Human Intermediate Filament Database

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Human Intermediate Filament Database

Statistics

STATISTICS FOR INTERMEDIATE FILAMENT TYPE I & II

Click here for the overall statistics.

Data by Intermediate Filament

Click here to download the table as a Microsoft Excel file.

Note: 'No. of Publications' and 'No. of Associated Diseases' are not additive as a single publication or disease may be common to multiple intermediate filament.

Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases
Type I 406 638 194 23
K9 74 3 43 1
K10 60 0 31 3
K12 20 4 14 1
K13 6 0 5 1
K14 161 16 63 9
K15 0 0 0 0
K16 28 0 12 3
K17 38 1 22 3
K18 16 8 7 5
K19 3 605 2 1
K20 0 0 0 0
K23 0 0 0 0
K24 0 0 0 0
K25 (K25irs1) 0 0 0 0
K26 (K25irs2) 0 0 0 0
K27 (K25irs3) 0 0 0 0
K28 (K25irs4) 0 0 0 0
K31 (Ha1) 0 1 1 0
K32 (Ha2) 0 0 0 0
K33a (Ha3-I) 0 0 0 0
K33b (Ha3-II) 0 0 0 0
K34 (Ha4) 0 0 0 0
K35 (Ha5) 0 0 0 0
K36 (Ha6) 0 0 0 0
K37 (Ha7) 0 0 0 0
K38 (Ha8) 0 0 0 0
K39 (Ka35) 0 0 0 0
K40 (Ka36) 0 0 0 0
Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases
Type II 437 453 172 32
K1 59 7 40 7
K2 (K2e) 30 0 16 1
K3 3 0 3 1
K4 6 0 4 1
K5 134 8 59 9
K6a 61 0 14 1
K6b 4 0 3 1
K6c (K6e/h) 4 0 2 1
K7 0 0 0 0
K8 88 426 15 7
K71 (K6irs1) 0 0 0 0
K72 (K6irs2) 0 0 0 0
K73 (K6irs3) 0 0 0 0
K74 (K6irs4) 0 0 0 0
K75 (K6hf) 0 1 1 1
K76 (K2p) 0 0 0 0
K77 (K1b) 0 0 0 0
K78 (K5b) 0 0 0 0
K79 (K6l) 0 0 0 0
K80 (Kb20) 0 0 0 0
K81 (Hb1) 8 5 6 1
K82 (Hb2) 0 0 0 0
K83 (Hb3) 1 2 1 1
K84 (Hb4) 0 0 0 0
K85 (Hb5) 1 0 1 1
K86 (Hb6) 38 4 16 1

Data by variant type

Click here to download the tables as a Microsoft Excel file.

Type of cDNA variation Number of unique proteins Number of variation records
1 428
Deletion 12 70
Duplication 2 8
Indel 4 9
Insertion 9 10
Substitution 23 1409
Type of protein variation Number of unique proteins Number of variation records
Deletion 11 46
Deletion, Substitution 1 1
Frame shift 5 30
Indel 3 6
Insertion 5 7
Silent 13 252
Substitution (Missense) 22 1141
Substitution (Nonsense) 4 19
Unknown 3 4

Data by affected domain

Click here to download the table as a Microsoft Excel file.

Domain name Number of unique proteins Number of variation records
Head 10 314
Head, 1A 2 4
Head, 2B 1 1
1A 15 384
1A, 2B 1 1
L1 1 1
1B 4 16
1B, 2B 1 1
L12 4 35
2A 3 3
L2 1 3
L2, 2B 1 1
2B 18 371
2B, Tail 1 1
Tail 3 17
Not affected 12 42
Unknown 1 2

Data by associated disease

Click here to download the table as a Microsoft Excel file.

