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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3096
Gene name	HIVEP zinc finger 1
Gene symbol	HIVEP1
Synonyms (NCBI Gene)	CIRIPCRYBP1GAAPMBP-1PRDII-BF1Schnurri-1ZAS1ZNF40ZNF40A
Chromosome	6
Chromosome location	6p24.1
Summary	This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs776300630	G>A,C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant

246

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024164	hsa-miR-221-3p	Sequencing	20371350
MIRT027541	hsa-miR-98-5p	Microarray	19088304
MIRT028301	hsa-miR-32-5p	Sequencing	20371350
MIRT050384	hsa-miR-23a-3p	CLASH	23622248
MIRT053566	hsa-miR-363-3p	GFP reporter assayqRT-PCRWestern blot	23975832
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT167705	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT167703	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028301	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT167706	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT167709	hsa-miR-1206	PAR-CLIP	21572407
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	21572407
MIRT053566	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT167705	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT167703	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028301	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT167706	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT167709	hsa-miR-1206	PAR-CLIP	21572407
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	21572407
MIRT536879	hsa-miR-548e-5p	PAR-CLIP	22012620
MIRT217683	hsa-miR-595	PAR-CLIP	22012620
MIRT536878	hsa-miR-3163	PAR-CLIP	22012620
MIRT315729	hsa-miR-410-3p	PAR-CLIP	22012620
MIRT536877	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT536876	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT053566	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT167705	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT167703	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT028301	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT167706	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT167709	hsa-miR-1206	PAR-CLIP	23446348
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	23446348
MIRT053566	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT167705	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT167703	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT028301	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT167706	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT167709	hsa-miR-1206	PAR-CLIP	23446348
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	23446348
MIRT053566	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT167705	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT167703	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT028301	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT167706	hsa-miR-433-3p	PAR-CLIP	23592263
MIRT167709	hsa-miR-1206	PAR-CLIP	23592263
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	23592263
MIRT167704	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT167707	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028301	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT167705	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT167703	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028301	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT167706	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT167709	hsa-miR-1206	PAR-CLIP	20371350
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT053566	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT167705	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT167703	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028301	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT167706	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT167709	hsa-miR-1206	PAR-CLIP	21572407
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	21572407
MIRT053566	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT167705	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT167703	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028301	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT167706	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT167709	hsa-miR-1206	PAR-CLIP	21572407
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	21572407
MIRT536879	hsa-miR-548e-5p	PAR-CLIP	22012620
MIRT217683	hsa-miR-595	PAR-CLIP	22012620
MIRT536878	hsa-miR-3163	PAR-CLIP	22012620
MIRT315729	hsa-miR-410-3p	PAR-CLIP	22012620
MIRT536877	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT536876	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT053566	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT167705	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT167703	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT028301	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT167706	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT167709	hsa-miR-1206	PAR-CLIP	23446348
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	23446348
MIRT053566	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT167705	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT167703	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT028301	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT167706	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT167709	hsa-miR-1206	PAR-CLIP	23446348
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	23446348
MIRT053566	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT167707	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT167704	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT167705	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT167703	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT028301	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT167706	hsa-miR-433-3p	PAR-CLIP	23592263
MIRT167709	hsa-miR-1206	PAR-CLIP	23592263
MIRT167718	hsa-miR-7154-5p	PAR-CLIP	23592263
MIRT1047961	hsa-miR-103b	CLIP-seq
MIRT1047962	hsa-miR-1913	CLIP-seq
MIRT1047963	hsa-miR-218	CLIP-seq
MIRT1047964	hsa-miR-25	CLIP-seq
MIRT1047965	hsa-miR-3189-5p	CLIP-seq
MIRT1047966	hsa-miR-32	CLIP-seq
MIRT1047967	hsa-miR-324-3p	CLIP-seq
MIRT1047968	hsa-miR-363	CLIP-seq
MIRT1047969	hsa-miR-367	CLIP-seq
MIRT1047970	hsa-miR-433	CLIP-seq
MIRT1047971	hsa-miR-4477b	CLIP-seq
MIRT1047972	hsa-miR-4672	CLIP-seq
MIRT1047973	hsa-miR-4735-5p	CLIP-seq
MIRT1047974	hsa-miR-4758-3p	CLIP-seq
MIRT1047975	hsa-miR-4789-5p	CLIP-seq
MIRT1047976	hsa-miR-636	CLIP-seq
MIRT1047977	hsa-miR-92a	CLIP-seq
MIRT1047978	hsa-miR-92b	CLIP-seq
MIRT1047979	hsa-miR-944	CLIP-seq
MIRT1047964	hsa-miR-25	CLIP-seq
MIRT2010880	hsa-miR-3173-3p	CLIP-seq
MIRT1047966	hsa-miR-32	CLIP-seq
MIRT1047968	hsa-miR-363	CLIP-seq
MIRT1047969	hsa-miR-367	CLIP-seq
MIRT2010881	hsa-miR-369-3p	CLIP-seq
MIRT2010882	hsa-miR-374a	CLIP-seq
MIRT2010883	hsa-miR-374b	CLIP-seq
MIRT1047970	hsa-miR-433	CLIP-seq
MIRT2010884	hsa-miR-642b	CLIP-seq
MIRT1047977	hsa-miR-92a	CLIP-seq
MIRT1047978	hsa-miR-92b	CLIP-seq
MIRT1047979	hsa-miR-944	CLIP-seq
MIRT1047964	hsa-miR-25	CLIP-seq
MIRT1047966	hsa-miR-32	CLIP-seq
MIRT1047968	hsa-miR-363	CLIP-seq
MIRT1047969	hsa-miR-367	CLIP-seq
MIRT1047970	hsa-miR-433	CLIP-seq
MIRT2010884	hsa-miR-642b	CLIP-seq
MIRT1047977	hsa-miR-92a	CLIP-seq
MIRT1047978	hsa-miR-92b	CLIP-seq
MIRT1047979	hsa-miR-944	CLIP-seq
MIRT1047964	hsa-miR-25	CLIP-seq
MIRT1047966	hsa-miR-32	CLIP-seq
MIRT1047968	hsa-miR-363	CLIP-seq
MIRT1047969	hsa-miR-367	CLIP-seq
MIRT1047970	hsa-miR-433	CLIP-seq
MIRT1047977	hsa-miR-92a	CLIP-seq
MIRT1047978	hsa-miR-92b	CLIP-seq
MIRT1047979	hsa-miR-944	CLIP-seq
MIRT2546288	hsa-miR-1305	CLIP-seq
MIRT1047964	hsa-miR-25	CLIP-seq
MIRT1047966	hsa-miR-32	CLIP-seq
MIRT1047968	hsa-miR-363	CLIP-seq
MIRT1047969	hsa-miR-367	CLIP-seq
MIRT1047970	hsa-miR-433	CLIP-seq
MIRT2546289	hsa-miR-4517	CLIP-seq
MIRT2546290	hsa-miR-4666-3p	CLIP-seq
MIRT2546291	hsa-miR-548u	CLIP-seq
MIRT2546292	hsa-miR-607	CLIP-seq
MIRT2010884	hsa-miR-642b	CLIP-seq
MIRT2546293	hsa-miR-660	CLIP-seq
MIRT1047977	hsa-miR-92a	CLIP-seq
MIRT1047978	hsa-miR-92b	CLIP-seq
MIRT1047979	hsa-miR-944	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17008448
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 19732766, 21078624, 23414517
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19732766
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	2106471
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030509	Process	BMP signaling pathway	IDA	17008448
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17008448
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	2106471

