ClinGen Dosage Sensitivity Curation Page

Location Search Results

  • Submitted location: chr2:41,800,001-55,000,000

"N/A" indicates that this gene has not yet been evaluated

Links

Location search results
Gene Symbol Haploinsufficiency score Triplosensitivity score Curation Status Region Location (GRCh37) ExAC pLI OMIM Relationship to Submitted Location ISCA ID
LDHAP3 N/A N/A Awaiting Review chr2:42,046,788-42,048,789 Contained ISCA-33353
RPS12P4 N/A N/A Awaiting Review chr2:42,077,321-42,077,823 Contained ISCA-22493
RNU4-63P N/A N/A Awaiting Review chr2:42,098,411-42,098,528 Contained ISCA-43811
LINC01913 N/A N/A Awaiting Review chr2:42,104,695-42,121,186 Contained ISCA-13257
LINC01914 N/A N/A Awaiting Review chr2:42,158,739-42,160,863 Contained ISCA-43466
C2orf91 N/A N/A Awaiting Review chr2:42,162,508-42,180,943 Contained ISCA-28709
PKDCC N/A N/A Awaiting Review chr2:42,275,161-42,285,668 0.0 Contained ISCA-9925
LOC102723824 N/A N/A Awaiting Review chr2:42,369,575-42,397,371 Contained ISCA-40212
EML4 N/A N/A Awaiting Review chr2:42,396,478-42,559,688 0.391 607442 Contained ISCA-31907
COX7A2L N/A N/A Awaiting Review chr2:42,562,701-42,596,097 0.0 605771 Contained ISCA-17998
KCNG3 N/A N/A Awaiting Review chr2:42,669,157-42,721,237 0.041 606767 Contained ISCA-35313
VDAC1P13 N/A N/A Awaiting Review chr2:42,690,279-42,691,137 Contained ISCA-13499
RPS13P3 N/A N/A Awaiting Review chr2:42,696,930-42,697,444 Contained ISCA-7247
MTA3 N/A N/A Awaiting Review chr2:42,721,709-42,984,087 0.855 609050 Contained ISCA-30893
LOC100130921 N/A N/A Reopened chr2:42,721,784-42,722,521 Contained ISCA-12342
RNU6-137P N/A N/A Awaiting Review chr2:42,939,880-42,939,987 Contained ISCA-40327
OXER1 N/A N/A Awaiting Review chr2:42,989,639-42,991,401 0.0 Contained ISCA-23337
HAAO N/A N/A Awaiting Review chr2:42,994,229-43,019,751 0.0 604521 Contained ISCA-30325
FTOP1 N/A N/A Awaiting Review chr2:43,024,366-43,025,873 Contained ISCA-44244
TRNAI13 N/A N/A Reopened chr2:43,037,676-43,037,768 Contained ISCA-20738
LOC100128048 N/A N/A Awaiting Review chr2:43,051,868-43,054,845 Contained ISCA-2570
LINC01819 N/A N/A Awaiting Review chr2:43,254,992-43,266,682 Contained ISCA-39208
RNU6-242P N/A N/A Awaiting Review chr2:43,318,526-43,318,632 Contained ISCA-38924
LOC100506047 N/A N/A Reopened chr2:43,324,884-43,329,583 Contained ISCA-12444
ZFP36L2 N/A N/A Awaiting Review chr2:43,449,541-43,453,745 0.456 612053 Contained ISCA-9844
LINC01126 N/A N/A Awaiting Review chr2:43,454,350-43,455,994 Contained ISCA-24920
THADA N/A N/A Awaiting Review chr2:43,457,975-43,823,185 0.0 611800 Contained ISCA-23354
RNU6-958P N/A N/A Awaiting Review chr2:43,635,446-43,635,516 Contained ISCA-41751
RN7SL531P N/A N/A Awaiting Review chr2:43,719,171-43,719,452 Contained ISCA-37997
PLEKHH2 N/A N/A Awaiting Review chr2:43,864,439-43,995,126 0.0 612723 Contained ISCA-19337
C1GALT1C1L N/A N/A Awaiting Review chr2:43,902,292-43,903,461 Contained ISCA-3019
LOC100421122 N/A N/A Awaiting Review chr2:43,907,706-43,908,734 Contained ISCA-22857
RN7SKP66 N/A N/A Awaiting Review chr2:43,999,259-43,999,489 Contained ISCA-43600