Disease Number of variation records Unique intermediate filament proteins Stacked bars
EBS-DM 113 K14, K5
BCIE/EHK 97 K10, K1
EBS-WC 88 K14, K5
PC-1 84 K16, K17, K6a
EPPK 82 K10, K9, K16, K1
Monilethrix 51 K81, K86, K83
EBS-K 49 K14, K5
PC-2 36 K17, K6b
Liver disease 34 K18, K8
IBS 30 K2
MCD 23 K12, K3
IBD 22 K8
PBC 18 K18, K19, K8
EBS-MP 16 K14, K5
FNEPPK 13 K16, K6c
WSN 12 K13, K4
DDD 9 K5
REBS-K 7 K14, K5
Cryptogenic cirrhosis 7 K18, K8
Noncryptogenic cirrhosis 6 K8
Pancreatitis 6 K8
REBS 5 K14
SM 5 K17
NEPPK 5 K1
NFJS 4 K14
IHCM 3 K1
PPK 2 K1
EBS-MCE 2 K5
CIEH 2 K10
REBS-WC 2 K14
DPR 2 K14
Epidermolysis bullosa simplex with maternal somatic and germline mosaicism 1 K5
Epidermolysis bullosa simplex with severe palmoplantar hyperkeratosis 1 K5
SPPK 1 K1
Ectodermal Dysplasia, 'Pure' Hair-Nail Type 1 K85
GS 1 K1
Hepatic artery thrombosis 1 K18
Acute fulminant hepatitis 1 K18
Viral hepatitis 1 K8
PFB 1 K75

Nucleic acid substitution details
Chart Legend
A C G T

Nature of nucleic acid substitution

(Mouse over bars to see individual counts.)

Click here to download the table as a Microsoft Excel file.

Number in parenthesis indicates the percentage of the change in relation to all changes.

The darker the cell color, the higher the percentage change.

A C G T Total
A - 31
(2.19) 160
(11.32) 30
(2.12) 221
(15.64)
C 22
(1.56) - 52
(3.68) 166
(11.75) 240
(16.99)
G 373
(26.40) 49
(3.47) - 214
(15.15) 636
(45.01)
T 31
(2.19) 248
(17.55) 37
(2.62) - 316
(22.36)
Total 426
(30.15) 328
(23.21) 249
(17.62) 410
(29.02) 1413
(100.00)

Amino acid substitution details
Chart Legend
Amino acids with electrically positively charged side chains : K      R      H
Amino acids with electrically negatively charged side chains : D      E
Amino acids with polar but uncharged side chains : S      T      N      Q
Amino acids with hydrophobic side chains : A      I      L      M      F      W      Y      V
Special cases : P      C      G
Stop Codon : X
Nature of amino acid substitutions
(Mouse over bars to see individual counts.)

Click here to download the table as a Microsoft Excel file.

Number in parenthesis indicates the percentage of the change in relation to all changes.

The darker the cell color, the higher the percentage change.