MIM	HGNC	e!Ensembl
194540	4920	ENSG00000095951

P15822

Protein name

Zinc finger protein 40 (Cirhin interaction protein) (CIRIP) (Gate keeper of apoptosis-activating protein) (GAAP) (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex-binding protein 1) (MBP-1) (Posit

Protein function

This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a

PDB

1BBO , 3ZNF , 4ZNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	406 → 428	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	434 → 456	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	2088 → 2110	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	2116 → 2140	Zinc finger, C2H2 type	Domain

Sequence

MPRTKQIHPRNLRDKIEEAQKELNGAEVSKKEILQAGVKGTSESLKGVKRKKIVAENHLK
KIPKSPLRNPLQAKHKQNTEESSFAVLHSASESHKKQNYIPVKNGKQFTKQNGETPGIIA
EASKSEESVSPKKPLFLQQPSELRRWRSEGADPAKFSDLDEQCDSSSLSSKTRTDNSECI
SSHCGTTSPSYTNTAFDVLLKAMEPELSTLSQKGSPCAIKTEKLRPNKTARSPPKLKNSS
MDAPNQTSQELVAESQSSCTSYTVHMSAAQKNEQGAMQSASHLYHQHEHFVPKSNQHNQQ
LPGCSGFTGSLTNLQNQENAKLEQVYNIAVTSSVGLTSPSSRSQVTPQNQQMDSASPLSI
SPANSTQSPPMPIYNSTHVASVVNQSVEQMCNLLLKDQKPKKQGKYICEYCNRACAKPSV
LLKHIRSHTGERPYPCVTCGFSFKTKSNLYKHKKSHAHTIKLGLVLQPDAGGLFLSHESP
KALSIHSDVEDSGESEEEGATDERQHDLGAMELQPVHIIKRMSNAETLLKSSFTPSSPEN
VIGDFLLQDRSAESQAVTELPKVVVHHVTVSPLRTDSPKAMDPKPELSSAQKQKDLQVTN
VQPLSANMSQGGVSRLETNENSHQKGDMNPLEGKQDSHVGTVHAQLQRQQATDYSQEQQG
KLLSPRSLGSTDSGYFSRSESADQTVSPPTPFARRLPSTEQDSGRSNGPSAALVTTSTPS
ALPTGEKALLLPGQMRPPLATKTLEERISKLISDNEALVDDKQLDSVKPRRTSLSRRGSI
DSPKSYIFKDSFQFDLKPVGRRTSSSSDIPKSPFTPTEKSKQVFLLSVPSLDCLPITRSN
SMPTTGYSAVPANIIPPPHPLRGSQSFDDKIGTFYDDVFVSGPNAPVPQSGHPRTLVRQA
AIEDSSANESHVLGTGQSLDESHQGCHAAGEAMSVRSKALAQGPHIEKKKSHQGRGTMFE
CETCRNRYRKLENFENHKKFYCSELHGPKTKVAMREPEHSPVPGGLQPQILHYRVAGSSG
IWEQTPQIRKRRKMKSVGDDEELQQNESGTSPKSSEGLQFQNALGCNPSLPKHNVTIRSD
QQHKNIQLQNSHIHLVARGPEQTMDPKLSTIMEQQISSAAQDKIELQRHGTGISVIQHTN
SLSRPNSFDKPEPFERASPVSFQELNRTGKSGSLKVIGISQEESHPSRDGSHPHQLALSD
ALRGELQESSRKSPSERHVLGQPSRLVRQHNIQVPEILVTEEPDRDLEAQCHDQEKSEKF
SWPQRSETLSKLPTEKLPPKKKRLRLAEIEHSSTESSFDSTLSRSLSRESSLSHTSSFSA
SLDIEDVSKTEASPKIDFLNKAEFLMIPAGLNTLNVPGCHREMRRTASEQINCTQTSMEV
SDLRSKSFDCGSITPPQTTPLTELQPPSSPSRVGVTGHVPLLERRRGPLVRQISLNIAPD
SHLSPVHPTSFQNTALPSVNAVPYQGPQLTSTSLAEFSANTLHSQTQVKDLQAETSNSSS
TNVFPVQQLCDINLLNQIHAPPSHQSTQLSLQVSTQGSKPDKNSVLSGSSKSEDCFAPKY
QLHCQVFTSGPSCSSNPVHSLPNQVISDPVGTDHCVTSATLPTKLIDSMSNSHPLLPPEL
RPLGSQVQKVPSSFMLPIRLQSSVPAYCFATLTSLPQILVTQDLPNQPICQTNHSVVPIS
EEQNSVPTLQKGHQNALPNPEKEFLCENVFSEMSQNSSLSESLPITQKISVGRLSPQQES
SASSKRMLSPANSLDIAMEKHQKRAKDENGAVCATDVRPLEALSSRVNEASKQKKPILVR
QVCTTEPLDGVMLEKDVFSQPEISNEAVNLTNVLPADNSSTGCSKFVVIEPISELQEFEN
IKSSTSLTLTVRSSPAPSENTHISPLKCTDNNQERKSPGVKNQGDKVNIQEQSQQPVTSL
