Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PREX1 | Human | autism spectrum disorder | | ISS | Prex1 (Mus musculus) | 13592920 | | MouseDO | | |
|
Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PREX1 | Human | autism spectrum disorder | | ISS | Prex1 (Mus musculus) | 13592920 | | MouseDO | | |
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Upregulation of PIP3-dependent Rac exchanger 1 (P-Rex1) promotes prostate cancer metastasis. | Qin J, etal., Oncogene. 2009 Apr 23;28(16):1853-63. Epub 2009 Mar 23. |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | Rho GTPases in insulin-stimulated glucose uptake. | Satoh T Small GTPases. 2014;5:e28102. doi: 10.4161/sgtp.28102. Epub 2014 Mar 10. |
PMID:10718198 | PMID:11230166 | PMID:11549316 | PMID:11756498 | PMID:11780052 | PMID:11955434 | PMID:12123595 | PMID:12168954 | PMID:12376548 | PMID:12477932 | PMID:12787561 | PMID:14702039 |
PMID:15489334 | PMID:15545267 | PMID:16301320 | PMID:17227822 | PMID:17353931 | PMID:17565979 | PMID:17698854 | PMID:17903302 | PMID:18029348 | PMID:18602983 | PMID:18697831 | PMID:19911011 |
PMID:20018810 | PMID:20036214 | PMID:20074642 | PMID:20379614 | PMID:20650312 | PMID:21042280 | PMID:21172654 | PMID:21339740 | PMID:21441931 | PMID:21636851 | PMID:21873635 | PMID:22207728 |
PMID:22242915 | PMID:22321011 | PMID:22558309 | PMID:23033535 | PMID:23382862 | PMID:23478800 | PMID:23496005 | PMID:23899556 | PMID:25248717 | PMID:25284585 | PMID:26112412 | PMID:26621702 |
PMID:26792863 | PMID:26797121 | PMID:26923603 | PMID:27025967 | PMID:27150042 | PMID:27351228 | PMID:27358402 | PMID:27481946 | PMID:27788493 | PMID:28051998 | PMID:28162770 | PMID:28694325 |
PMID:28710285 | PMID:29507755 | PMID:29509190 | PMID:30018141 | PMID:30442662 | PMID:30446620 | PMID:30530493 | PMID:31182584 | PMID:31473760 | PMID:31527615 | PMID:31636389 | PMID:31663027 |
PMID:31871319 | PMID:32203420 | PMID:32661198 | PMID:32785873 | PMID:33061433 | PMID:33412417 | PMID:33961781 | PMID:34624316 | PMID:35575683 | PMID:35748872 | PMID:35831314 | PMID:35864164 |
PMID:35914814 | PMID:36215168 | PMID:36638890 | PMID:37434402 | PMID:37689310 | PMID:37827155 | PMID:38329813 | PMID:39082940 |
PREX1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prex1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prex1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prex1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PREX1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PREX1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prex1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PREX1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PREX1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prex1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in PREX1
151 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 | copy number gain | See cases [RCV000053035] | Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
NM_020820.3(PREX1):c.1168G>A (p.Glu390Lys) | single nucleotide variant | Malignant melanoma [RCV000072674] | Chr20:48690965 [GRCh38] Chr20:47307503 [GRCh37] Chr20:46740910 [NCBI36] Chr20:20q13.13 |
not provided |
NM_020820.3(PREX1):c.816C>T (p.Leu272=) | single nucleotide variant | Malignant melanoma [RCV000072675] | Chr20:48700854 [GRCh38] Chr20:47317392 [GRCh37] Chr20:46750799 [NCBI36] Chr20:20q13.13 |
not provided |
NM_020820.3(PREX1):c.622-2145C>A | single nucleotide variant | Lung cancer [RCV000101631] | Chr20:48710566 [GRCh38] Chr20:47327104 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.3(PREX1):c.220-35281C>T | single nucleotide variant | Lung cancer [RCV000101632] | Chr20:48783161 [GRCh38] Chr20:47399698 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.3(PREX1):c.219+39529A>T | single nucleotide variant | Lung cancer [RCV000101633] | Chr20:48788113 [GRCh38] Chr20:47404650 [GRCh37] Chr20:20q13.13 |
uncertain significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3 | copy number gain | See cases [RCV000139593] | Chr20:48756586..49532355 [GRCh38] Chr20:47373123..48148892 [GRCh37] Chr20:46806530..47582299 [NCBI36] Chr20:20q13.13 |
uncertain significance |
GRCh37/hg19 20q13.13(chr20:46874875-47442163)x1 | copy number loss | not provided [RCV000487927] | Chr20:46874875..47442163 [GRCh37] Chr20:20q13.13 |
