR-3176	CLIP-seq
MIRT1963637	hsa-miR-3185	CLIP-seq
MIRT1963638	hsa-miR-340	CLIP-seq
MIRT1963639	hsa-miR-345	CLIP-seq
MIRT1963640	hsa-miR-3667-3p	CLIP-seq
MIRT889752	hsa-miR-3671	CLIP-seq
MIRT1963641	hsa-miR-3676	CLIP-seq
MIRT1963642	hsa-miR-3677-3p	CLIP-seq
MIRT889754	hsa-miR-378g	CLIP-seq
MIRT1963643	hsa-miR-381	CLIP-seq
MIRT1963644	hsa-miR-3922-3p	CLIP-seq
MIRT889755	hsa-miR-3929	CLIP-seq
MIRT889757	hsa-miR-3940-5p	CLIP-seq
MIRT1963645	hsa-miR-4284	CLIP-seq
MIRT1963646	hsa-miR-4287	CLIP-seq
MIRT889759	hsa-miR-4419b	CLIP-seq
MIRT1963647	hsa-miR-4436b-3p	CLIP-seq
MIRT889761	hsa-miR-4478	CLIP-seq
MIRT1963648	hsa-miR-4493	CLIP-seq
MIRT889762	hsa-miR-4507	CLIP-seq
MIRT889764	hsa-miR-454	CLIP-seq
MIRT889767	hsa-miR-4646-3p	CLIP-seq
MIRT1963649	hsa-miR-4650-5p	CLIP-seq
MIRT1963650	hsa-miR-4660	CLIP-seq
MIRT1963651	hsa-miR-4666-3p	CLIP-seq
MIRT1963652	hsa-miR-4667-3p	CLIP-seq
MIRT1963653	hsa-miR-4685-3p	CLIP-seq
MIRT1963654	hsa-miR-4699-3p	CLIP-seq
MIRT889769	hsa-miR-4700-3p	CLIP-seq
MIRT889773	hsa-miR-4720-5p	CLIP-seq
MIRT889774	hsa-miR-4722-5p	CLIP-seq
MIRT889778	hsa-miR-4736	CLIP-seq
MIRT1963655	hsa-miR-4757-5p	CLIP-seq
MIRT1963656	hsa-miR-4761-3p	CLIP-seq
MIRT889781	hsa-miR-4763-3p	CLIP-seq
MIRT889782	hsa-miR-4773	CLIP-seq
MIRT1963657	hsa-miR-4787-5p	CLIP-seq
MIRT1963658	hsa-miR-4789-5p	CLIP-seq
MIRT1963659	hsa-miR-4794	CLIP-seq
MIRT889785	hsa-miR-4799-3p	CLIP-seq
MIRT889789	hsa-miR-513a-5p	CLIP-seq
MIRT889790	hsa-miR-519a	CLIP-seq
MIRT889793	hsa-miR-548o	CLIP-seq
MIRT889794	hsa-miR-548v	CLIP-seq
MIRT1963660	hsa-miR-646	CLIP-seq
MIRT889801	hsa-miR-664	CLIP-seq
MIRT889802	hsa-miR-675	CLIP-seq
MIRT1963661	hsa-miR-708	CLIP-seq
MIRT889804	hsa-miR-744	CLIP-seq
MIRT889810	hsa-miR-939	CLIP-seq
MIRT1963624	hsa-miR-1204	CLIP-seq
MIRT889725	hsa-miR-130a	CLIP-seq
MIRT889726	hsa-miR-130b	CLIP-seq
MIRT2199999	hsa-miR-181a	CLIP-seq
MIRT2200000	hsa-miR-181b	CLIP-seq
MIRT2200001	hsa-miR-181c	CLIP-seq
MIRT2200002	hsa-miR-181d	CLIP-seq
MIRT1963629	hsa-miR-188-5p	CLIP-seq
MIRT1963630	hsa-miR-1909	CLIP-seq
MIRT889728	hsa-miR-19a	CLIP-seq
MIRT889729	hsa-miR-19b	CLIP-seq
MIRT889731	hsa-miR-221	CLIP-seq
MIRT889732	hsa-miR-222	CLIP-seq
MIRT889733	hsa-miR-2355-3p	CLIP-seq
MIRT1963634	hsa-miR-300	CLIP-seq
MIRT889739	hsa-miR-301a	CLIP-seq
MIRT889740	hsa-miR-301b	CLIP-seq
MIRT889742	hsa-miR-3120-3p	CLIP-seq
MIRT2200003	hsa-miR-3140-5p	CLIP-seq
MIRT2200004	hsa-miR-3180-5p	CLIP-seq
MIRT1963637	hsa-miR-3185	CLIP-seq
MIRT2200005	hsa-miR-3191	CLIP-seq
MIRT2200006	hsa-miR-3194-5p	CLIP-seq
MIRT889748	hsa-miR-3646	CLIP-seq
MIRT1963642	hsa-miR-3677-3p	CLIP-seq
MIRT889754	hsa-miR-378g	CLIP-seq
MIRT1963643	hsa-miR-381	CLIP-seq
MIRT889757	hsa-miR-3940-5p	CLIP-seq
MIRT2200007	hsa-miR-4262	CLIP-seq
MIRT889762	hsa-miR-4507	CLIP-seq
MIRT889764	hsa-miR-454	CLIP-seq
MIRT889767	hsa-miR-4646-3p	CLIP-seq
MIRT1963651	hsa-miR-4666-3p	CLIP-seq
MIRT889768	hsa-miR-4699-5p	CLIP-seq
MIRT1963658	hsa-miR-4789-5p	CLIP-seq
MIRT889786	hsa-miR-485-3p	CLIP-seq
MIRT889787	hsa-miR-487a	CLIP-seq
MIRT889790	hsa-miR-519a	CLIP-seq
MIRT2200008	hsa-miR-520a-5p	CLIP-seq
MIRT2200009	hsa-miR-525-5p	CLIP-seq
MIRT889792	hsa-miR-545	CLIP-seq
MIRT889793	hsa-miR-548o	CLIP-seq
MIRT889803	hsa-miR-7	CLIP-seq
MIRT889725	hsa-miR-130a	CLIP-seq
MIRT889726	hsa-miR-130b	CLIP-seq
MIRT1963630	hsa-miR-1909	CLIP-seq
MIRT889728	hsa-miR-19a	CLIP-seq
MIRT889729	hsa-miR-19b	CLIP-seq
MIRT889739	hsa-miR-301a	CLIP-seq
MIRT889740	hsa-miR-301b	CLIP-seq
MIRT889764	hsa-miR-454	CLIP-seq
MIRT889790	hsa-miR-519a	CLIP-seq
MIRT889793	hsa-miR-548o	CLIP-seq

