Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RASAL1 | Human | kidney disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23665422 | |
|
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RASAL1 | Human | kidney disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23665422 | |
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
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 |
PMID:9751798 | PMID:11230166 | PMID:12221082 | PMID:12477932 | PMID:15489334 | PMID:15960973 | PMID:16009725 | PMID:17640920 | PMID:18992247 | PMID:20473946 | PMID:22589738 | PMID:22825043 |
PMID:22863883 | PMID:23251034 | PMID:23665422 | PMID:23999003 | PMID:24136889 | PMID:24377515 | PMID:24531877 | PMID:24712574 | PMID:24925056 | PMID:25616414 | PMID:25735335 | PMID:26008146 |
PMID:26344197 | PMID:26997440 | PMID:27012941 | PMID:27124111 | PMID:27878301 | PMID:28011578 | PMID:28885980 | PMID:33961781 | PMID:35748872 | PMID:39118077 | PMID:39358380 |
RASAL1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasal1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasal1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasal1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASAL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASAL1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasal1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASAL1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASAL1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasal1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in RASAL1
88 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001301202.2(RASAL1):c.2353C>T (p.Arg785Cys) | single nucleotide variant | not specified [RCV004219011] | Chr12:113099994 [GRCh38] Chr12:113537799 [GRCh37] Chr12:112022182 [NCBI36] Chr12:12q24.13 |
uncertain significance|not provided |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
NM_001301202.2(RASAL1):c.1807T>C (p.Phe603Leu) | single nucleotide variant | not provided [RCV000892478]|not specified [RCV000203124] | Chr12:113105737 [GRCh38] Chr12:113543542 [GRCh37] Chr12:12q24.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1 | copy number loss | See cases [RCV000143532] | Chr12:113077775..114372366 [GRCh38] Chr12:113515580..114810171 [GRCh37] Chr12:111999963..113294554 [NCBI36] Chr12:12q24.13-24.21 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12q24.13-24.21(chr12:112963559-116095198)x1 | copy number loss | See cases [RCV000446400] | Chr12:112963559..116095198 [GRCh37] Chr12:12q24.13-24.21 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_001301202.2(RASAL1):c.115G>A (p.Val39Met) | single nucleotide variant | not specified [RCV004317590] | Chr12:113130892 [GRCh38] Chr12:113568697 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1744G>A (p.Gly582Ser) | single nucleotide variant | not specified [RCV004315843] | Chr12:113105800 [GRCh38] Chr12:113543605 [GRCh37] Chr12:12q24.13 |
likely benign |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q24.13(chr12:113466061-113596866)x3 | copy number gain | not provided [RCV000738060] | Chr12:113466061..113596866 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.1375-9T>G | single nucleotide variant | not provided [RCV000994987] | Chr12:113108231 [GRCh38] Chr12:113546036 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1293G>A (p.Gly431=) | single nucleotide variant | not provided [RCV000994990] | Chr12:113112167 [GRCh38] Chr12:113549972 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.106G>A (p.Asp36Asn) | single nucleotide variant | not provided [RCV000994991] | Chr12:113130901 [GRCh38] Chr12:113568706 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.65T>C (p.Val22Ala) | single nucleotide variant | not provided [RCV000994992] | Chr12:113135398 [GRCh38] Chr12:113573203 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1495C>T (p.Leu499=) | single nucleotide variant | not provided [RCV000926625] | Chr12:113108102 [GRCh38] Chr12:113545907 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.1092C>T (p.His364=) | single nucleotide variant | not provided [RCV000884006] | Chr12:113114889 [GRCh38] Chr12:113552694 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.278C>T (p.Ala93Val) | single nucleotide variant | not provided [RCV000971121] | Chr12:113127832 [GRCh38] Chr12:113565637 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.717C>T (p.Ala239=) | single nucleotide variant | not provided [RCV000919889] | Chr12:113117087 [GRCh38] Chr12:113554892 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.240C>T (p.His80=) | single nucleotide variant | not provided [RCV000959346] | Chr12:113127870 [GRCh38] Chr12:113565675 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.521A>G (p.Lys174Arg) | single nucleotide variant | not specified [RCV004317114] | Chr12:113119249 [GRCh38] Chr12:113557054 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1631G>A (p.Arg544Gln) | single nucleotide variant | not specified [RCV004294013] | Chr12:113107123 [GRCh38] Chr12:113544928 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.1387C>T (p.Leu463=) | single nucleotide variant | not provided [RCV000914327] | Chr12:113108210 [GRCh38] Chr12:113546015 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.342A>G (p.Ala114=) | single nucleotide variant | not provided [RCV000914328] | Chr12:113121595 [GRCh38] Chr12:113559400 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.1356C>T (p.Phe452=) | single nucleotide variant | not provided [RCV000994988] | Chr12:113112104 [GRCh38] Chr12:113549909 [GRCh37] Chr12:12q24.13 |
benign|likely benign |