uncertain significance |
GRCh37/hg19 20q13.13(chr20:47427610-48085774)x3 | copy number gain | See cases [RCV000510231] | Chr20:47427610..48085774 [GRCh37] Chr20:20q13.13 |
uncertain significance |
GRCh37/hg19 20q13.13(chr20:46582570-47333968)x3 | copy number gain | See cases [RCV000510415] | Chr20:46582570..47333968 [GRCh37] Chr20:20q13.13 |
uncertain significance |
GRCh37/hg19 20q13.13(chr20:46856288-47737187)x3 | copy number gain | See cases [RCV000511637] | Chr20:46856288..47737187 [GRCh37] Chr20:20q13.13 |
likely benign |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_020820.4(PREX1):c.2130C>G (p.Ile710Met) | single nucleotide variant | not specified [RCV004322851] | Chr20:48655369 [GRCh38] Chr20:47271907 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.56A>G (p.His19Arg) | single nucleotide variant | not specified [RCV004307993] | Chr20:48827805 [GRCh38] Chr20:47444342 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1532T>C (p.Met511Thr) | single nucleotide variant | not specified [RCV004309130] | Chr20:48679658 [GRCh38] Chr20:47296196 [GRCh37] Chr20:20q13.13 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
Single allele | duplication | not provided [RCV000677941] | Chr20:46962638..50647699 [GRCh37] Chr20:20q13.13-13.2 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q13.13(chr20:47177768-47262549)x3 | copy number gain | not provided [RCV000741246] | Chr20:47177768..47262549 [GRCh37] Chr20:20q13.13 |
benign |
GRCh37/hg19 20q13.13(chr20:47308798-47536334)x3 | copy number gain | not provided [RCV000741247] | Chr20:47308798..47536334 [GRCh37] Chr20:20q13.13 |
benign |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_020820.4(PREX1):c.3225C>T (p.Ile1075=) | single nucleotide variant | not provided [RCV000961213] | Chr20:48649380 [GRCh38] Chr20:47265918 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.2171G>A (p.Arg724His) | single nucleotide variant | not provided [RCV000882664] | Chr20:48655328 [GRCh38] Chr20:47271866 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.4851G>A (p.Thr1617=) | single nucleotide variant | not provided [RCV000949096] | Chr20:48627879 [GRCh38] Chr20:47244417 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.4456G>T (p.Ala1486Ser) | single nucleotide variant | not provided [RCV000883570] | Chr20:48632347 [GRCh38] Chr20:47248885 [GRCh37] Chr20:20q13.13 |
benign|likely benign |
NM_020820.4(PREX1):c.2282A>G (p.Asn761Ser) | single nucleotide variant | PREX1-related disorder [RCV003936110]|not provided [RCV000971134] | Chr20:48653425 [GRCh38] Chr20:47269963 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.4368G>A (p.Glu1456=) | single nucleotide variant | not provided [RCV000959303] | Chr20:48632539 [GRCh38] Chr20:47249077 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.1698G>A (p.Ala566=) | single nucleotide variant | not provided [RCV000954192] | Chr20:48666323 [GRCh38] Chr20:47282861 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.1229C>T (p.Ala410Val) | single nucleotide variant | not specified [RCV004289238] | Chr20:48688762 [GRCh38] Chr20:47305300 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2496G>C (p.Arg832=) | single nucleotide variant | not provided [RCV000961214] | Chr20:48651555 [GRCh38] Chr20:47268093 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.4094G>T (p.Arg1365Leu) | single nucleotide variant | not specified [RCV004328406] | Chr20:48636536 [GRCh38] Chr20:47253074 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4676G>C (p.Ser1559Thr) | single nucleotide variant | not provided [RCV001720892] | Chr20:48629539 [GRCh38] Chr20:47246077 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.4626C>T (p.Leu1542=) | single nucleotide variant | not provided [RCV001621784] | Chr20:48629589 [GRCh38] Chr20:47246127 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.4044C>T (p.Tyr1348=) | single nucleotide variant | not provided [RCV000954524] | Chr20:48636586 [GRCh38] Chr20:47253124 [GRCh37] Chr20:20q13.13 |
benign|likely benign |
