| General information of RDP00585 | |
|---|---|
| Gene Symbol: | GCK |
| RefSeq ID: | NM_000162 |
| Repeat coordinate: | chr7:44174856-44174922 (-) |
| Repeat size: | 22 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.002; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| MODY, type II, 125851 (3) | 138079 | 7p13 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Monogenic diabetes | NM_000162 | 0.50 | 0 | 8 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
44174857
.
T
TTCC
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
44174848
.
CTCTTCCTCTTCTTCT
C,CTCTTCT,TTCTTCCTCTTCTTCT,CTCT,CTCTCCTTCTTCCTCTTCTTCT
119943.60
7
44174853
rs536007765
CCTCTTCTT
CCTT,CTTCTCTTCTT,CCTTCTT,C,TCTCTTCTT
323857.65
7
44174856
rs867598228
CTT
C
678310.27
7
44174857
rs377075926
T
TTCC,TTCCTCCTCC,C,TTCCTCTTCC,TTCCTCCTCCTCC
1304202.46
7
44174858
.
T
TC
376553.72
7
44174859
.
CTT
C
356324.49
7
44174860
rs113859452
T
C,TCCTCC,TCC,TCTTCC
472435.03
7
44174861
.
TC
T
219568.77
7
44174862
.
CTTCTTCTTCT
CTCTTCTTCT,CTCT,CTCTTCT,C
206215
7
44174863
.
TTC
CTC,T
216024.69
7
44174866
rs201419472
T
C
97799.69
7
44174867
.
T
C
44467.96
7
44174869
.
T
C
45908.22
7
44174870
.
T
TCTC
21926.91
7
44174872
rs543297339
T
C
21501.04
7
44174875
.
T
C
7844.67
7
44174876
.
T
TCTC
2459.42
7
44174878
rs868675636
T
C
2641.92
7
44174880
.
CT
C,GT
1018.36
7
44174883
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
878.61
7
44174885
.
T
TCTTCTTCTC
1270.82
7
44174886
.
CT
C
1023.77
7
44174889
.
CTTCTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTTCTTCTTCTTCTTCTT,C,CTTCTTCTTCTTCTTCTTCTTCTTATTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTATTCTTCTTCTTCTTCTTCTTCTTCTT
4212.96
7
44174892
.
CTTCTTCTTCTTCTTCTTCTTCTT
CTCTTCTTCTTCTTCTTCTTCTT,C
22944.02
7
44174894
.
T
C
3790.59
7
44174895
.
CTTCTTCTTCTTCTTCTTCTT
C,CTCTTCTTCTTCTTCTTCTT
124292.29
7
44174897
.
T
C
24572.21
7
44174898
.
CTTCTTCTTCTTCTTCTT
C,CTCTTCTTCTTCTTCTT,GTTCTTCTTCTTCTTCTT
443749.72
7
44174900
rs183606969
T
TCTTCTTCTC,C,TCTTCTTCTTCTC,TCTTCTC,TCTTCTTCTTCTTCTC
288571.04
7
44174901
.
CTTCTTCTTCTTCTT
CTCTTCTTCTTCTT,C,GTTCTTCTTCTTCTT
697158.80
7
44174902
.
T
TTCC
688506.38
7
44174903
.
T
C
437261
7
44174904
rs57905575
CTTCTTCTTCTT
C,CTCTTCTTCTT
1609602.51
7
44174906
.
T
C
679305.07
7
44174907
rs59038347
CTTCTTCTT
CTCTTCTT,C,CTTGTTCTTCTT,CTTTTTCTTCTT
2113886.66
7
44174910
.
CTTCTT
C,CTCTT
2324384.22
7
44174912
rs866845410
T
C
2023109.08
7
44174913
.
CTT
C
2287407.12
7
44174914
rs113767488
T
C,TTCTTCC,TTCTTCTTCC,TTCC,TTCTTCTTCTTCC
3135584.01
7
44174919
.
CT
C
2276.29
7
44174920
.
T
C
2709.93
7
44174921
.
TC
T
3356.32
7
44174922
rs10680351
CCTACT
C,CTTCTACT
13280.55
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
44174854
rs56344674
CTCT
C
.
7
44174854
.
CTCTTCTTCTTCT
C
.
7
44174854
.
CTCTTCTTCTTCTTCTTCT
C
.
7
44174857
rs202166676
T
C
.
7
44174857
rs377075926
T
TTCC
.
7
44174859
.
CTTCT
CC
.
7
44174860
rs113859452
T
C
.
7
44174860
.
TTCT
C,CTCT,TTGT
.
7
44174862
.
C
G
.
7
44174863
.
T
C
.
7
44174866
rs201419472
T
C
.
7
44174868
.
C
G
.
7
44174869
.
T
C
.
7
44174871
.
CTTCTTCTTC
GTTCTCCTTG
.
7
44174872
rs543297339
T
C
.
7
44174873
rs188100610
T
C
.
7
44174874
.
C
G
.
7
44174875
.
T
C
.
7
44174877
.
C
G
.
7
44174878
.
T
C
.
7
44174878
.
TTCTTCTTCTTCTT
TCCTTCTTCTTCTT
.
7
44174879
.
T
C
.
7
44174880
.
C
G
.
7
44174881
.
T
C
.
7
44174882
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C
.
7
44174883
.
C
G
.
7
44174884
rs191781626
T
C
.
7
44174885
.
T
C
.
7
44174887
.
T
C
.
7
44174890
.
T
C
.
7
44174892
.
C
G
.
7
44174896
.
T
C
.
7
44174898
.
C
A
.
7
44174899
.
T
C
.
7
44174900
rs183606969
T
C
.
7
44174904
rs57905575
CT
C,CG
.
7
44174906
.
T
C
.
7
44174907
rs59038347
CTTCTTCTT
C
.
7
44174909
.
TCTTCTT
TCTTCTC
.
7
44174910
.
C
T
.
7
44174910
.
CT
C
.
7
44174911
.
TTCT
TTCC
.
7
44174911
.
TTCTT
TC,TTCCT,TTCTC
.
7
44174912
.
T
C
.
7
44174912
.
TCTT
TCCT,TCTC
.
7
44174912
.
T
TAC
.
7
44174913
.
C
CCTACT
.
7
44174913
.
CTT
C
.
7
44174914
rs113767488
T
A,C
.
7
44174914
.
T
TTCC
.
7
44174915
rs12702068
T
C
.
7
44174915
.
T
TAC,TCTC
.
7
44174920
.
T
C
.
7
44174920
.
T
TTC
.
7
44174922
.
C
A,T
.
7
44174922
rs10680351
C
CCT,CTTCTTCTTCTTCTTCTCCTTCTTC,CTTC,CTT
.
7
44174922
rs771902941
CCTACT
C
.