DYNC2LI1 N/A N/A Awaiting Review chr2:44,001,178-44,037,149 0.0 Contained ISCA-791
ABCG5 30: Gene associated with autosomal recessive phenotype Not yet evaluated Complete chr2:44,039,611-44,065,958 0.0 605459 Contained ISCA-35806
ABCG8 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,066,103-44,105,605 0.0 611465 Contained ISCA-12332
LRPPRC 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,113,363-44,223,144 0.0 607544 Contained ISCA-25314
RNU6-1048P N/A N/A Awaiting Review chr2:44,119,831-44,119,934 Contained ISCA-42099
RN7SL455P N/A N/A Awaiting Review chr2:44,131,551-44,131,832 Contained ISCA-38013
RNU6-566P N/A N/A Awaiting Review chr2:44,381,928-44,382,034 Contained ISCA-42782
PPM1B N/A N/A Awaiting Review chr2:44,395,942-44,461,742 0.11 603770 Contained ISCA-26721
RPL12P19 N/A N/A Awaiting Review chr2:44,497,672-44,498,294 Contained ISCA-10238
SLC3A1 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,502,597-44,547,963 0.0 104614 Contained ISCA-29498
PREPL 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,544,746-44,589,001 0.0 609557 Contained ISCA-23484
CAMKMT N/A N/A Awaiting Review chr2:44,589,043-44,999,731 0.0 609559 Contained ISCA-19054
LOC100130502 N/A N/A Reopened chr2:45,148,216-45,149,606 Contained ISCA-24970
LOC100506088 N/A N/A Reopened chr2:45,156,639-45,162,790 Contained ISCA-31538
SIX3-AS1 N/A N/A Awaiting Review chr2:45,167,293-45,169,017 Contained ISCA-25324
SIX3 3 0 Complete chr2:45,169,037-45,173,216 0.349 603714 Contained ISCA-3496
LOC730043 N/A N/A Awaiting Review chr2:45,223,551-45,224,043 Contained ISCA-33505
SIX2 N/A N/A Under Primary Review chr2:45,232,324-45,236,542 0.87 604994 Contained ISCA-8172
LINC01121 N/A N/A Awaiting Review chr2:45,401,480-45,482,080 Contained ISCA-5023
SRBD1 N/A N/A Awaiting Review chr2:45,615,819-45,838,433 0.0 Contained ISCA-32356
RN7SL414P N/A N/A Awaiting Review chr2:45,796,338-45,796,631 Contained ISCA-40611
PRKCE N/A N/A Awaiting Review chr2:45,879,043-46,415,129 1.0 176975 Contained ISCA-1341
TRQ-TTG5-1 N/A N/A Awaiting Review chr2:45,937,441-45,937,513 Contained ISCA-7199
RPL26P15 N/A N/A Awaiting Review chr2:46,231,052-46,231,560 Contained ISCA-6247
RPL36AP14 N/A N/A Awaiting Review chr2:46,483,999-46,484,314 Contained ISCA-4937
EPAS1 N/A N/A Awaiting Review chr2:46,524,541-46,613,842 0.998 611783 Contained ISCA-9865
LOC101805491 N/A N/A Awaiting Review chr2:46,656,329-46,668,972 Contained ISCA-46189
RN7SL817P N/A N/A Awaiting Review chr2:46,675,363-46,675,650 Contained ISCA-39835
TMEM247 N/A N/A Awaiting Review chr2:46,706,704-46,711,564 Contained ISCA-30029
ATP6V1E2 N/A N/A Awaiting Review chr2:46,738,974-46,769,696 0.0 Contained ISCA-27940
FLJ41757 N/A N/A Reopened chr2:46,761,138-46,769,141 Contained ISCA-27387
RHOQ N/A N/A Awaiting Review chr2:46,769,867-46,811,827 0.305 605857 Contained ISCA-4461
PIGF N/A N/A Awaiting Review chr2:46,808,413-46,844,251 0.001 600153 Contained ISCA-11007
CRIPT 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:46,844,311-46,857,315 0.019 604594 Contained ISCA-5582
SOCS5 N/A N/A Awaiting Review chr2:46,926,099-46,989,927 0.41 607094 Contained ISCA-6575