NM_020820.4(PREX1):c.3972C>T (p.Asp1324=) | single nucleotide variant | not provided [RCV001172145] | Chr20:48636658 [GRCh38] Chr20:47253196 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.2275G>A (p.Val759Met) | single nucleotide variant | not specified [RCV004292804] | Chr20:48653432 [GRCh38] Chr20:47269970 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1751G>T (p.Ser584Ile) | single nucleotide variant | not specified [RCV004325361] | Chr20:48660049 [GRCh38] Chr20:47276587 [GRCh37] Chr20:20q13.13 |
uncertain significance |
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 | copy number loss | Developmental and epileptic encephalopathy, 26 [RCV001801198] | Chr20:42985044..48599046 [GRCh37] Chr20:20q13.12-13.13 |
pathogenic |
GRCh37/hg19 20q13.13(chr20:46721299-47873110)x3 | copy number gain | not provided [RCV001829055] | Chr20:46721299..47873110 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3352G>A (p.Ala1118Thr) | single nucleotide variant | not provided [RCV002034782] | Chr20:48646011 [GRCh38] Chr20:47262549 [GRCh37] Chr20:20q13.13 |
benign |
NM_020820.4(PREX1):c.4850C>T (p.Thr1617Met) | single nucleotide variant | not specified [RCV004321249] | Chr20:48627880 [GRCh38] Chr20:47244418 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2788A>G (p.Ile930Val) | single nucleotide variant | not specified [RCV004313132] | Chr20:48650923 [GRCh38] Chr20:47267461 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2191G>A (p.Val731Ile) | single nucleotide variant | not specified [RCV004660149] | Chr20:48655308 [GRCh38] Chr20:47271846 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4817A>G (p.His1606Arg) | single nucleotide variant | not specified [RCV004660150] | Chr20:48627913 [GRCh38] Chr20:47244451 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3047C>T (p.Ser1016Leu) | single nucleotide variant | not specified [RCV004189926] | Chr20:48649558 [GRCh38] Chr20:47266096 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2620G>A (p.Val874Met) | single nucleotide variant | not specified [RCV004221715] | Chr20:48651431 [GRCh38] Chr20:47267969 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3148T>C (p.Phe1050Leu) | single nucleotide variant | not specified [RCV004134202] | Chr20:48649457 [GRCh38] Chr20:47265995 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4972G>A (p.Asp1658Asn) | single nucleotide variant | not specified [RCV004149615] | Chr20:48625893 [GRCh38] Chr20:47242431 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.91A>C (p.Ser31Arg) | single nucleotide variant | not specified [RCV004106831] | Chr20:48827770 [GRCh38] Chr20:47444307 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2620G>C (p.Val874Leu) | single nucleotide variant | not specified [RCV004238366] | Chr20:48651431 [GRCh38] Chr20:47267969 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3484G>A (p.Asp1162Asn) | single nucleotide variant | not specified [RCV004118535] | Chr20:48645879 [GRCh38] Chr20:47262417 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2169T>G (p.Ile723Met) | single nucleotide variant | not specified [RCV004090184] | Chr20:48655330 [GRCh38] Chr20:47271868 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3896A>C (p.Tyr1299Ser) | single nucleotide variant | not specified [RCV004215385] | Chr20:48639774 [GRCh38] Chr20:47256312 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2264A>G (p.Asn755Ser) | single nucleotide variant | not specified [RCV004193065] | Chr20:48653443 [GRCh38] Chr20:47269981 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2734G>A (p.Val912Met) | single nucleotide variant | not specified [RCV004144840] | Chr20:48650977 [GRCh38] Chr20:47267515 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2042T>G (p.Phe681Cys) | single nucleotide variant | not specified [RCV004239569] | Chr20:48657121 [GRCh38] Chr20:47273659 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1222A>G (p.Met408Val) | single nucleotide variant | not specified [RCV004185129] | Chr20:48688769 [GRCh38] Chr20:47305307 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3184C>T (p.Arg1062Trp) | single nucleotide variant | not specified [RCV004111561] | Chr20:48649421 [GRCh38] Chr20:47265959 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4552C>G (p.Leu1518Val) | single nucleotide variant | not specified [RCV004167844] | Chr20:48630769 [GRCh38] Chr20:47247307 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1874G>A (p.Arg625His) | single nucleotide variant | not specified [RCV004086945] | Chr20:48659926 [GRCh38] Chr20:47276464 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4706C>T (p.Ser1569Leu) | single nucleotide variant | not specified [RCV004173751] | Chr20:48629509 [GRCh38] Chr20:47246047 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2468C>A (p.Ala823Asp) | single nucleotide variant | not specified [RCV004090642] | Chr20:48651583 [GRCh38] Chr20:47268121 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4842G>T (p.Met1614Ile) | single nucleotide variant | not specified [RCV004104589] | Chr20:48627888 [GRCh38] Chr20:47244426 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2095C>T (p.Arg699Cys) | single nucleotide variant | not specified [RCV004191245] | Chr20:48657068 [GRCh38] Chr20:47273606 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3592A>T (p.Met1198Leu) | single nucleotide variant | not specified [RCV004120599] | Chr20:48644418 [GRCh38] Chr20:47260956 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3057G>T (p.Gln1019His) | single nucleotide variant | not specified [RCV004174075] | Chr20:48649548 [GRCh38] Chr20:47266086 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3131G>T (p.Gly1044Val) | single nucleotide variant | not specified [RCV004089433] | Chr20:48649474 [GRCh38] Chr20:47266012 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.456T>G (p.His152Gln) | single nucleotide variant | not specified [RCV004078083] | Chr20:48734609 [GRCh38] Chr20:47351146 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2543A>T (p.Asn848Ile) | single nucleotide variant | not specified [RCV004133763] | Chr20:48651508 [GRCh38] Chr20:47268046 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4126G>A (p.Val1376Ile) | single nucleotide variant | not specified [RCV004289789] | Chr20:48636504 [GRCh38] Chr20:47253042 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2387A>C (p.Gln796Pro) | single nucleotide variant | not specified [RCV004287156] | Chr20:48652666 [GRCh38] Chr20:47269204 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2170C>T (p.Arg724Cys) | single nucleotide variant | not specified [RCV004281144] | Chr20:48655329 [GRCh38] Chr20:47271867 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4559C>T (p.Thr1520Met) | single nucleotide variant | not specified [RCV004248950] | Chr20:48630762 [GRCh38] Chr20:47247300 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2326A>G (p.Ser776Gly) | single nucleotide variant | not specified [RCV004253691] | Chr20:48653381 [GRCh38] Chr20:47269919 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2656A>G (p.Ile886Val) | single nucleotide variant | not specified [RCV004256098] | Chr20:48651055 [GRCh38] Chr20:47267593 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2606T>C (p.Val869Ala) | single nucleotide variant | not specified [RCV004277410] | Chr20:48651445 [GRCh38] Chr20:47267983 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.802A>C (p.Ile268Leu) | single nucleotide variant | not specified [RCV004275825] | Chr20:48700868 [GRCh38] Chr20:47317406 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4666G>A (p.Ala1556Thr) | single nucleotide variant | not specified [RCV004250845] | Chr20:48629549 [GRCh38] Chr20:47246087 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.22G>A (p.Glu8Lys) | single nucleotide variant | not specified [RCV004262229] | Chr20:48827839 [GRCh38] Chr20:47444376 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4178G>A (p.Arg1393Gln) | single nucleotide variant | not specified [RCV004277219] | Chr20:48634765 [GRCh38] Chr20:47251303 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4000G>T (p.Ala1334Ser) | single nucleotide variant | not specified [RCV004316330] | Chr20:48636630 [GRCh38] Chr20:47253168 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1721A>G (p.Asn574Ser) | single nucleotide variant | not specified [RCV004351656] | Chr20:48666300 [GRCh38] Chr20:47282838 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.801C>A (p.Asp267Glu) | single nucleotide variant | not specified [RCV004340262] | Chr20:48700869 [GRCh38] Chr20:47317407 