European Journal of Human Genetics - Table 2 for article: Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes

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Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

Ghazala Mirza, Ruth R Williams, Shela Mohammed, Robin Clark, Ruth Newbury-Ecob, Shari Baldinger, Frances Flinter and Jiannis Ragoussis

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Table 2. Data compiled from the Ensembl database (http://www.ensembl.org/), and the Sanger Institute's FPC database (see Methods for description)

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	Genes	Marker/clone information	Additional information	Distance from 6p Telomere (Mb)	Chromosome location 6p
1	NOVEL	AL353654	Similar to Septin	0.117	25.2
2	Q9NRW4		Protein kinase phosphatase	0.277	25.2
3	IRF4		Interferon Regulatory Factor 4	0.377	25.2
4	Q96KP1		Ambiguous	0.471	25.2
5	QUJM7		Exocyst Complex component		25.2
6	NOVEL	AL031770	Unknown	0.587	25.2
7	Q9C009	AL499606	Winged Helix Forkhead	1.3	25.2
8	FOXF2	RP11-13J16	Forkhead Box Protein F2		25.2
9	FOXC1	AL034344	Forkhead Domain Transcription Factor	1.56	25.2
10	GMDS	AL033517	GDP Mannose,4,6 Dehydratase	1.71	25.2
11	NOVEL		Unknown	1.89	25.2

Patient 5	Distal	Breakpoint
12	AL035693	RP1-33B19		2.07	25.2
13	000366	RP1-136B1	Belongs to LINE1	2.4	25.2
14	NOVEL	RP1-136B1	Reverse Transcriptase	2.4	25.2
15	Q96MT4	RP11-145H9	Unknown	2.6	25.2
16	NOVEL	RP11-145H9	Myosin Light Chain Kinase,Smooth Muscle		25.2
17	Q8WV26	AL139092	A Werner Helicase Interacting Protein isoform 1,	2.7	25.2
18	SERPIN B1	RP11420G6	Monocyte/Neutrophil Elastase Inhibitor	2.8	25.2
19	SERPIN B9	AL133351(RP1-90J20)	Cytoplasmic Antiproteinase 3	2.8	25.2
20	SERPIN B0	RP1-90J20	Placental Thrombin Inhibitor	2.9	25.2
21	Q96NM8	RP1-90J20	Unknown	2.97	25.2
22	NQ02	RP1-90J20	Quinone Reductase 2(Dehydrogenase)	3	25.2
23	NOVEL	RP1-40E16	Unknown	3	25.2
24	RIPK1	RP1-40E16(D6S1338)	Receptor-interacting Serine/Threonine	3.06	25.2
			Protein Kinase 2
25	BPHL	RP1-40E16(D6S1890)	Biphenylhydrolase-like	3.1	25.2
26	TUBB	RP1-40E16	Tubulin	3.13	25.2
27	NOVEL		Tubulin protein Family	3.14	25.2

Patient 6	Distal	Breakpoint
28	NOVEL		Ion Transporter	3.25	25.2
29	Q9UFY2	RP11-15N12	Ion Transporter Family	3.3	25.2
30	NOVEL	RP1-72E17(D6S1196E)	Unknown	3.7	25.2
31	Q9Y247		Belongs to XAP5 Protein HXC26 family	3.8	25.2
32	Q9HD87	AL138831	Unknown	3.96	25.2
33	Q8TDP2,Q9NQH:	RP5-1013A10(D6S1932)	Serine/Threonine protein kinase		25.2
34	NOVEL	D6S1142E	Unknown	4.05	25.2
35	PECI	D6S1142E	Peroxisomal 3,2-trans-enoyl-coa isomerase		25.2

Patient 1	Breakpoint
36	NOVEL		Unknown	4.1
37	CDYL	RP5-1013A10	Chromodomain protein, Y-chromosome like	4.7	25.1
40	Q9BW22		Overlaps with CDYL		25.1
41	Q9UI73	RP3-430A16	Unknown	4.9	25.1
42	NOVEL	RP11-428J1		4.9	25.1
43	NOVEL	AL359643	Unknown		25.1
44	RP40	RP11-428J1	A ribonuclease P protein subunit P40	4.98	25.1
45	Q8WY88	D6S1789	Unknown		25.1
46	Q96DD8	RP1-67E13	CG1-203 protein	5.1	25.1
47	Q95363	RP11-105L5	Phenylalanine-tRNA, Synthetase	5.35	25.1
48	Q9NPY7		Unknown	5.35	25.1
49	095363	D6S1466	Phenyalanine-tRNA synthetase	5.4	25.1
50	Q9NTM1	D6S1685		5.7	25.1
51	Q9NPD7	D6S477		6	25.1
52	NRN-1	AL136307	Neuritin		25.1

Patient 2	Breakpoint
53	F13A	D6S142	Coagulation Factor X111 Achain		25.1
54	Q9BX20	RP11-232H4		6.13	25.1
55	Q9NQP5	RP398D13		6.2	25.1
56	MD1-HUMAN	D6S1442		6.57	25.1

Patient 3	Breakpoint
57	AL031123.14.1	RP11-320C15		6.57	25.1
58	RREB1		Ras responsive element binding protein	7.1	24.3
59	SSR1	RP11-69L16	Tranlocon-associated protein	7.27	24.3
60	Q8TC20	RP11-69L16	Unknown	7.3	24.3
61	Q9BRS2	D6S1640	Unknown	7.4	24.3
62	NOVEL		Belongs to nuclear ribonucleoprotein	7.5	24.3
63	Q9H302		NADP & specific isocitrate dehydrogenase	7.5	24.3
64	DSP	RP3-512B11	Desmoplakin	7.5	24.3
65	Q96MK1	512B11	Novel	7.57	24.3
66	Q9H4S5	AL390026			24.3
67	Q9H4S4	DJ336K20	Bipartite nuclear localisation signal, unknown protein family	7.6	24.3
68	BMP6	D6S1842	Bone morphogenetic protein 6 precursor	7.7	24.3
69	Q8TCT2	D6S1931	Thioredoxin related protein	7.9	24.3
70	Q8TBY6	RP1-303A1	Similar to phosphatidylinositol-4-phosphate5 kinase, type1-alpha	7.97	24.3
71	075662	RP1-303A1	Muted protein	8	24.3
72	Q9NU16			8	24.3
73	075662	D6S1674	Overlaps with muted protein	8.01	24.3
74	EEF1E1	D6S1855	Multi synthetase complex auxiliary component	8.1	24.3
75	CAA19223.7	D6S309	Overlaps with EEF1E1		24.3

Patient 5	Proximal	Breakpoint
76	Q9H1N7		CG1-19 protein	8.4	24.3
Patient 4	Breakpoint
77	NM153003	DJ503N11	MRDS1, orofacial clefting chromosomal breakpoint region 1	10.02	24.3

Patient 6	Proximal	Breakpoint
78	NOVEL	D6S1955	Ribosomal	10.2	24.3
79	TFAP2A	RP1-290I10	Transcription factor	10.46	24.3/24.2
80	NOVEL		Unknown	10.5	24.2
81	CAC38372.1	RP11-360019			24.2

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TABLE 2

Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

Table 2. Data compiled from the Ensembl database (http://www.ensembl.org/), and the Sanger Institute's FPC database (see Methods for description)