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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84295
Gene name Gene Name - the full gene name approved by the HGNC.	PHD finger protein 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PHF6
Synonyms (NCBI Gene) Gene synonyms aliases	BFLS, BORJ, CENP-31
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BFLS
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq26.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894917	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894918	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894919	A>G	Pathogenic	Coding sequence variant, missense variant
rs112199174	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs132630297	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs132630298	G>T	Pathogenic	Coding sequence variant, missense variant
rs132630299	G>A	Pathogenic	Coding sequence variant, missense variant
rs132630300	T>C	Pathogenic	Initiator codon variant, missense variant
rs132630301	A>T	Pathogenic	Coding sequence variant, stop gained
rs188961105	A>G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs200423380	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs398124428	G>T	Pathogenic	Missense variant, initiator codon variant
rs587777489	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs758791658	->A	Pathogenic	Coding sequence variant, frameshift variant
rs771399346	A>C,G	Pathogenic	Intron variant
rs797044908	TG>AA	Pathogenic	Stop gained, inframe indel, genic downstream transcript variant, coding sequence variant
rs864309532	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064795103	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1114167289	C>A	Pathogenic	Coding sequence variant, stop gained
rs1556013203	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1556018932	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556019105	ACA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1556019107	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556020616	GAGAGA>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1569334260	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1569343210	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1602717803	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020833	hsa-miR-155-5p	Proteomics	18668040
MIRT022787	hsa-miR-124-3p	Proteomics	18668037
MIRT024322	hsa-miR-215-5p	Microarray	19074876
MIRT026628	hsa-miR-192-5p	Microarray	19074876
MIRT052389	hsa-let-7a-5p	CLASH	23622248
MIRT244898	hsa-miR-4311	PAR-CLIP	22012620
MIRT535295	hsa-miR-5197-5p	PAR-CLIP	22012620
MIRT244897	hsa-miR-548p	PAR-CLIP	22012620
MIRT535294	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT244899	hsa-miR-4477a	PAR-CLIP	22012620
MIRT108814	hsa-miR-410-3p	PAR-CLIP	22100165