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1544T>C (p.Val515Ala) | single nucleotide variant | not specified [RCV004362088] | Chr20:48679405 [GRCh38] Chr20:47295943 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4568G>T (p.Ser1523Ile) | single nucleotide variant | not specified [RCV004347606] | Chr20:48630753 [GRCh38] Chr20:47247291 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4543C>T (p.Arg1515Trp) | single nucleotide variant | not specified [RCV004348097] | Chr20:48630778 [GRCh38] Chr20:47247316 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3039C>T (p.Asn1013=) | single nucleotide variant | not provided [RCV003440430] | Chr20:48649566 [GRCh38] Chr20:47266104 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.1635G>A (p.Gly545=) | single nucleotide variant | not provided [RCV003440431] | Chr20:48676223 [GRCh38] Chr20:47292761 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.1169A>T (p.Glu390Val) | single nucleotide variant | not specified [RCV004514928] | Chr20:48690964 [GRCh38] Chr20:47307502 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2179G>A (p.Ala727Thr) | single nucleotide variant | not specified [RCV004514932] | Chr20:48655320 [GRCh38] Chr20:47271858 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2704A>G (p.Arg902Gly) | single nucleotide variant | not specified [RCV004514934] | Chr20:48651007 [GRCh38] Chr20:47267545 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.3973G>A (p.Ala1325Thr) | single nucleotide variant | not specified [RCV004514944] | Chr20:48636657 [GRCh38] Chr20:47253195 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4679T>G (p.Val1560Gly) | single nucleotide variant | not specified [RCV004514945] | Chr20:48629536 [GRCh38] Chr20:47246074 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.62A>G (p.Asp21Gly) | single nucleotide variant | not specified [RCV004514947] | Chr20:48827799 [GRCh38] Chr20:47444336 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3509A>G (p.Tyr1170Cys) | single nucleotide variant | not specified [RCV004514941] | Chr20:48645854 [GRCh38] Chr20:47262392 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3836A>G (p.Gln1279Arg) | single nucleotide variant | PREX1-related disorder [RCV003904150] | Chr20:48639834 [GRCh38] Chr20:47256372 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.3187G>A (p.Gly1063Ser) | single nucleotide variant | not specified [RCV004514938] | Chr20:48649418 [GRCh38] Chr20:47265956 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3019C>G (p.Pro1007Ala) | single nucleotide variant | not specified [RCV004514936] | Chr20:48650005 [GRCh38] Chr20:47266543 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3349G>C (p.Asp1117His) | single nucleotide variant | not specified [RCV004514939] | Chr20:48646014 [GRCh38] Chr20:47262552 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.341T>C (p.Leu114Ser) | single nucleotide variant | not specified [RCV004514940] | Chr20:48745098 [GRCh38] Chr20:47361635 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1820A>G (p.Lys607Arg) | single nucleotide variant | not specified [RCV004514930] | Chr20:48659980 [GRCh38] Chr20:47276518 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1951G>A (p.Val651Ile) | single nucleotide variant | not specified [RCV004514931] | Chr20:48658159 [GRCh38] Chr20:47274697 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3763C>T (p.His1255Tyr) | single nucleotide variant | not specified [RCV004514942] | Chr20:48642180 [GRCh38] Chr20:47258718 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.632A>G (p.Lys211Arg) | single nucleotide variant | not specified [RCV004514948] | Chr20:48708411 [GRCh38] Chr20:47324949 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.346G>T (p.Ala116Ser) | single nucleotide variant | PREX1-related disorder [RCV003967029] | Chr20:48745093 [GRCh38] Chr20:47361630 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.3289G>A (p.Val1097Ile) | single nucleotide variant | PREX1-related disorder [RCV003974687] | Chr20:48649316 [GRCh38] Chr20:47265854 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2630G>A (p.Arg877His) | single nucleotide variant | PREX1-related disorder [RCV003904346] | Chr20:48651421 [GRCh38] Chr20:47267959 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.1071C>T (p.Asn357=) | single nucleotide variant | PREX1-related disorder [RCV003954902] | Chr20:48691062 [GRCh38] Chr20:47307600 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.119C>G (p.Ala40Gly) | single nucleotide variant | not specified [RCV004514929] | Chr20:48827742 [GRCh38] Chr20:47444279 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2366A>G (p.Tyr789Cys) | single nucleotide variant | not specified [RCV004514933] | Chr20:48652687 [GRCh38] Chr20:47269225 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3185G>C (p.Arg1062Pro) | single nucleotide variant | not specified [RCV004514937] | Chr20:48649420 [GRCh38] Chr20:47265958 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3829A>G (p.Ser1277Gly) | single nucleotide variant | not specified [RCV004514943] | Chr20:48639841 [GRCh38] Chr20:47256379 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NC_000020.10:g.(?_47340117)_(47538567_?)dup | duplication | not provided [RCV004579510] | Chr20:47340117..47538567 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.436G>A (p.Glu146Lys) | single nucleotide variant | not specified [RCV004660151] | Chr20:48734629 [GRCh38] Chr20:47351166 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3954G>C (p.Glu1318Asp) | single nucleotide variant | not specified [RCV004660147] | Chr20:48636676 [GRCh38] Chr20:47253214 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1165C>T (p.Arg389Cys) | single nucleotide variant | not specified [RCV004648593] | Chr20:48690968 [GRCh38] Chr20:47307506 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2641G>A (p.Gly881Ser) | single nucleotide variant | not specified [RCV004648594] | Chr20:48651410 [GRCh38] Chr20:47267948 [GRCh37] Chr20:20q13.13 |
likely benign |
NM_020820.4(PREX1):c.1678A>G (p.Thr560Ala) | single nucleotide variant | not specified [RCV004648595] | Chr20:48666343 [GRCh38] Chr20:47282881 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4391A>G (p.His1464Arg) | single nucleotide variant | not specified [RCV004648596] | Chr20:48632516 [GRCh38] Chr20:47249054 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.3730G>A (p.Ala1244Thr) | single nucleotide variant | not specified [RCV004648597] | Chr20:48642213 [GRCh38] Chr20:47258751 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.4922C>T (p.Pro1641Leu) | single nucleotide variant | not specified [RCV004648598] | Chr20:48627563 [GRCh38] Chr20:47244101 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.1873C>T (p.Arg625Cys) | single nucleotide variant | not specified [RCV004660145] | Chr20:48659927 [GRCh38] Chr20:47276465 [GRCh37] Chr20:20q13.13 |
uncertain significance |
NM_020820.4(PREX1):c.2111C>A (p.Thr704Lys) | single nucleotide variant | not specified [RCV004660148] | Chr20:48657052 [GRCh38] Chr20:47273590 [GRCh37] Chr20:20q13.13 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D20S176 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D20S866 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
A009C21 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
WI-13364 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-3429 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-148678 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G20522 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
A005U44 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-153381 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH16260 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Z94587 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Z94620 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH47999 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Z94459 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G32415 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2433 | 2788 | 2252 | 4974 | 1724 | 2333 | 6 | 623 | 1942 | 464 | 2270 | 7291 | 6463 | 53 | 3734 | 1 | 851 | 1744 | 1600 | 174 | 1 |
