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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55791
Gene name	Ligand dependent nuclear receptor interacting factor 1
Gene symbol	LRIF1
Synonyms (NCBI Gene)	C1orf103FSHD3HBiX1RIF1
Chromosome	1
Chromosome location	1p13.3

289

Show/Hide all (289)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020641	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT687669	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687668	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687667	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687666	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687665	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687664	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687663	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687662	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687661	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687660	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687659	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687658	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687657	hsa-miR-302e	HITS-CLIP	23313552
MIRT687656	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687655	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687654	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687653	hsa-miR-520b	HITS-CLIP	23313552
MIRT687652	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687651	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687650	hsa-miR-520e	HITS-CLIP	23313552
MIRT687649	hsa-miR-5683	HITS-CLIP	23313552
MIRT687648	hsa-miR-576-3p	HITS-CLIP	23313552
MIRT687647	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687646	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT687645	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687644	hsa-miR-520h	HITS-CLIP	23313552
MIRT687643	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT544260	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687642	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT687641	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT687640	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687639	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687638	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687637	hsa-miR-4252	HITS-CLIP	23313552
MIRT687636	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687635	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687634	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687633	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT687632	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT663063	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT663062	hsa-miR-1182	HITS-CLIP	23824327
MIRT663061	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT663060	hsa-miR-1208	HITS-CLIP	23824327
MIRT645904	hsa-miR-5193	HITS-CLIP	23824327
MIRT645905	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT663059	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT663058	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT663057	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT663056	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT663055	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT663054	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT645902	hsa-miR-2117	HITS-CLIP	23824327
MIRT663053	hsa-miR-4279	HITS-CLIP	23824327
MIRT645903	hsa-miR-4273	HITS-CLIP	23824327
MIRT645901	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT645900	hsa-miR-4677-5p	HITS-CLIP	23824327
MIRT645899	hsa-miR-3658	HITS-CLIP	23824327
MIRT645898	hsa-miR-6739-3p	HITS-CLIP	23824327
MIRT645904	hsa-miR-5193	HITS-CLIP	23824327
MIRT645905	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645902	hsa-miR-2117	HITS-CLIP	23824327
MIRT645903	hsa-miR-4273	HITS-CLIP	23824327
MIRT645901	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT645900	hsa-miR-4677-5p	HITS-CLIP	23824327
MIRT645899	hsa-miR-3658	HITS-CLIP	23824327
MIRT645898	hsa-miR-6739-3p	HITS-CLIP	23824327
MIRT619209	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT619208	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT619207	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT619206	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT619205	hsa-miR-1976	HITS-CLIP	23824327
MIRT619204	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT619203	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT619202	hsa-miR-1258	HITS-CLIP	23824327
MIRT544263	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT544262	hsa-miR-5588-3p	PAR-CLIP	21572407
MIRT544261	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT178982	hsa-miR-4310	PAR-CLIP	21572407
MIRT178984	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT544260	hsa-miR-186-3p	PAR-CLIP	21572407