Gene ontology (GO) Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 26420826, 30021884, 32296183, 35271311, 39251607
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10794731, 12656674
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006396	Process	RNA processing	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	10794731
GO:0007399	Process	Nervous system development	TAS	8896557
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	10794731
GO:0016020	Component	Membrane	HDA	19946888
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0044325	Function	Transmembrane transporter binding	IPI	21454501
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12656674
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	12656674
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IMP	12656674

Other IDs

• MIM: 618539
• HGNC: 16930
• e!Ensembl: ENSG00000085872

Protein

• UniProt ID: Q8IWX8
• Protein name: Calcium homeostasis endoplasmic reticulum protein (ERPROT 213-21) (SR-related CTD-associated factor 6)
• Protein function: Involved in calcium homeostasis, growth and proliferation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01585	G-patch	841 → 889	G-patch domain	Family
  PF01805	Surp	13 → 61	Surp module	Family
  PF04818	CID	159 → 281	CID domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, placenta, lung, liver, kidney, pancreas, cardiac and skeletal muscle, and in cultured HEL and Dami cells. {ECO:0000269|PubMed:10794731}.
• Sequence:

  MEMPLPPDDQELRNVIDKLAQFVARNGPEFEKMTMEKQKDNPKFSFLFGGEFYSYYKCKL
  ALEQQQLICKQQTPELEPAATMPPLPQPPLAPAAPIPPAQGAPSMDELIQQSQWNLQQQE
  QHLLALRQEQVTAAVAHAVEQQMQKLLEETQLDMNEFDNLLQPIIDTCTKDAISAGKNWM
  FSNAKSPPHCELMAGHLRNRITADGAHFELRLHLIYLINDVLHHCQRKQARELLAALQKV
  VVPIYCTSFLAVEEDKQQKIARLLQLWEKNGYFDDSIIQQLQSPALGLGQYQATLINEYS
  SVVQPVQLAFQQQIQTLKTQHEEFVTSLAQQQQQQQQQQQQLQMPQMEAEVKATPPPPAP
  PPAPAPAPAIPPTTQPDDSKPPIQMPGSSEYEAPGGVQDPAAAGPRGPGPHDQIPPNKPP
  WFDQPHPVAPWGQQQPPEQPPYPHHQGGPPHCPPWNNSHEGMWGEQRGDPGWNGQRDAPW
  NNQPDAAWNSQFEGPWNSQHEQPPWGGGQREPPFRMQRPPHFRGPFPPHQQHPQFNQPPH
  PHNFNRFPPRFMQDDFPPRHPFERPPYPHRFDYPQGDFPAEMGPPHHHPGHRMPHPGINE
  HPPWAGPQHPDFGPPPHGFNGQPPHMRRQGPPHINHDDPSLVPNVPYFDLPAGLMAPLVK
  LEDHEYKPLDPKDIRLPPPMPPSERLLAAVEAFYSPPSHDRPRNSEGWEQNGLYEFFRAK
  MRARRRKGQEKRNSGPSRSRSRSKSRGRSSSRSNSRSSKSSGSYSRSRSRSCSRSYSRSR
  SRSRSRSRSSRSRSRSQSRSRSKSYSPGRRRRSRSRSPTPPSSAGLGSNSAPPIPDSRLG
  EENKGHQMLVKMGWSGSGGLGAKEQGIQDPIKGGDVRDKWDQYKGVGVALDDPYENYRRN
  KSYSFIARMKARDECK

• Sequence length: 916

Pathways

KEGG Pathway:

Spliceosome

Reactome Pathway:

mRNA Splicing - Major Pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cerebrovascular accident	Stroke	BEFREE	29402816		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25186548		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30977118		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29113358		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PQBP1 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. SMNDC1 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. BCAS2 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. SF3A1 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. PPIH 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PQBP1	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
SMNDC1	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
BCAS2	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
SF3A1	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
PPIH	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]

Diseases Linked via Similar Genes

Autism Linked via 2 of 5 related genesPQBP1, BCAS2 Atrial septal defect Linked via 1 of 5 related genesPQBP1 Growth disorder Linked via 1 of 5 related genesPQBP1 Congenital heart septal defect Linked via 1 of 5 related genesPQBP1 Intellectual developmental disorder Linked via 1 of 5 related genesPQBP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	2	["PQBP1","BCAS2"]
Atrial septal defect	1	["PQBP1"]
Growth disorder	1	["PQBP1"]
Congenital heart septal defect	1	["PQBP1"]
Intellectual developmental disorder	1	["PQBP1"]