RefSeq Transcripts | NM_020820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011528934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB037836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ320261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL035106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL133342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136579 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL445192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL832913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC009948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF511314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LS482411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000371941 ⟹ ENSP00000361009 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000482556 ⟹ ENSP00000434632 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000496915 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000620554 ⟹ ENSP00000481444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_020820 ⟹ NP_065871 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011528934 ⟹ XP_011527236 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047440331 ⟹ XP_047296287 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440332 ⟹ XP_047296288 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440333 ⟹ XP_047296289 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440334 ⟹ XP_047296290 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323770 ⟹ XP_054179745 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323771 ⟹ XP_054179746 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323772 ⟹ XP_054179747 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_065871 | (Get FASTA) | NCBI Sequence Viewer |
XP_011527236 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296287 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296288 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296289 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296290 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179745 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179746 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179747 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH53616 | (Get FASTA) | NCBI Sequence Viewer |
BAA92653 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66514 | (Get FASTA) | NCBI Sequence Viewer | |
CAC86401 | (Get FASTA) | NCBI Sequence Viewer | |
CAH10614 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75684 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75685 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75686 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000361009 | ||
ENSP00000361009.3 | |||
ENSP00000434632.1 | |||
ENSP00000481444.1 | |||
GenBank Protein | Q8TCU6 | (Get FASTA) | NCBI Sequence Viewer |
SPT35788 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_065871 ⟸ NM_020820 |
- UniProtKB: | Q9P2D2 (UniProtKB/Swiss-Prot), Q9H4Q6 (UniProtKB/Swiss-Prot), Q9BX55 (UniProtKB/Swiss-Prot), Q9BQH0 (UniProtKB/Swiss-Prot), Q8TCU6 (UniProtKB/Swiss-Prot), Q7Z2L9 (UniProtKB/Swiss-Prot), Q69YL2 (UniProtKB/Swiss-Prot), Q5JS96 (UniProtKB/Swiss-Prot), Q5JS95 (UniProtKB/Swiss-Prot), E1P5X9 (UniProtKB/Swiss-Prot), Q9UGQ4 (UniProtKB/Swiss-Prot), A0A2X0SFH1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011527236 ⟸ XM_011528934 |
- Peptide Label: | isoform X2 |
- Sequence: |
Ensembl Acc Id: | ENSP00000481444 ⟸ ENST00000620554 |
Ensembl Acc Id: | ENSP00000361009 ⟸ ENST00000371941 |
Ensembl Acc Id: | ENSP00000434632 ⟸ ENST00000482556 |
RefSeq Acc Id: | XP_047296289 ⟸ XM_047440333 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A2X0SFH1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296288 ⟸ XM_047440332 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A2X0SFH1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296287 ⟸ XM_047440331 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A2X0SFH1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296290 ⟸ XM_047440334 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054179745 ⟸ XM_054323770 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A2X0SFH1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179746 ⟸ XM_054323771 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054179747 ⟸ XM_054323772 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8TCU6-F1-model_v2 | AlphaFold | Q8TCU6 | 1-1659 | view protein structure |
