BBS9 - Bardet-Biedl syndrome 9-BMKCloudï½ç¾è¿å®¢äº

100525726 BBS9

基因描述

Type	Description
Definition	Bardet-Biedl syndrome 9

研究结论

Date	Results	Publications
2019-01-19 10:07:00	Study in a Large White pig population show that the positive effect on growth is induced by a heterozygous loss-of-function of the BBS9 gene, associated with obesity in human and mouse. However, late fetal mortality is induced by insufficient expression of the BMPER gene located directly downstream of the deletion which affects its regulatory elements required for gene expression.	30231021

名称对应

Type	IDs
Gene
Nucleutide sequences
Protein sequencees	RefSeq: XP_020934993.1, XP_020934997.1, XP_020934998.1, XP_020934995.1, XP_020934991.1, XP_020934986.1, XP_020934989.1, XP_020934987.1, XP_020934990.1, XP_020934996.1, XP_020934994.1, XP_020934992.1
Others	UniGene: Ssc.3254

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{{proteinIndex+1}}	mRNA	Protein	UniprotKB	Description
Refseq	{{protein.nucleotideVersion}} Ensembl: {{protein.nucleotideEnsembl}}	{{protein.proteinVersion}} Ensembl: {{protein.proteinEnsembl}}	{{uniprot}}	Definition: {{{protein.definition}}} Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}}
Location	( {{protein.positionStart}}..{{protein.positionEnd}} )
Conserved domain	Region: {{conservedDomain.region == '' \|\| conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' \|\| conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' \|\| conservedDomain.family == null ? "-": conservedDomain.family}} CDD:	{{conservedDomain.comments == '' \|\| conservedDomain.comments == null ? "-" : conservedDomain.comments }}	Region: {{conservedDomain.region == '' \|\| conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' \|\| conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' \|\| conservedDomain.family == null ? "-": conservedDomain.family}} CDD:	{{conservedDomain.comments == '' \|\| conservedDomain.comments == null ? "-" : conservedDomain.comments }}

mRNA

Protein

UniprotKB

Description

Refseq

Ensembl: {{protein.nucleotideEnsembl}}

Ensembl: {{protein.proteinEnsembl}}

Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location

( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

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Pubmed编号	文献信息	发表日期	相关基因
30231021	Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. PLoS Genet. Martijn F L Derks , Marcos S Lopes , Mirte Bosse , Ole Madsen , Bert Dibbits , Barbara Harlizius , Martien A M Groenen , Hendrik-Jan Megens	2018-09-01	-
17145712	PEDE (Pig EST Data Explorer) has been expanded into Pig Expression Data Explorer, including 10 147 porcine full-length cDNA sequences. Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi-Ogawa , Hiroki Shinkai , Naohiko Okumura , Kohei Suzuki , Daisuke Toki , Noriyuki Hamasima , Takashi Awata	2007-01-01	SPARCL1, SLA-3, DYNC1H1, SLA-1, P4HA1, DNMT3A, CPE, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, C9, C8A, C8G, SEPP1, LOC100037968, SLC7A7, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, TMSB10, ATPIF1, RCHY1, CD1E, SEP15, CCL11, CD72, COX6B, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, SDHD, C5AR1, ABCG8, CYB561, GNAS, RBM39, BRCA1, KRT2, HPS4, BLOC1S5, BLOC1S6, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5, AMPD1, MMP12, MYOT, COL6A3, EIF4E2, PPP2R5A, IFIH1, EIF4A2, EIF4A1, SQLE, CYP39A1, ALG2, BPIFB2, BPIFB5, CYP4F2, SLC44A4, DXO, NIFK, CD1D, SNCG, LNPEP, MUC13, COPS5, SIRT2, SIRT3, RBM38, ANGPTL2, STC2, AQP4, LASS6, CD302, CYP3A46, KRT18, PEX6, CNPY3, MEA1
14681463	PEDE (Pig EST Data Explorer): construction of a database for ESTs derived from porcine full-length cDNA libraries. Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi , Kohei Suzuki , Tetsuya Sawazaki , Daisuke Toki , Hiroki Shinkai , Naohiko Okumura , Noriyuki Hamasima , Takashi Awata	2004-01-01	PIK3R6, DESI2, ENPP1, SPARCL1, NREP, SLA-3, IRF7, DYNC1H1, SLA-1, P4HA1, DNMT3A, SEPHS2, SGMS1, CPE, BIN1, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, LOC100037950, C9, C6, C8A, C8B, C8G, LOC100037957, CAPZA2, CTSB, SEPP1, LOC100037968, SLC7A7, C2H19orf70, ATP5J2, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, RPS26, TMSB10, TPM1, ATPIF1, KLF7, RCHY1, PCD1B, CD1E, SEP15, CCL11, CD72, PVRL2, COX6B, RPS6, CLEC7A, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, ADSS, SDHD, C5AR1, BTG3, GNA14, NAGS, TNMD, ABCG8, YWHAQ, PGRMC2, CYB561, CNN3, GNAS, RBM39, BRCA1, EDN3, KRT2, HPS4, BLOC1S5, BLOC1S6, RABGGTA, MLPH, ATP7B, CRYZL1, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5