MIRT326405	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT175650	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175644	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT175650	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175643	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT175658	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT175645	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT175666	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT175644	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT244898	hsa-miR-4311	PAR-CLIP	22012620
MIRT535295	hsa-miR-5197-5p	PAR-CLIP	22012620
MIRT244897	hsa-miR-548p	PAR-CLIP	22012620
MIRT535294	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT244899	hsa-miR-4477a	PAR-CLIP	22012620
MIRT108814	hsa-miR-410-3p	PAR-CLIP	22100165
MIRT326405	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT1231165	hsa-miR-101	CLIP-seq
MIRT1231166	hsa-miR-1207-3p	CLIP-seq
MIRT1231167	hsa-miR-124	CLIP-seq
MIRT1231168	hsa-miR-128	CLIP-seq
MIRT1231169	hsa-miR-1290	CLIP-seq
MIRT1231170	hsa-miR-129-5p	CLIP-seq
MIRT1231171	hsa-miR-139-5p	CLIP-seq
MIRT1231172	hsa-miR-144	CLIP-seq
MIRT1231173	hsa-miR-186	CLIP-seq
MIRT1231174	hsa-miR-199a-5p	CLIP-seq
MIRT1231175	hsa-miR-199b-5p	CLIP-seq
MIRT1231176	hsa-miR-203	CLIP-seq
MIRT1231177	hsa-miR-2116	CLIP-seq
MIRT1231178	hsa-miR-218	CLIP-seq
MIRT1231179	hsa-miR-224	CLIP-seq
MIRT1231180	hsa-miR-298	CLIP-seq
MIRT1231181	hsa-miR-30a	CLIP-seq
MIRT1231182	hsa-miR-30b	CLIP-seq
MIRT1231183	hsa-miR-30c	CLIP-seq
MIRT1231184	hsa-miR-30d	CLIP-seq
MIRT1231185	hsa-miR-30e	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT1231187	hsa-miR-3124-3p	CLIP-seq
MIRT1231188	hsa-miR-3133	CLIP-seq
MIRT1231189	hsa-miR-3155	CLIP-seq
MIRT1231190	hsa-miR-3155b	CLIP-seq
MIRT1231191	hsa-miR-3158-5p	CLIP-seq
MIRT1231192	hsa-miR-3160-5p	CLIP-seq
MIRT1231193	hsa-miR-3171	CLIP-seq
MIRT1231194	hsa-miR-320a	CLIP-seq
MIRT1231195	hsa-miR-320b	CLIP-seq
MIRT1231196	hsa-miR-320c	CLIP-seq
MIRT1231197	hsa-miR-320d	CLIP-seq
MIRT1231198	hsa-miR-320e	CLIP-seq
MIRT1231199	hsa-miR-337-5p	CLIP-seq
MIRT1231200	hsa-miR-34c-3p	CLIP-seq
MIRT1231201	hsa-miR-3646	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT1231203	hsa-miR-3714	CLIP-seq
MIRT1231204	hsa-miR-3910	CLIP-seq
MIRT1231205	hsa-miR-3914	CLIP-seq
MIRT1231206	hsa-miR-3977	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT1231208	hsa-miR-4263	CLIP-seq
MIRT1231209	hsa-miR-4282	CLIP-seq
MIRT1231210	hsa-miR-4302	CLIP-seq
MIRT1231211	hsa-miR-4305	CLIP-seq
MIRT1231212	hsa-miR-4429	CLIP-seq
MIRT1231213	hsa-miR-4453	CLIP-seq
MIRT1231214	hsa-miR-4477b	CLIP-seq
MIRT1231215	hsa-miR-4485	CLIP-seq
MIRT1231216	hsa-miR-4490	CLIP-seq
MIRT1231217	hsa-miR-4495	CLIP-seq
MIRT1231218	hsa-miR-4538	CLIP-seq
MIRT1231219	hsa-miR-4645-3p	CLIP-seq
MIRT1231220	hsa-miR-4659a-5p	CLIP-seq
MIRT1231221	hsa-miR-4659b-5p	CLIP-seq