LINC01118 N/A N/A Awaiting Review chr2:47,043,807-47,049,799 Contained ISCA-8360
LINC01119 N/A N/A Awaiting Review chr2:47,055,003-47,086,145 Contained ISCA-10700
MCFD2 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:47,129,009-47,168,994 0.07 613625 Contained ISCA-34733
TTC7A 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:47,143,268-47,303,275 0.0 609332 Contained ISCA-30961
C2orf61 N/A N/A Awaiting Review chr2:47,314,130-47,382,517 0.014 Contained ISCA-3163
CALM2 N/A N/A Awaiting Review chr2:47,387,221-47,404,075 0.856 114182 Contained ISCA-16127
LOC101927043 N/A N/A Awaiting Review chr2:47,419,544-47,572,213 Contained ISCA-39805
BCYRN1 N/A N/A Awaiting Review chr2:47,562,454-47,562,653 606089 Contained ISCA-30366
RN7SKP119 N/A N/A Awaiting Review chr2:47,586,673-47,586,901 Contained ISCA-46118
EPCAM 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:47,596,287-47,614,167 613244 Contained ISCA-3226
MIR559 N/A N/A Awaiting Review chr2:47,604,814-47,604,909 Contained ISCA-4898
MSH2 3 0 Complete chr2:47,630,206-47,710,367 0.868 609309 Contained ISCA-35336
KCNK12 N/A N/A Awaiting Review chr2:47,747,914-47,797,470 0.672 607366 Contained ISCA-6190
HCG2040054 N/A N/A Awaiting Review chr2:47,754,676-47,756,303 Contained ISCA-45971
RPL18AP6 N/A N/A Awaiting Review chr2:47,917,806-47,918,422 Contained ISCA-32050
LOC100289315 N/A N/A Awaiting Review chr2:47,932,607-47,933,175 Contained ISCA-36097
MSH6 3 0 Complete chr2:48,010,221-48,034,092 600678 Contained ISCA-11315
RPL36AP15 N/A N/A Awaiting Review chr2:48,024,897-48,025,275 Contained ISCA-22058
FBXO11 N/A N/A Awaiting Review chr2:48,034,059-48,132,932 1.0 607871 Contained ISCA-29469
RPS27AP7 N/A N/A Awaiting Review chr2:48,110,106-48,111,053 Contained ISCA-15720
LOC100506235 N/A N/A Reopened chr2:48,132,817-48,135,306 Contained ISCA-29026
VN1R18P N/A N/A Awaiting Review chr2:48,216,764-48,217,700 Contained ISCA-14272
RN7SKP224 N/A N/A Awaiting Review chr2:48,444,715-48,444,953 Contained ISCA-45260
FOXN2 N/A N/A Awaiting Review chr2:48,541,795-48,606,434 0.393 143089 Contained ISCA-31024
RNU4-49P N/A N/A Awaiting Review chr2:48,567,826-48,567,965 Contained ISCA-38867
PPP1R21 N/A N/A Awaiting Review chr2:48,667,908-48,742,531 0.0 Contained ISCA-28027
RNU6-282P N/A N/A Awaiting Review chr2:48,729,061-48,729,163 Contained ISCA-42346
STON1-GTF2A1L N/A N/A Awaiting Review chr2:48,757,064-49,003,656 0.0 Contained ISCA-9762
STON1 N/A N/A Awaiting Review chr2:48,757,308-48,825,654 0.0 605357 Contained ISCA-3171
GTF2A1L N/A N/A Awaiting Review chr2:48,844,919-48,906,748 0.0 605358 Contained ISCA-1320
TPT1P11 N/A N/A Awaiting Review chr2:48,859,819-48,860,609 Contained ISCA-42093
LHCGR N/A N/A Awaiting Review chr2:48,913,913-48,982,880 0.0 238320 Contained ISCA-4797
ELOBP3 N/A N/A Awaiting Review chr2:49,007,741-49,008,036 Contained ISCA-45491
CTBP2P5 N/A N/A Awaiting Review chr2:49,142,204-49,143,855 Contained ISCA-26243
FSHR N/A N/A Awaiting Review chr2:49,189,296-49,381,666 0.0 608115 Contained ISCA-24523
MIR548BA N/A N/A Awaiting Review chr2:49,286,742-49,286,797 Contained ISCA-42423