Pubmed编号

文献信息

发表日期

相关基因

30231021

Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome.

PLoS Genet. Martijn F L Derks , Marcos S Lopes , Mirte Bosse , Ole Madsen , Bert Dibbits , Barbara Harlizius , Martien A M Groenen , Hendrik-Jan Megens

2018-09-01

17145712

PEDE (Pig EST Data Explorer) has been expanded into Pig Expression Data Explorer, including 10 147 porcine full-length cDNA sequences.

Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi-Ogawa , Hiroki Shinkai , Naohiko Okumura , Kohei Suzuki , Daisuke Toki , Noriyuki Hamasima , Takashi Awata

2007-01-01

SPARCL1, SLA-3, DYNC1H1, SLA-1, P4HA1, DNMT3A, CPE, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, C9, C8A, C8G, SEPP1, LOC100037968, SLC7A7, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, TMSB10, ATPIF1, RCHY1, CD1E, SEP15, CCL11, CD72, COX6B, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, SDHD, C5AR1, ABCG8, CYB561, GNAS, RBM39, BRCA1, KRT2, HPS4, BLOC1S5, BLOC1S6, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5, AMPD1, MMP12, MYOT, COL6A3, EIF4E2, PPP2R5A, IFIH1, EIF4A2, EIF4A1, SQLE, CYP39A1, ALG2, BPIFB2, BPIFB5, CYP4F2, SLC44A4, DXO, NIFK, CD1D, SNCG, LNPEP, MUC13, COPS5, SIRT2, SIRT3, RBM38, ANGPTL2, STC2, AQP4, LASS6, CD302, CYP3A46, KRT18, PEX6, CNPY3, MEA1

14681463

PEDE (Pig EST Data Explorer): construction of a database for ESTs derived from porcine full-length cDNA libraries.

Nucleic Acids Res. Hirohide Uenishi , Tomoko Eguchi , Kohei Suzuki , Tetsuya Sawazaki , Daisuke Toki , Hiroki Shinkai , Naohiko Okumura , Noriyuki Hamasima , Takashi Awata

2004-01-01

PIK3R6, DESI2, ENPP1, SPARCL1, NREP, SLA-3, IRF7, DYNC1H1, SLA-1, P4HA1, DNMT3A, SEPHS2, SGMS1, CPE, BIN1, TNFRSF1B, SLA-DQB1, CD14, APOBEC3F, PDE4B, KCND3, KCNIP2, UIMC1, LOC100037950, C9, C6, C8A, C8B, C8G, LOC100037957, CAPZA2, CTSB, SEPP1, LOC100037968, SLC7A7, C2H19orf70, ATP5J2, PET100, TOMM7, NDUFC1, SLIRP, LOC100037988, COX6C, COX7C, NDUFV2, PSMB7, RPL10A, RPL14, RPL27, RPS21, RPS26, TMSB10, TPM1, ATPIF1, KLF7, RCHY1, PCD1B, CD1E, SEP15, CCL11, CD72, PVRL2, COX6B, RPS6, CLEC7A, RPL4, EIF4E, LGALS3, SNRPE, ZFAND5, ADSS, SDHD, C5AR1, BTG3, GNA14, NAGS, TNMD, ABCG8, YWHAQ, PGRMC2, CYB561, CNN3, GNAS, RBM39, BRCA1, EDN3, KRT2, HPS4, BLOC1S5, BLOC1S6, RABGGTA, MLPH, ATP7B, CRYZL1, PNPLA3, SRGN, SPTAN1, BIRC6, HPS5

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