MIRT544259	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT544258	hsa-miR-107	PAR-CLIP	21572407
MIRT544257	hsa-miR-1254	PAR-CLIP	21572407
MIRT544256	hsa-miR-3116	PAR-CLIP	21572407
MIRT544255	hsa-miR-661	PAR-CLIP	21572407
MIRT544254	hsa-miR-6894-3p	PAR-CLIP	21572407
MIRT544252	hsa-miR-6514-3p	PAR-CLIP	21572407
MIRT544253	hsa-miR-4774-3p	PAR-CLIP	21572407
MIRT544251	hsa-miR-3152-5p	PAR-CLIP	21572407
MIRT544250	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT020641	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020641	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT728127	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT728128	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT728126	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT728125	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT687669	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687668	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687667	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687666	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687665	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687664	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687663	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687662	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687661	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687660	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687659	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687658	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687657	hsa-miR-302e	HITS-CLIP	23313552
MIRT687656	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687655	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687654	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687653	hsa-miR-520b	HITS-CLIP	23313552
MIRT687652	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687651	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687650	hsa-miR-520e	HITS-CLIP	23313552
MIRT687649	hsa-miR-5683	HITS-CLIP	23313552
MIRT687648	hsa-miR-576-3p	HITS-CLIP	23313552
MIRT687647	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687646	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT687645	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687644	hsa-miR-520h	HITS-CLIP	23313552
MIRT687643	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT544260	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687642	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT687641	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT687640	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687639	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687638	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687637	hsa-miR-4252	HITS-CLIP	23313552
MIRT687636	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687635	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687634	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687633	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT687632	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT663063	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT663062	hsa-miR-1182	HITS-CLIP	23824327
MIRT663061	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT663060	hsa-miR-1208	HITS-CLIP	23824327
MIRT645904	hsa-miR-5193	HITS-CLIP	23824327
MIRT645905	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT663059	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT663058	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT663057	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT663056	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT663055	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT663054	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT645902	hsa-miR-2117	HITS-CLIP	23824327
MIRT663053	hsa-miR-4279	HITS-CLIP	23824327
MIRT645903	hsa-miR-4273	HITS-CLIP	23824327
MIRT645901	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT645900	hsa-miR-4677-5p	HITS-CLIP	23824327
MIRT645899	hsa-miR-3658	HITS-CLIP	23824327
MIRT645898	hsa-miR-6739-3p	HITS-CLIP	23824327
MIRT645904	hsa-miR-5193	HITS-CLIP	23824327
MIRT645905	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645902	hsa-miR-2117	HITS-CLIP	23824327
MIRT645903	hsa-miR-4273	HITS-CLIP	23824327
MIRT645901	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT645900	hsa-miR-4677-5p	HITS-CLIP	23824327
MIRT645899	hsa-miR-3658	HITS-CLIP	23824327
MIRT645898	hsa-miR-6739-3p	HITS-CLIP	23824327
MIRT619209	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT619208	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT619207	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT619206	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT619205	hsa-miR-1976	HITS-CLIP	23824327
MIRT619204	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT619203	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT619202	hsa-miR-1258	HITS-CLIP	23824327
