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Table 5 Breed-specific genomic structures containing functional SNPs

From: Systematically identifying genetic signatures including novel SNP-clusters, nonsense variants, frame-shift INDELs, and long STR expansions that potentially link to unknown phenotypes existing in dog breeds

Breed

Chromosomal position

Length of breed-specific segments (kb)

Predicted effect(s) of functional BSGS

Gene(s) harboring functional BSGS

BSGS by variant type

Average signature density within segments (per kb)

SNP

INDEL

STR

Total

Airedale Terrier

chr17:50012842-50334447

321.61

missense variant

C17H2orf78

20

2

1

23

0.07

chr18:40906402-41128015

221.61

missense variant

LOC541568

14

2

0

16

0.07

chr19:36987575-37291223

303.65

missense variant

NCKAP5

8

3

0

11

0.04

Akita

chr5:13130523-13821043

690.52

missense variant

ARHGEF12

41

5

2

48

0.07

chr11:50780958-51865662

1084.70

missense variant

AQP3,NFX1,NOL6

214

47

8

269

0.25

chr16:46717493-46747972

30.48

missense variant

KLKB1

14

3

1

18

0.59

chr17:1900616-2086392

185.78

missense variant

EIPR1

180

23

1

204

1.10

chr20:32827427-33003228

175.80

missense variant

SLMAP

36

13

2

51

0.29

chr20:45760355-45826036

65.68

missense variant

NIBAN3

20

2

0

22

0.33

chr20:57465169-57523512

58.34

missense variant

JSRP1

15

8

0

23

0.39

chr39:2844637-2852948

8.31

missense variant

LOC119863881

34

0

0

34

4.09

Alaskan Malamute

chr3:69753539-70407326

653.79

missense variant

SLC2A9

18

2

0

20

0.03

chr6:56960224-57238550

278.33

missense variant

BTBD8

15

2

0

17

0.06

chr13:29471613-29610932

139.32

missense variant

TMEM71

36

8

1

45

0.32

chr28:10027450-10507275

479.83

missense variant

PIK3AP1

60

10

0

70

0.15

chr33:25013992-25443707

429.72

missense variant

FBXO40,GOLGB1

17

4

1

22

0.05

Basset Hound

chr6:11567280-12032579

465.30

missense variant

KDELR2

15

4

0

19

0.04

Border Terrier

chr7:44609315-44717971

108.66

missense variant

LOXHD1

37

4

0

41

0.38

Boxer

chr9:5285601-5673185

387.58

missense variant

MYO15B,SAP30BP

63

13

0

76

0.20

chr9:5976051-6889524

913.47

missense variant

CD300A,OTOP2

81

5

0

86

0.09

Bull Terrier

chr12:42661670-43044269

382.60

conservative inframe deletion

TENT5A

74

19

2

95

0.25

chr25:27475233-28024366

549.13

missense variant

RP1L1

11

6

0

17

0.03

Bullmastiff

chr3:81428987-81653622

224.64

missense variant

LOC100855743

17

0

1

18

0.08

Chow Chow

chr2:66263373-66419275

155.90

missense variant

C2H16orf78

30

1

0

31

0.20

chr6:10001047-10033168

32.12

missense variant

ZKSCAN5

14

1

0

15

0.47

chr6:35660731-36998304

1337.57

missense variant

UBN1

94

14

1

109

0.08

chr6:37415262-37953252

537.99

missense variant

SLX4

50

13

2

65

0.12

chr6:39076486-39991490

915.00

missense variant

IFT140

40

4

0

44

0.05

chr6:40096729-40357537

260.81

missense variant

CAPN15

8

2

0

10

0.04

chr8:45284725-45472976

188.25

disruptive inframe deletion

SIPA1L1

32

5

0

37

0.20

chr8:47891946-48095655

203.71

missense variant

LTBP2

20

4

1

25

0.12

chr12:45073213-45281875

208.66

missense variant

CEP162

34

16

0

50

0.24

chr21:29910017-30083728

173.71

missense variant

LOC119864893,OR56A9

37

9

1

47

0.27

Collie

chr8:16704547-16837067

132.52

missense variant

CLEC14A

30

2

0

32

0.24

Dalmatian

chr10:70276981-70321406

44.43

missense variant

ANKRD53

9

1

0

10

0.23

Doberman Pinscher

chr16:28937962-29623842

685.88

missense variant

STAR

67

11

2

80

0.12

Keeshond

chr18:15139406-15507417

368.01

missense variant

PUS7

110

22

2

134

0.36

Manchester Terrier

chr12:6091394-6413779

322.39

missense variant

RAB44

23

2

0

25

0.08

Miniature Schnauzer

chr7:31127300-31246535

119.24

missense variant

MAEL

11

3

0

14

0.12

chr12:56024371-56111012

86.64

missense variant

GPR63

25

2

0

27

0.31

chr35:25561153-25688479

127.33

missense variant, nonsense variant

LOC488316

13

2

1

16

0.13

Norwich Terrier

chr5:81757408-82203908

446.50

missense variant

CTRL,SLC12A4

56

14

1

71

0.16

chr5:82436555-82644745

208.19

frameshift variant, missense variant

ZDHHC1,PLEKHG4

50

6

1

57

0.27

chr18:52446869-52865246

418.38

missense variant

PCNX3,SNX32

17

3

0

20

0.05

chr31:35605994-35898910

292.92

missense variant

ZBTB21

29

2

0

31

0.11

Rhodesian Ridgeback

chr17:23337069-23518139

181.07

missense variant

TOGARAM2

44

7

0

51

0.28

Samoyed

chr38:22312813-22437410

124.60

nonsense variant

SLAMF8

21

2

0

23

0.18

Sussex Spaniel

chr11:51803380-51998833

195.45

nonsense variant

LOC119873934

23

6

0

29

0.15

chr15:22956579-23128659

172.08

missense variant

OTOGL

59

14

2

75

0.44

chr27:5355786-6049814

694.03

missense variant

LMBR1L

34

4

1

39

0.06

chr30:14802522-15274095

471.57

missense variant

CEP152

104

24

0

128

0.27