MIRT1231222	hsa-miR-4663	CLIP-seq
MIRT1231223	hsa-miR-4668-3p	CLIP-seq
MIRT1231224	hsa-miR-4698	CLIP-seq
MIRT1231225	hsa-miR-4774-5p	CLIP-seq
MIRT1231226	hsa-miR-4776-3p	CLIP-seq
MIRT1231227	hsa-miR-4799-5p	CLIP-seq
MIRT1231228	hsa-miR-484	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1231230	hsa-miR-500a	CLIP-seq
MIRT1231231	hsa-miR-501-5p	CLIP-seq
MIRT1231232	hsa-miR-506	CLIP-seq
MIRT1231233	hsa-miR-513a-3p	CLIP-seq
MIRT1231234	hsa-miR-548a-3p	CLIP-seq
MIRT1231235	hsa-miR-548e	CLIP-seq
MIRT1231236	hsa-miR-548f	CLIP-seq
MIRT1231237	hsa-miR-576-5p	CLIP-seq
MIRT1231238	hsa-miR-582-5p	CLIP-seq
MIRT1231239	hsa-miR-586	CLIP-seq
MIRT1231240	hsa-miR-636	CLIP-seq
MIRT1231241	hsa-miR-659	CLIP-seq
MIRT1231242	hsa-miR-873	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT1920768	hsa-miR-3660	CLIP-seq
MIRT1920769	hsa-miR-4526	CLIP-seq
MIRT1920770	hsa-miR-4760-3p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT1920768	hsa-miR-3660	CLIP-seq
MIRT1920769	hsa-miR-4526	CLIP-seq
MIRT1920770	hsa-miR-4760-3p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT1920768	hsa-miR-3660	CLIP-seq
MIRT1920769	hsa-miR-4526	CLIP-seq
MIRT1920770	hsa-miR-4760-3p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT2067847	hsa-miR-1252	CLIP-seq
MIRT2067848	hsa-miR-1267	CLIP-seq
MIRT1231168	hsa-miR-128	CLIP-seq
MIRT2067849	hsa-miR-1284	CLIP-seq
MIRT1231169	hsa-miR-1290	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2067851	hsa-miR-136	CLIP-seq
MIRT1231173	hsa-miR-186	CLIP-seq
MIRT2067852	hsa-miR-21	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2067855	hsa-miR-3117-5p	CLIP-seq
MIRT1231188	hsa-miR-3133	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2067857	hsa-miR-3147	CLIP-seq
MIRT2067858	hsa-miR-329	CLIP-seq
MIRT2067859	hsa-miR-3617	CLIP-seq
MIRT2067860	hsa-miR-362-3p	CLIP-seq
MIRT1231201	hsa-miR-3646	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2067861	hsa-miR-3662	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT2067866	hsa-miR-3941	CLIP-seq
MIRT2067867	hsa-miR-4259	CLIP-seq
MIRT2067868	hsa-miR-4318	CLIP-seq
MIRT2067869	hsa-miR-432	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231214	hsa-miR-4477b	CLIP-seq
MIRT1231217	hsa-miR-4495	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2067872	hsa-miR-4693-5p	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT2067874	hsa-miR-4789-5p	CLIP-seq
MIRT2067875	hsa-miR-496	CLIP-seq
MIRT2067876	hsa-miR-512-5p	CLIP-seq
MIRT2067877	hsa-miR-518a-5p	CLIP-seq
MIRT2067878	hsa-miR-527	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT2067880	hsa-miR-570	CLIP-seq
MIRT2067881	hsa-miR-571	CLIP-seq
MIRT2067882	hsa-miR-590-5p	CLIP-seq
MIRT2067883	hsa-miR-603	CLIP-seq
MIRT2067884	hsa-miR-641	CLIP-seq
MIRT2067885	hsa-miR-7	CLIP-seq
MIRT2067886	hsa-miR-885-5p	CLIP-seq
MIRT2067887	hsa-miR-892a	CLIP-seq