MIRT544263	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT544262	hsa-miR-5588-3p	PAR-CLIP	21572407
MIRT544261	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT178982	hsa-miR-4310	PAR-CLIP	21572407
MIRT178984	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT544260	hsa-miR-186-3p	PAR-CLIP	21572407
MIRT544259	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT544258	hsa-miR-107	PAR-CLIP	21572407
MIRT544257	hsa-miR-1254	PAR-CLIP	21572407
MIRT544256	hsa-miR-3116	PAR-CLIP	21572407
MIRT544255	hsa-miR-661	PAR-CLIP	21572407
MIRT544254	hsa-miR-6894-3p	PAR-CLIP	21572407
MIRT544252	hsa-miR-6514-3p	PAR-CLIP	21572407
MIRT544253	hsa-miR-4774-3p	PAR-CLIP	21572407
MIRT544251	hsa-miR-3152-5p	PAR-CLIP	21572407
MIRT544250	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT1117578	hsa-miR-103a	CLIP-seq
MIRT1117579	hsa-miR-1287	CLIP-seq
MIRT1117580	hsa-miR-1292	CLIP-seq
MIRT1117581	hsa-miR-15a	CLIP-seq
MIRT1117582	hsa-miR-15b	CLIP-seq
MIRT1117583	hsa-miR-16	CLIP-seq
MIRT1117584	hsa-miR-195	CLIP-seq
MIRT1117585	hsa-miR-2114	CLIP-seq
MIRT1117586	hsa-miR-3135b	CLIP-seq
MIRT1117587	hsa-miR-331-5p	CLIP-seq
MIRT1117588	hsa-miR-34c-3p	CLIP-seq
MIRT1117589	hsa-miR-365	CLIP-seq
MIRT1117590	hsa-miR-376c	CLIP-seq
MIRT1117591	hsa-miR-3941	CLIP-seq
MIRT1117592	hsa-miR-424	CLIP-seq
MIRT1117593	hsa-miR-4471	CLIP-seq
MIRT1117594	hsa-miR-4646-5p	CLIP-seq
MIRT1117595	hsa-miR-466	CLIP-seq
MIRT1117596	hsa-miR-4672	CLIP-seq
MIRT1117597	hsa-miR-4704-3p	CLIP-seq
MIRT1117598	hsa-miR-4731-3p	CLIP-seq
MIRT1117599	hsa-miR-4801	CLIP-seq
MIRT1117600	hsa-miR-495	CLIP-seq
MIRT1117601	hsa-miR-497	CLIP-seq
MIRT1117602	hsa-miR-499-3p	CLIP-seq
MIRT1117603	hsa-miR-499a-3p	CLIP-seq
MIRT1117604	hsa-miR-548ac	CLIP-seq
MIRT1117605	hsa-miR-548d-3p	CLIP-seq
MIRT1117606	hsa-miR-548z	CLIP-seq
MIRT1117579	hsa-miR-1287	CLIP-seq
MIRT1117586	hsa-miR-3135b	CLIP-seq
MIRT1117587	hsa-miR-331-5p	CLIP-seq
MIRT1117588	hsa-miR-34c-3p	CLIP-seq
MIRT1117589	hsa-miR-365	CLIP-seq
MIRT2033245	hsa-miR-4272	CLIP-seq
MIRT1117602	hsa-miR-499-3p	CLIP-seq
MIRT1117603	hsa-miR-499a-3p	CLIP-seq
MIRT2033246	hsa-miR-539	CLIP-seq
MIRT2263546	hsa-miR-1228	CLIP-seq
MIRT2263547	hsa-miR-1276	CLIP-seq
MIRT2263548	hsa-miR-1279	CLIP-seq
MIRT2263549	hsa-miR-155	CLIP-seq
MIRT2263550	hsa-miR-216a	CLIP-seq
MIRT2263551	hsa-miR-300	CLIP-seq
MIRT2263552	hsa-miR-3148	CLIP-seq
MIRT2263553	hsa-miR-3160-3p	CLIP-seq
MIRT2263554	hsa-miR-329	CLIP-seq
MIRT2263555	hsa-miR-362-3p	CLIP-seq
MIRT1117590	hsa-miR-376c	CLIP-seq
MIRT2263556	hsa-miR-381	CLIP-seq
MIRT1117591	hsa-miR-3941	CLIP-seq
MIRT2263557	hsa-miR-3942-3p	CLIP-seq
MIRT2263558	hsa-miR-4264	CLIP-seq
MIRT2033245	hsa-miR-4272	CLIP-seq
MIRT2263559	hsa-miR-4311	CLIP-seq
MIRT2263560	hsa-miR-4422	CLIP-seq
MIRT2263561	hsa-miR-4477a	CLIP-seq
MIRT2263562	hsa-miR-4633-3p	CLIP-seq
MIRT1117595	hsa-miR-466	CLIP-seq
MIRT2263563	hsa-miR-4666-3p	CLIP-seq
MIRT1117596	hsa-miR-4672	CLIP-seq
MIRT2263564	hsa-miR-4728-3p	CLIP-seq
MIRT1117598	hsa-miR-4731-3p	CLIP-seq
MIRT2263565	hsa-miR-4797-3p	CLIP-seq
MIRT1117599	hsa-miR-4801	CLIP-seq
MIRT2263566	hsa-miR-577	CLIP-seq
MIRT2263567	hsa-miR-583	CLIP-seq
MIRT2263568	hsa-miR-875-3p	CLIP-seq
MIRT2562857	hsa-miR-1270	CLIP-seq
MIRT1117579	hsa-miR-1287	CLIP-seq
MIRT1117586	hsa-miR-3135b	CLIP-seq
MIRT1117587	hsa-miR-331-5p	CLIP-seq
MIRT1117589	hsa-miR-365	CLIP-seq
MIRT2033245	hsa-miR-4272	CLIP-seq
MIRT2562858	hsa-miR-432	CLIP-seq
MIRT2562859	hsa-miR-4434	CLIP-seq
MIRT2562860	hsa-miR-4516	CLIP-seq
MIRT2562861	hsa-miR-4531	CLIP-seq
MIRT1117600	hsa-miR-495	CLIP-seq
MIRT1117604	hsa-miR-548ac	CLIP-seq
MIRT1117605	hsa-miR-548d-3p	CLIP-seq
MIRT1117606	hsa-miR-548z	CLIP-seq
MIRT2562862	hsa-miR-620	CLIP-seq
MIRT2562863	hsa-miR-890	CLIP-seq
MIRT2562857	hsa-miR-1270	CLIP-seq
MIRT1117579	hsa-miR-1287	CLIP-seq
MIRT2263549	hsa-miR-155	CLIP-seq
MIRT1117586	hsa-miR-3135b	CLIP-seq
MIRT1117587	hsa-miR-331-5p	CLIP-seq
MIRT1117589	hsa-miR-365	CLIP-seq
MIRT2033245	hsa-miR-4272	CLIP-seq
MIRT2562858	hsa-miR-432	CLIP-seq
MIRT2562859	hsa-miR-4434	CLIP-seq
MIRT2562860	hsa-miR-4516	CLIP-seq
MIRT2562861	hsa-miR-4531	CLIP-seq
MIRT2263564	hsa-miR-4728-3p	CLIP-seq
MIRT1117600	hsa-miR-495	CLIP-seq
MIRT1117604	hsa-miR-548ac	CLIP-seq
MIRT1117605	hsa-miR-548d-3p	CLIP-seq
MIRT1117606	hsa-miR-548z	CLIP-seq
MIRT2562862	hsa-miR-620	CLIP-seq
MIRT2562863	hsa-miR-890	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0001740	Component	Barr body	IDA	23542155
GO:0001740	Component	Barr body	IEA
GO:0005515	Function	Protein binding	IPI	15383276, 20562864, 21888893, 21900206, 23542155, 24981860, 26496610, 27705803, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IMP	23542155
GO:0016363	Component	Nuclear matrix	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0042974	Function	Nuclear retinoic acid receptor binding	IEA