NM_001301202.2(RASAL1):c.1294C>G (p.Arg432Gly) | single nucleotide variant | not specified [RCV004092711] | Chr12:113112166 [GRCh38] Chr12:113549971 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.-64C>T | single nucleotide variant | not provided [RCV000986162] | Chr12:113135526 [GRCh38] Chr12:113573331 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.998G>A (p.Arg333Gln) | single nucleotide variant | not specified [RCV004326460] | Chr12:113115640 [GRCh38] Chr12:113553445 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2069C>T (p.Ala690Val) | single nucleotide variant | not specified [RCV004300561] | Chr12:113103981 [GRCh38] Chr12:113541786 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2106C>T (p.Ala702=) | single nucleotide variant | not provided [RCV000886614] | Chr12:113102008 [GRCh38] Chr12:113539813 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.2393C>T (p.Ala798Val) | single nucleotide variant | not provided [RCV000919888] | Chr12:113099954 [GRCh38] Chr12:113537759 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.2225+7G>A | single nucleotide variant | not provided [RCV000886899] | Chr12:113101882 [GRCh38] Chr12:113539687 [GRCh37] Chr12:12q24.13 |
likely benign |
GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860) | copy number loss | not specified [RCV002053019] | Chr12:113445811..114933860 [GRCh37] Chr12:12q24.13-24.21 |
pathogenic |
NC_000012.11:g.113120652_115362584del | deletion | Abnormality of the upper limb [RCV001844324] | Chr12:113120652..115362584 [GRCh37] Chr12:12q24.13-24.21 |
pathogenic |
NM_001301202.2(RASAL1):c.982C>T (p.Arg328Trp) | single nucleotide variant | not specified [RCV002246766] | Chr12:113115656 [GRCh38] Chr12:113553461 [GRCh37] Chr12:12q24.13 |
benign |
NM_001301202.2(RASAL1):c.2212C>T (p.Arg738Trp) | single nucleotide variant | not specified [RCV004301240] | Chr12:113101902 [GRCh38] Chr12:113539707 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1912dup (p.Gln638fs) | duplication | not provided [RCV002275989] | Chr12:113104216..113104217 [GRCh38] Chr12:113542021..113542022 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.983G>A (p.Arg328Gln) | single nucleotide variant | not specified [RCV004186084] | Chr12:113115655 [GRCh38] Chr12:113553460 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1738C>A (p.Pro580Thr) | single nucleotide variant | not specified [RCV004235527] | Chr12:113105806 [GRCh38] Chr12:113543611 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1367A>C (p.Glu456Ala) | single nucleotide variant | not specified [RCV004204055] | Chr12:113112093 [GRCh38] Chr12:113549898 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1301C>T (p.Pro434Leu) | single nucleotide variant | not specified [RCV004095117] | Chr12:113112159 [GRCh38] Chr12:113549964 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.214G>T (p.Val72Leu) | single nucleotide variant | not specified [RCV004175200] | Chr12:113128087 [GRCh38] Chr12:113565892 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.934C>A (p.Leu312Ile) | single nucleotide variant | not specified [RCV004092058] | Chr12:113115704 [GRCh38] Chr12:113553509 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.733G>C (p.Gly245Arg) | single nucleotide variant | not specified [RCV004142627] | Chr12:113116050 [GRCh38] Chr12:113553855 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.2107G>A (p.Ala703Thr) | single nucleotide variant | not specified [RCV004191008] | Chr12:113102007 [GRCh38] Chr12:113539812 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.947G>A (p.Arg316Gln) | single nucleotide variant | not specified [RCV004130199] | Chr12:113115691 [GRCh38] Chr12:113553496 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.1792G>A (p.Gly598Arg) | single nucleotide variant | not specified [RCV004235837] | Chr12:113105752 [GRCh38] Chr12:113543557 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1901C>T (p.Pro634Leu) | single nucleotide variant | not specified [RCV004114119] | Chr12:113104228 [GRCh38] Chr12:113542033 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.913C>T (p.Leu305Phe) | single nucleotide variant | not specified [RCV004171168] | Chr12:113115725 [GRCh38] Chr12:113553530 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2090A>G (p.Gln697Arg) | single nucleotide variant | not specified [RCV004197456] | Chr12:113103960 [GRCh38] Chr12:113541765 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.871G>A (p.Ala291Thr) | single nucleotide variant | not specified [RCV004170123] | Chr12:113115767 [GRCh38] Chr12:113553572 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1306G>A (p.Ala436Thr) | single nucleotide variant | not specified [RCV004081517] | Chr12:113112154 [GRCh38] Chr12:113549959 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2288C>T (p.Pro763Leu) | single nucleotide variant | not specified [RCV004126888] | Chr12:113100059 [GRCh38] Chr12:113537864 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1470C>G (p.His490Gln) | single nucleotide variant | not specified [RCV004153050] | Chr12:113108127 [GRCh38] Chr12:113545932 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1810T>A (p.Ser604Thr) | single nucleotide variant | not specified [RCV004204332] | Chr12:113105734 [GRCh38] Chr12:113543539 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.694C>T (p.Arg232Cys) | single nucleotide variant | not specified [RCV004195658] | Chr12:113117110 [GRCh38] Chr12:113554915 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.718G>C (p.Glu240Gln) | single nucleotide variant | not specified [RCV004138605] | Chr12:113117086 [GRCh38] Chr12:113554891 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.721G>A (p.Glu241Lys) | single nucleotide variant | not specified [RCV004183587] | Chr12:113117083 [GRCh38] Chr12:113554888 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1357C>G (p.Pro453Ala) | single nucleotide variant | not specified [RCV004120981] | Chr12:113112103 [GRCh38] Chr12:113549908 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2002T>G (p.Leu668Val) | single nucleotide variant | not specified [RCV004174713] | Chr12:113104048 [GRCh38] Chr12:113541853 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2204T>C (p.Leu735Pro) | single nucleotide variant | not specified [RCV004170316] | Chr12:113101910 [GRCh38] Chr12:113539715 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.407G>A (p.Arg136His) | single nucleotide variant | not specified [RCV004152728] | Chr12:113121530 [GRCh38] Chr12:113559335 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2045G>C (p.Cys682Ser) | single nucleotide variant | not specified [RCV004122109] | Chr12:113104005 [GRCh38] Chr12:113541810 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.47C>G (p.Ala16Gly) | single nucleotide variant | not specified [RCV004239317] | Chr12:113135416 [GRCh38] Chr12:113573221 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.506C>A (p.Thr169Asn) | single nucleotide variant | not specified [RCV004193566] | Chr12:113119366 [GRCh38] Chr12:113557171 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2212C>G (p.Arg738Gly) | single nucleotide variant | not specified [RCV004172037] | Chr12:113101902 [GRCh38] Chr12:113539707 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.934C>G (p.Leu312Val) | single nucleotide variant | not specified [RCV004147296] | Chr12:113115704 [GRCh38] Chr12:113553509 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2323C>T (p.Arg775Cys) | single nucleotide variant | not specified [RCV004089704] | Chr12:113100024 [GRCh38] Chr12:113537829 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1631G>C (p.Arg544Pro) | single nucleotide variant | not specified [RCV004314117] | Chr12:113107123 [GRCh38] Chr12:113544928 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2110G>C (p.Gly704Arg) | single nucleotide variant | not specified [RCV004274961] | Chr12:113102004 [GRCh38] Chr12:113539809 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.944G>T (p.Gly315Val) | single nucleotide variant | not specified [RCV004329218] | Chr12:113115694 [GRCh38] Chr12:113553499 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1480C>G (p.Gln494Glu) | single nucleotide variant | not specified [RCV004365684] | Chr12:113108117 [GRCh38] Chr12:113545922 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1650G>A (p.Gly550=) | single nucleotide variant | not provided [RCV003392042] | Chr12:113107104 [GRCh38] Chr12:113544909 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.534G>A (p.Pro178=) | single nucleotide variant | not provided [RCV003392043] | Chr12:113119236 [GRCh38] Chr12:113557041 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His) | single nucleotide variant | Hereditary cancer [RCV003492892] | Chr12:113105769 [GRCh38] Chr12:113543574 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.1052T>C (p.Met351Thr) | single nucleotide variant | not specified [RCV004438581] | Chr12:113115216 [GRCh38] Chr12:113553021 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1459C>T (p.Arg487Trp) | single nucleotide variant | not specified [RCV004438583] | Chr12:113108138 [GRCh38] Chr12:113545943 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.487G>A (p.Gly163Ser) | single nucleotide variant | not specified [RCV004438592] | Chr12:113119385 [GRCh38] Chr12:113557190 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.504G>T (p.Glu168Asp) | single nucleotide variant | not specified [RCV004438593] | Chr12:113119368 [GRCh38] Chr12:113557173 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.961C>A (p.Arg321Ser) | single nucleotide variant | not specified [RCV004438597] | Chr12:113115677 [GRCh38] Chr12:113553482 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.985C>T (p.Arg329Cys) | single nucleotide variant | not specified [RCV004438598] | Chr12:113115653 [GRCh38] Chr12:113553458 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2213G>A (p.Arg738Gln) | single nucleotide variant | not specified [RCV004438589] | Chr12:113101901 [GRCh38] Chr12:113539706 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.247A>G (p.Ile83Val) | single nucleotide variant | not specified [RCV004438590] | Chr12:113127863 [GRCh38] Chr12:113565668 [GRCh37] Chr12:12q24.13 |
likely benign |
NM_001301202.2(RASAL1):c.671A>G (p.Gln224Arg) | single nucleotide variant | not specified [RCV004438596] | Chr12:113117133 [GRCh38] Chr12:113554938 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1447C>G (p.Leu483Val) | single nucleotide variant | not specified [RCV004438582] | Chr12:113108150 [GRCh38] Chr12:113545955 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1877T>C (p.Val626Ala) | single nucleotide variant | not specified [RCV004438585] | Chr12:113104252 [GRCh38] Chr12:113542057 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.200A>G (p.Gln67Arg) | single nucleotide variant | not specified [RCV004438586] | Chr12:113128101 [GRCh38] Chr12:113565906 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.476G>A (p.Arg159His) | single nucleotide variant | not specified [RCV004438591] | Chr12:113119396 [GRCh38] Chr12:113557201 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.60G>C (p.Lys20Asn) | single nucleotide variant | not specified [RCV004438595] | Chr12:113135403 [GRCh38] Chr12:113573208 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1609C>T (p.Arg537Cys) | single nucleotide variant | not specified [RCV004438584] | Chr12:113107145 [GRCh38] Chr12:113544950 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2123C>T (p.Thr708Ile) | single nucleotide variant | not specified [RCV004438588] | Chr12:113101991 [GRCh38] Chr12:113539796 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.560G>A (p.Arg187Gln) | single nucleotide variant | not specified [RCV004438594] | Chr12:113119210 [GRCh38] Chr12:113557015 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1223G>T (p.Arg408Leu) | single nucleotide variant | not specified [RCV004660559] | Chr12:113112237 [GRCh38] Chr12:113550042 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1174C>T (p.Arg392Cys) | single nucleotide variant | not specified [RCV004660560] | Chr12:113114807 [GRCh38] Chr12:113552612 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1726C>T (p.Arg576Cys) | single nucleotide variant | not specified [RCV004669616] | Chr12:113105818 [GRCh38] Chr12:113543623 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.1952C>T (p.Thr651Ile) | single nucleotide variant | not specified [RCV004660561] | Chr12:113104177 [GRCh38] Chr12:113541982 [GRCh37] Chr12:12q24.13 |