MIRT2067888	hsa-miR-933	CLIP-seq
MIRT2295290	hsa-miR-1202	CLIP-seq
MIRT2295291	hsa-miR-1228	CLIP-seq
MIRT2295292	hsa-miR-1264	CLIP-seq
MIRT1231168	hsa-miR-128	CLIP-seq
MIRT1231170	hsa-miR-129-5p	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2295293	hsa-miR-140-3p	CLIP-seq
MIRT2295294	hsa-miR-183	CLIP-seq
MIRT2295295	hsa-miR-1910	CLIP-seq
MIRT2295296	hsa-miR-196a	CLIP-seq
MIRT2295297	hsa-miR-196b	CLIP-seq
MIRT2295298	hsa-miR-198	CLIP-seq
MIRT1231174	hsa-miR-199a-5p	CLIP-seq
MIRT1231175	hsa-miR-199b-5p	CLIP-seq
MIRT1231176	hsa-miR-203	CLIP-seq
MIRT2067852	hsa-miR-21	CLIP-seq
MIRT1231177	hsa-miR-2116	CLIP-seq
MIRT1231179	hsa-miR-224	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT1231181	hsa-miR-30a	CLIP-seq
MIRT1231182	hsa-miR-30b	CLIP-seq
MIRT1231183	hsa-miR-30c	CLIP-seq
MIRT1231184	hsa-miR-30d	CLIP-seq
MIRT1231185	hsa-miR-30e	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT2295299	hsa-miR-3122	CLIP-seq
MIRT2295300	hsa-miR-3125	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2295301	hsa-miR-3149	CLIP-seq
MIRT2295302	hsa-miR-3157-5p	CLIP-seq
MIRT1231193	hsa-miR-3171	CLIP-seq
MIRT1231194	hsa-miR-320a	CLIP-seq
MIRT1231195	hsa-miR-320b	CLIP-seq
MIRT1231196	hsa-miR-320c	CLIP-seq
MIRT1231197	hsa-miR-320d	CLIP-seq
MIRT1231198	hsa-miR-320e	CLIP-seq
MIRT1231200	hsa-miR-34c-3p	CLIP-seq
MIRT1231201	hsa-miR-3646	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2067861	hsa-miR-3662	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2295303	hsa-miR-3689a-3p	CLIP-seq
MIRT2295304	hsa-miR-3689c	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2295305	hsa-miR-3913-5p	CLIP-seq
MIRT2295306	hsa-miR-3916	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT2295307	hsa-miR-3928	CLIP-seq
MIRT2295308	hsa-miR-3972	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT1231210	hsa-miR-4302	CLIP-seq
MIRT1231211	hsa-miR-4305	CLIP-seq
MIRT2295309	hsa-miR-4325	CLIP-seq
MIRT1231212	hsa-miR-4429	CLIP-seq
MIRT2295310	hsa-miR-4434	CLIP-seq
MIRT2295311	hsa-miR-4445	CLIP-seq
MIRT1231213	hsa-miR-4453	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231217	hsa-miR-4495	CLIP-seq
MIRT2295312	hsa-miR-4516	CLIP-seq
MIRT1231218	hsa-miR-4538	CLIP-seq
MIRT2295313	hsa-miR-455-3p	CLIP-seq
MIRT2295314	hsa-miR-4662a-5p	CLIP-seq
MIRT1231223	hsa-miR-4668-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2295315	hsa-miR-4691-3p	CLIP-seq
MIRT2295316	hsa-miR-4705	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT1231226	hsa-miR-4776-3p	CLIP-seq
MIRT2295317	hsa-miR-4777-5p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT1231231	hsa-miR-501-5p	CLIP-seq
MIRT2295318	hsa-miR-502-5p	CLIP-seq
MIRT2295319	hsa-miR-539	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT2295320	hsa-miR-548k	CLIP-seq
MIRT2295321	hsa-miR-555	CLIP-seq
MIRT2067882	hsa-miR-590-5p	CLIP-seq