RGD ID: | 6798964 | ||||||||
Promoter ID: | HG_KWN:39747 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000079624, UC002XTV.1 | ||||||||
Position: |
|
RGD ID: | 6798692 | ||||||||
Promoter ID: | HG_KWN:39748 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | ENST00000396223 | ||||||||
Position: |
|
RGD ID: | 6798962 | ||||||||
Promoter ID: | HG_KWN:39750 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000396220, OTTHUMT00000079623 | ||||||||
Position: |
|
RGD ID: | 13207205 | ||||||||
Promoter ID: | EPDNEW_H27183 | ||||||||
Type: | initiation region | ||||||||
Name: | PREX1_1 | ||||||||
Description: | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchangefactor 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27184 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13207207 | ||||||||
Promoter ID: | EPDNEW_H27184 | ||||||||
Type: | single initiation site | ||||||||
Name: | PREX1_2 | ||||||||
Description: | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchangefactor 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27183 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:32594 | AgrOrtholog |
COSMIC | PREX1 | COSMIC |
Ensembl Genes | ENSG00000124126 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000371941 | ENTREZGENE |
ENST00000371941.4 | UniProtKB/Swiss-Prot | |
ENST00000482556.5 | UniProtKB/TrEMBL | |
ENST00000620554.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.900.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.42.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000124126 | GTEx |
HGNC ID | HGNC:32594 | ENTREZGENE |
Human Proteome Map | PREX1 | Human Proteome Map |
InterPro | DBL_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DEP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DH-domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GDS_CDC24_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
mTOR-Rac_regulators | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOS1_NGEF_PH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH_DNA-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:57580 | UniProtKB/Swiss-Prot |
NCBI Gene | 57580 | ENTREZGENE |
OMIM | 606905 | OMIM |
PANTHER | DEP DOMAIN PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1 PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DEP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RhoGEF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SOS1_NGEF_PH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA164725018 | PharmGKB |
PROSITE | DEP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DH_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DH_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | DEP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RhoGEF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00233 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF46785 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF48065 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50156 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087WY11_HUMAN | UniProtKB/TrEMBL |
A0A2X0SFH1 | ENTREZGENE, UniProtKB/TrEMBL | |
E1P5X9 | ENTREZGENE | |
H0YDZ4_HUMAN | UniProtKB/TrEMBL | |
PREX1_HUMAN | UniProtKB/Swiss-Prot | |
Q5JS95 | ENTREZGENE | |
Q5JS96 | ENTREZGENE | |
Q69YL2 | ENTREZGENE | |
Q7Z2L9 | ENTREZGENE | |
Q8TCU6 | ENTREZGENE | |
Q9BQH0 | ENTREZGENE | |
Q9BX55 | ENTREZGENE | |
Q9H4Q6 | ENTREZGENE | |
Q9P2D2 | ENTREZGENE | |
Q9UGQ4 | ENTREZGENE | |
UniProt Secondary | E1P5X9 | UniProtKB/Swiss-Prot |
Q5JS95 | UniProtKB/Swiss-Prot | |
Q5JS96 | UniProtKB/Swiss-Prot | |
Q69YL2 | UniProtKB/Swiss-Prot | |
Q7Z2L9 | UniProtKB/Swiss-Prot | |
Q9BQH0 | UniProtKB/Swiss-Prot | |
Q9BX55 | UniProtKB/Swiss-Prot | |
Q9H4Q6 | UniProtKB/Swiss-Prot | |
Q9P2D2 | UniProtKB/Swiss-Prot | |
Q9UGQ4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2022-04-14 | PREX1 | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 | LOC105372648 | uncharacterized LOC105372648 | Data merged from RGD:38647969 | 737654 | PROVISIONAL |
2016-04-12 | PREX1 | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 | phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 | Symbol and/or name change | 5135510 | APPROVED |