MIM	HGNC	e!Ensembl
615354	30299	ENSG00000121931

Q5T3J3

Protein name

Ligand-dependent nuclear receptor-interacting factor 1 (HP1-binding protein enriched in inactive X chromosome protein 1) (HBiX1) (Receptor-interacting factor 1)

Protein function

Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), pos

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15741	LRIF1	24 → 768	Ligand-dependent nuclear receptor-interacting factor 1	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with the highest expression levels in heart, liver and placenta. {ECO:0000269|PubMed:17455211}.

Sequence

MSNNLRRVFLKPAEENSGNASRCVSGCMYQVVQTIGSDGKNLLQLLPIPKSSGNLIPLVQ
SSVMSDALKGNTGKPVQVTFQTQISSSSTSASVQLPIFQPASSSNYFLTRTVDTSEKGRV
TSVGTGNFSSSVSKVQSHGVKIDGLTMQTFAVPPSTQKDSSFIVVNTQSLPVTVKSPVLP
SGHHLQIPAHAEVKSVPASSLPPSVQQKILATATTSTSGMVEASQMPTVIYVSPVNTVKN
VVTKNFQNIYPKPVTEIAKPVILNTTQIPKNVATETQLKGGQHSQAAPVKWIFQDNLQPF
TPSLVPVKSSNNVASKILKTFVDRKNLGDNTINMPPLSTIDPSGTRSKNMPIKDNALVMF
NGKVYLLAKKGTDVLPSQIDQQNSVSPDTPVRKDTLQTVSSSPVTEISREVVNIVLAKSK
SSQMETKSLSNTQLASMANLRAEKNKVEKPSPSTTNPHMNQSSNYLKQSKTLFTNPIFPV
GFSTGHNAPRKVTAVIYARKGSVLQSIEKISSSVDATTVTSQQCVFRDQEPKIHNEMAST
SDKGAQGRNDKKDSQGRSNKALHLKSDAEFKKIFGLTKDLRVCLTRIPDHLTSGEGFDSF
SSLVKSGTYKETEFMVKEGERKQQNFDKKRKAKTNKKMDHIKKRKTENAYNAIINGEANV
TGSQLLSSILPTSDVSQHNILTSHSKTRQEKRTEMEYYTHEKQEKGTLNSNAAYEQSHFF
NKNYTEDIFPVTPPELEETIRDEKIRRLKQVLREKEAALEEMRKKMHQK

Sequence length

769

Interactions

View interactions

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
Facioscapulohumeral muscular dystrophy 3, digenic	Pathogenic	rs2101110148	RCV001568343	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

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.
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19483192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	23486525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	28544931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18084325, 19483192, 38244928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	19483192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35769514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34916377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29719287, 30075819		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29291010, 30237512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29291010, 30237512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	36516748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21388066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29719287, 30075819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	19562576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30075819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21388066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21388066, 29291010, 29719287, 30237512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29291010, 30237512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	32467133, 37380887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	CLINVAR_DG	12207938, 15336686, 16917880, 24056153, 25205138, 25356970, 26019235, 26809617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nemaline Myopathy 2	Nemaline myopathy	CLINVAR_DG	12207938, 19805734, 21520333, 24056153, 24725366, 25205138, 25356970, 26197980, 26403434, 26809612, 26809617, 27105866, 27357428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30237512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30237512, 30443189, 30472259		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30075819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	39610070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21388066		★★★★★ ★☆☆☆☆ Found in Text Mining only

LRIF1 (ligand dependent nuclear receptor interacting factor 1)