Region Report

Basic Info

Region Name	Chr 16
Chromosome Position	chr16:0-90338345
No. of Studies (Positive/Negative/Trend)	5(1/3/1)

Region related studies (count: 5)

Reference	Markers	Statistical Values	Author Comments	Result Category
Foroud, T.,2000	D16S749	Genome-Wide Linkage Results: LOD = 0.6 on Model I, LOD = 1.2...... Genome-Wide Linkage Results: LOD = 0.6 on Model I, LOD = 1.2 on Model II, LOD = 1.7 on Model III More...	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
Dick, D. M.,2002		Linkage analysis: Model 3, Affected relative pairs LOD = 2.1...... Linkage analysis: Model 3, Affected relative pairs LOD = 2.13, Location 36cM; Affected sibling pairs: sib IBD LOD = 2.28, Location 36cM, sib Phase LOD = 1.69, Location 32cM More...	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
Ross, J.,2008	D16S748, D16S2619, and D16S3103	Multipoint linkage analysis: BPII-Dom model, the highest mul...... Multipoint linkage analysis: BPII-Dom model, the highest multipoint score was 4.91 More...	Significant linkage was found in this region. Significant linkage was found in this region.	Positive
Murphy, V. E.,2000	D16S496	Linkage analysis: broad model, NPL = 1.33, P-value = 0.07; n...... Linkage analysis: broad model, NPL = 1.33, P-value = 0.07; narrow model, NPL = 0.331, P-value = 0.3 More...	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
Avramopoulos, D., 2007	D16S3068 (BPI, BPII), D16S415 (BPI, restricted)	P-value = 0.07, NPL = 1.47, Dominant Max HLOD = 0.23, Rec...... P-value = 0.07, NPL = 1.47, Dominant Max HLOD = 0.23, Recessive Max HLOD = 0.73 in Ashkenazi pedigrees; P-value = 0.03, NPL = 1.96, Dominant Max HLOD = 0.55, Recessive Max HLOD = 0.67 in BPI-restricted pedigrees More...	the absolute value of the resulting scores remained moderate the absolute value of the resulting scores remained moderate	Negative

Region related genes (count: 39)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CREBBP	CREB binding protein	16p13.3	1(0/1/0)
GRIN2A	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	16p13.2	1(1/0/0)
ABCC12	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	16q12.1	1(0/1/0)
AQP8	aquaporin 8	16p12	1(0/0/1)
ACSM1	acyl-CoA synthetase medium-chain family member 1	16p12.3	1(0/0/1)
RPGRIP1L	RPGRIP1-like	16q12.2	1(0/1/0)
HS3ST4	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	16p11.2	1(1/0/0)
SHISA9	shisa family member 9	16p13.12	1(0/1/0)
ATP6V0D1	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	16q22	1(1/0/0)
PSKH1	protein serine kinase H1	16q22.1	1(1/0/0)
PLCG2	phospholipase C, gamma 2 (phosphatidylinositol-specific)	16q24.1	1(0/1/0)
CCP110	centriolar coiled coil protein 110kDa	16p12.3	1(0/0/1)
RBFOX1	RNA binding protein, fox-1 homolog (C. elegans) 1	16p13.3	6(2/2/2)
IRF8	interferon regulatory factor 8	16q24.1	1(1/0/0)
CLEC16A	C-type lectin domain family 16, member A	16p13.13	1(0/0/1)
ACSM2A	acyl-CoA synthetase medium-chain family member 2A	16p12.3	1(0/0/1)
CMIP	c-Maf inducing protein	16q23	1(0/1/0)
NDE1	nudE neurodevelopment protein 1	16p13.11	1(1/0/0)
SSTR5	somatostatin receptor 5	16p13.3	2(1/1/0)
NQO1	NAD(P)H dehydrogenase, quinone 1	16q12-q22	1(0/1/0)
CDH15	cadherin 15, type 1, M-cadherin (myotubule)	16q24.3	1(1/0/0)
ERCC4	excision repair cross-complementation group 4	16p13.3	1(0/0/1)
PALB2	partner and localizer of BRCA2	16p12.1	5(2/2/1)
TAOK2	TAO kinase 2	16p11.2	1(0/1/0)
ADCY9	adenylate cyclase 9	16p13.3	2(1/1/0)
NLRC5	NLR family, CARD domain containing 5	16q13	1(0/1/0)
GSPT1	G1 to S phase transition 1	16p13.1	1(0/0/1)
DNAH3	dynein, axonemal, heavy chain 3	16p12.2	1(0/0/1)
VWA3A	von Willebrand factor A domain containing 3A	16p12.1	1(0/0/1)
ANKS4B	ankyrin repeat and sterile alpha motif domain containing 4B	16p12.2	1(0/0/1)
UMOD	uromodulin	16p12.3	1(0/0/1)
SLC6A2	solute carrier family 6 (neurotransmitter transporter), member 2	16q12.2	2(0/2/0)
WWOX	WW domain containing oxidoreductase	16q23.1-q23.2	1(1/0/0)
ABCC11	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	16q12	1(0/0/1)
CDH13	cadherin 13	16q23.3	3(2/1/0)
USP31	ubiquitin specific peptidase 31	16p12.3	1(0/0/1)
LRRC36	leucine rich repeat containing 36	16q22.1	1(1/0/0)
MKL2	MKL/myocardin-like 2	16p13.12	1(0/0/1)
ITPRIPL2	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	16p12.3	1(0/0/1)

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Region: chr16:0..90338345 View in gBrowse