A C D E F G H I K L M N P Q R S T V W X Y Total
A - 0
(0.00) 4
(0.34) 1
(0.09) 0
(0.00) 39
(3.35) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 3
(0.26) 0
(0.00) 0
(0.00) 3
(0.26) 12
(1.03) 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 63
(5.41)
C 0
(0.00) - 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 2
(0.17) 0
(0.00) 3
(0.26)
D 0
(0.00) 0
(0.00) - 2
(0.17) 0
(0.00) 2
(0.17) 3
(0.26) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 4
(0.34) 0
(0.00) 0
(0.00) 0
(0.00) 11
(0.94)
E 1
(0.09) 0
(0.00) 11
(0.94) - 0
(0.00) 5
(0.43) 0
(0.00) 0
(0.00) 87
(7.47) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 3
(0.26) 0
(0.00) 0
(0.00) 0
(0.00) 2
(0.17) 0
(0.00) 2
(0.17) 0
(0.00) 111
(9.53)
F 0
(0.00) 2
(0.17) 0
(0.00) 0
(0.00) - 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 2
(0.17) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 7
(0.60) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 13
(1.12)
G 1
(0.09) 185
(15.88) 2
(0.17) 0
(0.00) 0
(0.00) - 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 3
(0.26) 4
(0.34) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 197
(16.91)
H 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) - 0
(0.00) 0
(0.00) 2
(0.17) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 2
(0.17)
I 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 4
(0.34) 0
(0.00) 0
(0.00) - 0
(0.00) 1
(0.09) 2
(0.17) 6
(0.52) 0
(0.00) 0
(0.00) 0
(0.00) 15
(1.29) 6
(0.52) 18
(1.55) 0
(0.00) 0
(0.00) 0
(0.00) 52
(4.46)
K 0
(0.00) 0
(0.00) 0
(0.00) 3
(0.26) 0
(0.00) 0
(0.00) 0
(0.00) 1
(0.09) - 0
(0.00) 1
(0.09) 8
(0.69) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) 2
(0.17) 0
(0.00) 17
(1.46)
L 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 11
(0.94) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) - 1
(0.09) 0
(0.00) 39
(3.35) 9
(0.77) 6
(0.52) 4
(0.34) 0
(0.00) 4
(0.34) 0
(0.00) 0
(0.00) 0
(0.00) 75
(6.44)
M 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 1
(0.09) 4
(0.34) 0
(0.00) - 0
(0.00) 0
(0.00) 0
(0.00) 4
(0.34) 0
(0.00) 23
(1.97) 7
(0.60) 0
(0.00) 0
(0.00) 0
(0.00) 39
(3.35)
N 0
(0.00) 0
(0.00) 9
(0.77) 0
(0.00) 0
(0.00) 0
(0.00) 5
(0.43) 2
(0.17) 13
(1.12) 0
(0.00) 0
(0.00) - 0
(0.00) 0
(0.00) 0
(0.00) 44
(3.78) 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 5
(0.43) 79
(6.78)
P 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 15
(1.29) 0
(0.00) 0
(0.00) - 0
(0.00) 0
(0.00) 3
(0.26) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 18
(1.55)
Q 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 11
(0.94) - 2
(0.17) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 6
(0.52) 0
(0.00) 19
(1.63)
R 0
(0.00) 53
(4.55) 0
(0.00) 1
(0.09) 0
(0.00) 4
(0.34) 219
(18.80) 1
(0.09) 1
(0.09) 2
(0.17) 0
(0.00) 0
(0.00) 19
(1.63) 12
(1.03) - 7
(0.60) 2
(0.17) 0
(0.00) 23
(1.97) 0
(0.00) 0
(0.00) 344
(29.53)
S 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 4
(0.34) 0
(0.00) 0
(0.00) 5
(0.43) 0
(0.00) 0
(0.00) - 5
(0.43) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 15
(1.29)
T 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 4
(0.34) 0
(0.00) 1
(0.09) 2
(0.17) - 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 10
(0.86)
V 3
(0.26) 0
(0.00) 3
(0.26) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 2
(0.17) 0
(0.00) 8
(0.69) 14
(1.20) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) - 0
(0.00) 0
(0.00) 0
(0.00) 31
(2.66)
W 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) - 3
(0.26) 0
(0.00) 3
(0.26)
X 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) - 0
(0.00) 0
(0.00)
Y 0
(0.00) 4
(0.34) 4
(0.34) 0
(0.00) 0
(0.00) 0
(0.00) 51
(4.38) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 0
(0.00) 1
(0.09) 0
(0.00) 0
(0.00) 0
(0.00) 3
(0.26) - 63
(5.41)
Total 6
(0.52) 244
(20.94) 33
(2.83) 7
(0.60) 15
(1.29) 51
(4.38) 280
(24.03) 9
(0.77) 105
(9.01) 34
(2.92) 19
(1.63) 14
(1.20) 81
(6.95) 24
(2.06) 18
(1.55) 90
(7.73) 50
(4.29) 38
(3.26) 23
(1.97) 19
(1.63) 5
(0.43) 1165
(100.00)

Last modified: April 17 2009 14:28:40.

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