MIRT2295322	hsa-miR-607	CLIP-seq
MIRT1231242	hsa-miR-873	CLIP-seq
MIRT2295323	hsa-miR-922	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2456377	hsa-miR-1913	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2295301	hsa-miR-3149	CLIP-seq
MIRT2456378	hsa-miR-324-3p	CLIP-seq
MIRT2456379	hsa-miR-361-3p	CLIP-seq
MIRT2456380	hsa-miR-3688-3p	CLIP-seq
MIRT2456381	hsa-miR-3689d	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2456382	hsa-miR-3978	CLIP-seq
MIRT2456383	hsa-miR-4313	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT2456384	hsa-miR-4640-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2456385	hsa-miR-4802-3p	CLIP-seq
MIRT2456386	hsa-miR-568	CLIP-seq
MIRT2456380	hsa-miR-3688-3p	CLIP-seq
MIRT2456381	hsa-miR-3689d	CLIP-seq
MIRT2456382	hsa-miR-3978	CLIP-seq
MIRT2456385	hsa-miR-4802-3p	CLIP-seq
MIRT1231167	hsa-miR-124	CLIP-seq
MIRT2592894	hsa-miR-1246	CLIP-seq
MIRT2067849	hsa-miR-1284	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2592895	hsa-miR-1323	CLIP-seq
MIRT1231171	hsa-miR-139-5p	CLIP-seq
MIRT2592896	hsa-miR-140-5p	CLIP-seq
MIRT2592897	hsa-miR-142-5p	CLIP-seq
MIRT2295295	hsa-miR-1910	CLIP-seq
MIRT2592898	hsa-miR-193a-3p	CLIP-seq
MIRT2592899	hsa-miR-193b	CLIP-seq
MIRT2295298	hsa-miR-198	CLIP-seq
MIRT2592900	hsa-miR-200b	CLIP-seq
MIRT2592901	hsa-miR-200c	CLIP-seq
MIRT2592902	hsa-miR-2115	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2592903	hsa-miR-302f	CLIP-seq
MIRT2067855	hsa-miR-3117-5p	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT1231187	hsa-miR-3124-3p	CLIP-seq
MIRT2592904	hsa-miR-3136-5p	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2592905	hsa-miR-3144-3p	CLIP-seq
MIRT1231192	hsa-miR-3160-5p	CLIP-seq
MIRT2592906	hsa-miR-3187-3p	CLIP-seq
MIRT2592907	hsa-miR-3200-3p	CLIP-seq
MIRT2592908	hsa-miR-3200-5p	CLIP-seq
MIRT2592909	hsa-miR-33a	CLIP-seq
MIRT2592910	hsa-miR-33b	CLIP-seq
MIRT2592911	hsa-miR-3545-3p	CLIP-seq
MIRT2592912	hsa-miR-3545-5p	CLIP-seq
MIRT2592913	hsa-miR-3591-3p	CLIP-seq
MIRT2592914	hsa-miR-3622b-5p	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2592915	hsa-miR-3675-3p	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2592916	hsa-miR-3685	CLIP-seq
MIRT1231203	hsa-miR-3714	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2592917	hsa-miR-384	CLIP-seq
MIRT1231204	hsa-miR-3910	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT1231206	hsa-miR-3977	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT2592918	hsa-miR-4255	CLIP-seq
MIRT1231208	hsa-miR-4263	CLIP-seq
MIRT1231209	hsa-miR-4282	CLIP-seq
MIRT2592919	hsa-miR-429	CLIP-seq
MIRT2592920	hsa-miR-4303	CLIP-seq
MIRT2592921	hsa-miR-4436b-3p	CLIP-seq
MIRT2592922	hsa-miR-4439	CLIP-seq
MIRT2592923	hsa-miR-4460	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231216	hsa-miR-4490	CLIP-seq
MIRT2592924	hsa-miR-452	CLIP-seq
MIRT2592925	hsa-miR-4529-5p	CLIP-seq