RNU6-439P N/A N/A Awaiting Review chr2:49,460,933-49,461,038 Contained ISCA-42142
RPL7P13 N/A N/A Awaiting Review chr2:50,105,750-50,106,572 Contained ISCA-9597
NRXN1 3 0 Complete chr2:50,145,643-51,259,674 1.0 600565 Contained ISCA-3442
MTCO1P42 N/A N/A Awaiting Review chr2:50,815,828-50,816,553 Contained ISCA-39583
MIR8485 N/A N/A Awaiting Review chr2:50,923,310-50,923,400 Contained ISCA-41616
LOC730100 N/A N/A Awaiting Review chr2:51,259,739-52,635,055 Contained ISCA-45651
KNOP1P3 N/A N/A Awaiting Review chr2:51,737,280-51,738,618 Contained ISCA-12586
CRYGGP N/A N/A Awaiting Review chr2:52,002,136-52,002,852 Contained ISCA-36270
LOC100131852 N/A N/A Awaiting Review chr2:52,153,770-52,154,486 Contained ISCA-28888
ZNF863P N/A N/A Awaiting Review chr2:52,303,236-52,304,578 Contained ISCA-6399
LINC01867 N/A N/A Awaiting Review chr2:52,597,786-52,617,208 Contained ISCA-44700
LOC100506300 N/A N/A Reopened chr2:52,597,786-52,617,208 Contained ISCA-30410
LOC100528063 N/A N/A Awaiting Review chr2:52,700,609-52,701,490 Contained ISCA-43613
LOC129656 N/A N/A Awaiting Review chr2:52,797,786-52,799,662 Contained ISCA-10367
FTH1P6 N/A N/A Awaiting Review chr2:52,856,881-52,857,216 Contained ISCA-40549
MIR4431 N/A N/A Awaiting Review chr2:52,929,660-52,929,753 Contained ISCA-45310
RNU6-997P N/A N/A Awaiting Review chr2:53,797,511-53,797,617 Contained ISCA-38084
ASB3 N/A N/A Awaiting Review chr2:53,897,117-54,014,146 0.248 605760 Contained ISCA-3250
GPR75-ASB3 N/A N/A Awaiting Review chr2:53,897,430-54,087,170 0.248 Contained ISCA-3422
CHAC2 N/A N/A Awaiting Review chr2:53,994,920-54,002,333 0.003 Contained ISCA-15227
ERLEC1 N/A N/A Awaiting Review chr2:54,014,068-54,045,956 0.001 611229 Contained ISCA-34057
MIR3682 N/A N/A Awaiting Review chr2:54,076,259-54,076,342 Contained ISCA-38578
GPR75 N/A N/A Awaiting Review chr2:54,080,050-54,087,170 0.003 606704 Contained ISCA-4748
PSME4 N/A N/A Awaiting Review chr2:54,091,204-54,197,977 1.0 607705 Contained ISCA-8498
LOC100506338 N/A N/A Reopened chr2:54,197,975-54,309,092 Contained ISCA-20301
ACYP2 N/A N/A Awaiting Review chr2:54,198,240-54,532,437 0.0 102595 Contained ISCA-22421
RPL21P30 N/A N/A Awaiting Review chr2:54,256,617-54,257,004 Contained ISCA-7842
HMGB1P31 N/A N/A Awaiting Review chr2:54,278,471-54,278,897 Contained ISCA-40516
RNU7-172P N/A N/A Awaiting Review chr2:54,394,081-54,394,144 Contained ISCA-44100
TSPYL6 N/A N/A Awaiting Review chr2:54,480,315-54,483,409 0.582 Contained ISCA-23193
C2orf73 N/A N/A Awaiting Review chr2:54,558,071-54,588,714 0.001 Contained ISCA-25526
SPTBN1 N/A N/A Awaiting Review chr2:54,683,454-54,898,583 1.0 182790 Contained ISCA-5627
RPL23AP32 N/A N/A Awaiting Review chr2:54,756,359-54,756,978 Contained ISCA-9806
EML6 N/A N/A Awaiting Review chr2:54,952,149-55,199,157 0.443 Overlap ISCA-12957
Location search results
Region Name Haploinsufficiency score Triplosensitivity score Curation Status Region Location (GRCh37) ExAC pLI OMIM Relationship to Submitted Location ISCA ID
2p21 region (includes PREPL and SLC3A1) 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,410,272-44,589,641 Contained ISCA-37440