SLFNIKDTQQLAFPSLKTTTNFTWCYLLRQKSLHLPQKDQKTSAYTDWTVSASNPNPLGL
PTKVALALLNSKQNTGKSLYCQAITTHSKSDLLVYSSKWKSSLSKRALGNQKSTVVEFSN
KDASEINSEQDKENSLIKSEPRRIKIFDGGYKSNEEYVYVRGRGRGKYICEECGIRCKKP
SMLKKHIRTHTDVRPYHCTYCNFSFKTKGNLTKHMKSKAHSKKCVDLGVSVGLIDEQDTE
ESDEKQRFSYERSGYDLEESDGPDEDDNENEDDDEDSQAESVLSATPSVTASPQHLPSRS
SLQDPVSTDEDVRITDCFSGVHTDPMDVLPRALLTRMTVLSTAQSDYNRKTLSPGKARQR
AARDENDTIPSVDTSRSPCHQMSVDYPESEEILRSSMAGKAVAITQSPSSVRLPPAAAEH
SPQTAAGMPSVASPHPDPQEQKQQITLQPTPGLPSPHTHLFSHLPLHSQQQSRTPYNMVP
VGGIHVVPAGLTYSTFVPLQAGPVQLTIPAVSVVHRTLGTHRNTVTEVSGTTNPAGVAEL
SSVVPCIPIGQIRVPGLQNLSTPGLQSLPSLSMETVNIVGLANTNMAPQVHPPGLALNAV
GLQVLTANPSSQSSPAPQAHIPGLQILNIALPTLIPSVSQVAVDAQGAPEMPASQSKACE
TQPKQTSVASANQVSRTESPQGLPTVQRENAKKVLNPPAPAGDHARLDGLSKMDTEKAAS
ANHVKPKPELTSIQGQPASTSQPLLKAHSEVFTKPSGQQTLSPDRQVPRPTALPRRQPTV
HFSDVSSDDDEDRLVIAT

Sequence length

2718

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 Unknown Diseases (24)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Compulsive behaviors	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HIVEP1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE COMPULSIVE BEHAVIOR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	31157540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma	Breast Carcinoma	BEFREE	19934312, 20412594, 20886042, 23421821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17178888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20886042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32075680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30698832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17178888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19934312, 20412594, 20886042, 23421821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30698832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17178888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16762917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19934312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18430716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18430716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16359544, 20412594, 23975832, 24684412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17178888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	16762917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16762917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15705866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	27742707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	20226436, 21980494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HIVEP1 (HIVEP zinc finger 1)