Gene Report

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Basic Info

Approved Symbol	MAD1L1
Symbol Alias	HsMAD1, TXBP181, MAD1, PIG9, TP53I9
Approved Name	MAD1 mitotic arrest deficient-like 1 (yeast)
Previous Name	MAD1 (mitotic arrest deficient, yeast, homolog)-like 1
Location	7p22
Position	chr7:1815793-2233243, -1
External Links	HGNC: 6762 Entrez Gene: 8379 Ensembl: ENSG00000002822 UCSC: uc003slg.1
No. of Studies	5 (Positive: 1; Negative: 2; trend: 2)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cichon, S.,2011	SNP: rs10278591, rs11764590	In summary, the present study has identified a potential BD susceptibility factor, MAD1L1.	Trend	Comment on Study
Green, E. K.,2012	SNP: rs4332037	BD ImmunoChip:P-value = 0.739,OR = 1.022;ImmunoChip, PGC-BD combined data:P-balue = 0.0000429,OR = 0.914 No significant association was observed.	Negative	Comment on Study
Sklar, P.,2011	SNP: rs4332037	Suggestive association was found.	Trend	Comment on Study
Ruderfer, D. M., 2013	SNP: rs10275045	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study
Kondo, K.,2013		Significant association was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0005813	centrosome	cellular component	NAS[9546394]	34
GO:0007094	mitotic spindle assembly checkpoint	biological process	TAS	1
GO:0090235	regulation of metaphase plate congression	biological process	IDA[20133940]	1
GO:0007067	mitotic nuclear division	biological process	IEA	15
GO:0015629	actin cytoskeleton	cellular component	IDA	18
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0000776	kinetochore	cellular component	IDA[20133940]; IDA[17363900]	7
GO:0072686	mitotic spindle	cellular component	IDA[20133940]	2
GO:0000777	condensed chromosome kinetochore	cellular component	IEA	7
GO:0005643	nuclear pore	cellular component	IDA[18981471]	3
GO:0007093	mitotic cell cycle checkpoint	biological process	NAS[9546394]	5
GO:0005819	spindle	cellular component	NAS[9546394]	9
GO:0051301	cell division	biological process	IEA	20
GO:0005829	cytosol	cellular component	TAS	223
GO:0005515	protein binding	molecular function	IPI[12006501]	563

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04110	Cell cycle	8

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 18)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MAD1L1	AMOTL2	NO	yeast 2-hybrid	16189514
MAD1L1	MAD2L1	NO	in vitro	11459826
MAD1L1	NONO	NO	yeast 2-hybrid	16189514
MAD1L1	HDAC2	NO	in vitro	15388328
MAD1L1	SIN3A	NO	in vitro	11106735
MAD1L1	HDAC1	NO	in vitro	15388328
MAD1L1	NEK2	NO	in vitro;in vivo;yeast 2-hybrid	14978040
MAD1L1	FAM131C	NO	yeast 2-hybrid	16189514
MAD1L1	NINL	NO	yeast 2-hybrid	16189514
MAD1L1	MLX	NO	in vitro;yeast 2-hybrid	10593926
MAD1L1	SIN3B	NO	in vitro;in vivo;yeast 2-hybrid	11370785 , 11101889
MAD1L1	TUBGCP4	NO	yeast 2-hybrid	16189514
MAD1L1	MAX	NO	in vitro	10229200
MAD1L1	TEX11	NO	yeast 2-hybrid	16189514
MAD1L1	UBTF	NO	in vitro;in vivo	15282543
MAD1L1	COIL	NO	yeast 2-hybrid	16713569
MAD1L1	NDC80	NO	in vivo;yeast 2-hybrid	12351790
MAD1L1	TRIM29	NO	yeast 2-hybrid	16189514

Related other genetic factors

Gene related SNPs (count: 29)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11764590	chr7:1993168 - 1993168(1)	intron_variant	1(0/0/1)
rs3757440	chr7:2233301 - 2233301(1)	downstream_gene_variant; upstream_gene_variant	1(1/0/0)
rs7787274	chr7:2236358 - 2236358(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs6461233	chr7:2221833 - 2221833(1)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(1/0/0)
rs10278591	chr7:1881726 - 1881726(1)	intron_variant	1(0/0/1)
rs10240470	chr7:1910335 - 1910335(1)	intron_variant	1(1/0/0)
rs10275045	chr7:1881190 - 1881190(1)	intron_variant	1(0/1/0)
rs4332037	chr7:1911173 - 1911173(1)	intron_variant	3(1/1/1)
rs3996329	chr7:1979235 - 1979235(1)	downstream_gene_variant; intron_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs868754	chr7:1994145 - 1994145(1)	intron_variant
rs11773627	chr7:1963098 - 1963098(1)	intron_variant
rs1533827	chr7:2034655 - 2034655(1)	intron_variant
rs11762636	chr7:2021476 - 2021476(1)	intron_variant
rs3823624	chr7:2070711 - 2070711(1)	intron_variant; non_coding_transcript_variant
rs11772627	chr7:2070186 - 2070186(1)	intron_variant; non_coding_transcript_variant
rs3996325	chr7:2014112 - 2014112(1)	downstream_gene_variant; intron_variant
rs1533829	chr7:2043206 - 2043206(1)	intron_variant
rs10276536	chr7:2047325 - 2047325(1)	intron_variant
rs6951956	chr7:1894495 - 1894495(1)	downstream_gene_variant; intron_variant
rs10268609	chr7:1922527 - 1922527(1)	intron_variant
rs11764124	chr7:1852087 - 1852087(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs11770148	chr7:1859811 - 1859811(1)	intron_variant; non_coding_transcript_variant
rs11764337	chr7:1852673 - 1852673(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7788921	chr7:1875646 - 1875646(1)	intron_variant; upstream_gene_variant
rs4719331	chr7:1875043 - 1875043(1)	intron_variant; upstream_gene_variant
rs1403175	chr7:1924721 - 1924721(1)	intron_variant
rs10267593	chr7:1897625 - 1897625(1)	downstream_gene_variant; intron_variant
rs6461009	chr7:1912503 - 1912503(1)	intron_variant
rs6947019	chr7:1910701 - 1910701(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
24280982	The SNP within or near this gene did not achieve genome-wide significance.	Negative
23967141	No significant association was observed.	Negative

Gene relationship with MDD

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Region: chr7:1815793..2233243 View in gBrowse