MIRT2295313	hsa-miR-455-3p	CLIP-seq
MIRT2456384	hsa-miR-4640-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2592926	hsa-miR-4676-3p	CLIP-seq
MIRT2592927	hsa-miR-4680-5p	CLIP-seq
MIRT2592928	hsa-miR-4707-5p	CLIP-seq
MIRT2592929	hsa-miR-4715-3p	CLIP-seq
MIRT2592930	hsa-miR-4719	CLIP-seq
MIRT2592931	hsa-miR-4738-3p	CLIP-seq
MIRT2592932	hsa-miR-4761-3p	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT2592933	hsa-miR-4766-5p	CLIP-seq
MIRT2592934	hsa-miR-4773	CLIP-seq
MIRT1231225	hsa-miR-4774-5p	CLIP-seq
MIRT2067874	hsa-miR-4789-5p	CLIP-seq
MIRT1231227	hsa-miR-4799-5p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT2067875	hsa-miR-496	CLIP-seq
MIRT1231232	hsa-miR-506	CLIP-seq
MIRT2592935	hsa-miR-516a-3p	CLIP-seq
MIRT2592936	hsa-miR-526b	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT1231234	hsa-miR-548a-3p	CLIP-seq
MIRT2592937	hsa-miR-548a-5p	CLIP-seq
MIRT2592938	hsa-miR-548ab	CLIP-seq
MIRT2592939	hsa-miR-548ak	CLIP-seq
MIRT2592940	hsa-miR-548b-5p	CLIP-seq
MIRT2592941	hsa-miR-548c-3p	CLIP-seq
MIRT2592942	hsa-miR-548c-5p	CLIP-seq
MIRT2592943	hsa-miR-548d-5p	CLIP-seq
MIRT1231235	hsa-miR-548e	CLIP-seq
MIRT1231236	hsa-miR-548f	CLIP-seq
MIRT2592944	hsa-miR-548g	CLIP-seq
MIRT2592945	hsa-miR-548h	CLIP-seq
MIRT2592946	hsa-miR-548i	CLIP-seq
MIRT2592947	hsa-miR-548j	CLIP-seq
MIRT2592948	hsa-miR-548n	CLIP-seq
MIRT2592949	hsa-miR-548o	CLIP-seq
MIRT2592950	hsa-miR-548w	CLIP-seq
MIRT2592951	hsa-miR-548y	CLIP-seq
MIRT2592952	hsa-miR-559	CLIP-seq
MIRT2592953	hsa-miR-561	CLIP-seq
MIRT2067880	hsa-miR-570	CLIP-seq
MIRT1231237	hsa-miR-576-5p	CLIP-seq
MIRT1231239	hsa-miR-586	CLIP-seq
MIRT2592954	hsa-miR-601	CLIP-seq
MIRT2592955	hsa-miR-633	CLIP-seq
MIRT2592956	hsa-miR-654-3p	CLIP-seq
MIRT2592957	hsa-miR-875-5p	CLIP-seq
MIRT2592958	hsa-miR-889	CLIP-seq
MIRT2295323	hsa-miR-922	CLIP-seq
MIRT2592959	hsa-miR-943	CLIP-seq
MIRT2592960	hsa-miR-944	CLIP-seq
MIRT1231165	hsa-miR-101	CLIP-seq
MIRT1231167	hsa-miR-124	CLIP-seq
MIRT2592894	hsa-miR-1246	CLIP-seq
MIRT2067849	hsa-miR-1284	CLIP-seq
MIRT2067850	hsa-miR-1297	CLIP-seq
MIRT2592895	hsa-miR-1323	CLIP-seq
MIRT1231171	hsa-miR-139-5p	CLIP-seq
MIRT1231172	hsa-miR-144	CLIP-seq
MIRT2592898	hsa-miR-193a-3p	CLIP-seq
MIRT2592899	hsa-miR-193b	CLIP-seq
MIRT1231176	hsa-miR-203	CLIP-seq
MIRT2592902	hsa-miR-2115	CLIP-seq
MIRT1920767	hsa-miR-2277-3p	CLIP-seq
MIRT2067853	hsa-miR-26a	CLIP-seq
MIRT2067854	hsa-miR-26b	CLIP-seq
MIRT2592903	hsa-miR-302f	CLIP-seq
MIRT2067855	hsa-miR-3117-5p	CLIP-seq
MIRT1231186	hsa-miR-3121-5p	CLIP-seq
MIRT1231187	hsa-miR-3124-3p	CLIP-seq
MIRT2592904	hsa-miR-3136-5p	CLIP-seq
MIRT2067856	hsa-miR-3143	CLIP-seq
MIRT2592905	hsa-miR-3144-3p	CLIP-seq
MIRT1231192	hsa-miR-3160-5p	CLIP-seq
MIRT2687844	hsa-miR-3163	CLIP-seq
MIRT2592906	hsa-miR-3187-3p	CLIP-seq
MIRT2592907	hsa-miR-3200-3p	CLIP-seq
MIRT2592908	hsa-miR-3200-5p	CLIP-seq
MIRT2592909	hsa-miR-33a	CLIP-seq
MIRT2592910	hsa-miR-33b	CLIP-seq
MIRT2592911	hsa-miR-3545-3p	CLIP-seq
MIRT2592914	hsa-miR-3622b-5p	CLIP-seq
MIRT1231202	hsa-miR-3647-3p	CLIP-seq
MIRT2067861	hsa-miR-3662	CLIP-seq
MIRT2592915	hsa-miR-3675-3p	CLIP-seq
MIRT2067862	hsa-miR-3682-5p	CLIP-seq
MIRT2592916	hsa-miR-3685	CLIP-seq
MIRT1231203	hsa-miR-3714	CLIP-seq
MIRT2067863	hsa-miR-375	CLIP-seq
MIRT2067864	hsa-miR-377	CLIP-seq
MIRT2592917	hsa-miR-384	CLIP-seq
MIRT1231204	hsa-miR-3910	CLIP-seq
MIRT2067865	hsa-miR-3920	CLIP-seq
MIRT1231206	hsa-miR-3977	CLIP-seq
MIRT1231207	hsa-miR-410	CLIP-seq
MIRT2592918	hsa-miR-4255	CLIP-seq
MIRT1231209	hsa-miR-4282	CLIP-seq
MIRT2592920	hsa-miR-4303	CLIP-seq
MIRT2592922	hsa-miR-4439	CLIP-seq
MIRT2067870	hsa-miR-4465	CLIP-seq
MIRT1231216	hsa-miR-4490	CLIP-seq
MIRT2592925	hsa-miR-4529-5p	CLIP-seq
MIRT2687845	hsa-miR-4635	CLIP-seq
MIRT2456384	hsa-miR-4640-3p	CLIP-seq
MIRT2067871	hsa-miR-4672	CLIP-seq
MIRT2592927	hsa-miR-4680-5p	CLIP-seq
MIRT2592928	hsa-miR-4707-5p	CLIP-seq
MIRT2592929	hsa-miR-4715-3p	CLIP-seq
MIRT2592931	hsa-miR-4738-3p	CLIP-seq
MIRT2067873	hsa-miR-4762-3p	CLIP-seq
MIRT2592933	hsa-miR-4766-5p	CLIP-seq
MIRT2592934	hsa-miR-4773	CLIP-seq
MIRT1231225	hsa-miR-4774-5p	CLIP-seq
MIRT2067874	hsa-miR-4789-5p	CLIP-seq
MIRT1231227	hsa-miR-4799-5p	CLIP-seq
MIRT1231229	hsa-miR-495	CLIP-seq
MIRT2067875	hsa-miR-496	CLIP-seq
MIRT1231232	hsa-miR-506	CLIP-seq
MIRT2592935	hsa-miR-516a-3p	CLIP-seq
MIRT2592936	hsa-miR-526b	CLIP-seq
MIRT2067879	hsa-miR-543	CLIP-seq
MIRT1231234	hsa-miR-548a-3p	CLIP-seq
MIRT1231235	hsa-miR-548e	CLIP-seq
MIRT1231236	hsa-miR-548f	CLIP-seq
MIRT2592944	hsa-miR-548g	CLIP-seq
MIRT2592949	hsa-miR-548o	CLIP-seq
MIRT1231238	hsa-miR-582-5p	CLIP-seq
MIRT1231239	hsa-miR-586	CLIP-seq
MIRT2592954	hsa-miR-601	CLIP-seq
MIRT2592955	hsa-miR-633	CLIP-seq
MIRT2592956	hsa-miR-654-3p	CLIP-seq
MIRT2592957	hsa-miR-875-5p	CLIP-seq
MIRT2592958	hsa-miR-889	CLIP-seq
MIRT2295323	hsa-miR-922	CLIP-seq
MIRT2592959	hsa-miR-943	CLIP-seq
MIRT2592960	hsa-miR-944	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	24554700
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	22720776
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA	22720776
GO:0005730	Component	Nucleolus	IDA	22720776
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0015631	Function	Tubulin binding	IPI	22720776
GO:0019899	Function	Enzyme binding	IPI	22720776
GO:0042393	Function	Histone binding	IBA	21873635
GO:0042393	Function	Histone binding	IPI	22720776
GO:0042826	Function	Histone deacetylase binding	IBA	21873635
GO:0042826	Function	Histone deacetylase binding	IPI	22720776
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	22720776
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	22720776
GO:0097110	Function	Scaffold protein binding	IPI	22720776

MIM	HGNC	e!Ensembl
300414	18145	ENSG00000156531

Protein

UniProt ID

Q8IWS0

Protein name

PHD finger protein 6 (PHD-like zinc finger protein)

Protein function

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.

PDB

4NN2 , 4R7A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13771	zf-HC5HC2H	42 → 132		Domain
PF13771	zf-HC5HC2H	239 → 330		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12415272}.

Sequence

MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNE
SLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPS
QGIYMVYCRKHKKTAHNSEADLEESFNEHELEPSSPKSKKKSRKGRPRKTNFKGLSEDTR
STSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEENEARGKLHIFNAKKAAAHY
KCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCTLCSQPGATIGCEIKACVKT
YHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDEERESKSRGKVEIDQQQLTQQ
QLNGN

Sequence length

365

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Borjeson-forssman-lehmann syndrome	Borjeson-Forssman-Lehmann syndrome	rs132630297, rs132630298, rs104894917, rs132630299, rs104894918, rs132630300, rs104894919, rs132630301, rs771399346, rs758791658, rs587777489, rs864309532, rs1114167289, rs1556018932, rs1556013203 View all (3 more)	23791194, 15994862, 27633282, 23906836, 15466013, 12415272, 15241480, 22720776, 23229552
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Coffin-siris syndrome	Coffin-Siris syndrome	rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977 View all (131 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Lymphoblastic leukemia	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699 View all (13 more)	20228800
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	13871358, 27633282, 24092917, 12415272, 14756673, 27094817
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Neuroticism	Neuroticism	GWAS
Cleft Lip With Or Without Cleft Palate	Cleft Lip With Or Without Cleft Palate	GWAS

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	34209408, 34375027, 34838590
Astigmatism	Associate	36999477
Ataxia Telangiectasia	Associate	27602765
Borjeson Forssman Lehmann syndrome	Associate	15994862, 20806366, 23229552, 25601084, 27165002, 30551478, 30630810, 31782600, 33149206, 35662002, 36999477, 37704779
Coffin Siris syndrome	Associate	23906836, 27165002, 36369738
Cognitive Dysfunction	Associate	33149206
Colorectal Neoplasms	Associate	28675510
Death	Associate	33779075
Developmental Disabilities	Associate	30630810
Endometrial Neoplasms	Associate	34859848
Endometrial Neoplasms	Stimulate	36756714
Facial Dysmorphism with Multiple Malformations	Associate	35662002
Fused Kidney	Associate	30630810
Glioblastoma	Associate	24919120
Hematologic Neoplasms	Associate	25737277
Inflammation	Stimulate	34209408
Intellectual Disability	Associate	28539120, 35662002
Leukemia	Associate	20228800, 25737277, 30551478, 35338774, 38429501
Leukemia Biphenotypic Acute	Associate	30530780
Leukemia Myeloid Acute	Associate	21880637, 22417203, 23229552, 25601084, 27050425, 27165002, 30737482, 31000771, 32732356, 37088137
Leukemia Myeloid Chronic Phase	Associate	32782381
Lymphoma B Cell	Associate	25737277
Lymphoma T Cell	Associate	20806366, 25601084, 36000950
Mental Retardation X Linked	Associate	23229552
Metatarsus Varus	Associate	35662002
Microphthalmia syndromic 7	Associate	35662002
Neoplasms	Associate	20228800, 24710217, 25737277, 30117174, 31782600, 34944094, 35503998, 35896598, 36756714, 37406166
Neoplasms	Inhibit	23229552, 29785014
Neurodegenerative Diseases	Associate	33571490
Neurofibroma	Associate	35797671
Neurofibromatoses	Associate	35797671
Nicolaides Baraitser syndrome	Associate	23906836
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23229552, 25601084, 30551478, 32164600
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	20228800, 20806366, 21880637, 22675565, 25595890, 27022003, 27165002, 27602765, 30171027, 30551478, 31270080, 32164600, 36176187, 36281717
Spinocerebellar Degenerations	Associate	28675510
Strabismus	Associate	36999477
Uterine Cervical Neoplasms	Associate	33537816

PHF6 (PHD finger protein 6)