uncertain significance |
NM_001301202.2(RASAL1):c.2036T>C (p.Leu679Pro) | single nucleotide variant | not specified [RCV004660557] | Chr12:113104014 [GRCh38] Chr12:113541819 [GRCh37] Chr12:12q24.13 |
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 |
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
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1114 | 2288 | 2434 | 1832 | 4896 | 1675 | 2259 | 4 | 580 | 1823 | 423 | 2196 | 6403 | 5766 | 28 | 3685 | 832 | 1675 | 1570 | 171 |
RefSeq Transcripts | NG_047089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001193520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001301202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001394089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_004658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005253950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011538852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011538853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011538854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017020028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017020029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017020030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017020031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047429679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373493 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054373496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002957386 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007063139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008488702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB208935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC089999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF086713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC093724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC143258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC143261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC143262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000261729 ⟹ ENSP00000261729 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000418411 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000446861 ⟹ ENSP00000395920 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000546530 ⟹ ENSP00000450244 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000546727 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547810 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548055 ⟹ ENSP00000448510 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548972 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000549444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551051 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001193520 ⟹ NP_001180449 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193521 ⟹ NP_001180450 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001301202 ⟹ NP_001288131 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394081 ⟹ NP_001381010 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394082 ⟹ NP_001381011 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394083 ⟹ NP_001381012 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394084 ⟹ NP_001381013 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394085 ⟹ NP_001381014 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394086 ⟹ NP_001381015 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394087 ⟹ NP_001381016 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394088 ⟹ NP_001381017 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001394089 ⟹ NP_001381018 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_004658 ⟹ NP_004649 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005253950 ⟹ XP_005254007 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006719641 ⟹ XP_006719704 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006719642 ⟹ XP_006719705 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011538854 ⟹ XP_011537156 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047429676 ⟹ XP_047285632 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429677 ⟹ XP_047285633 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429678 ⟹ XP_047285634 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047429679 ⟹ XP_047285635 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373489 ⟹ XP_054229464 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373490 ⟹ XP_054229465 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373491 ⟹ XP_054229466 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373492 ⟹ XP_054229467 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373493 ⟹ XP_054229468 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373494 ⟹ XP_054229469 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373495 ⟹ XP_054229470 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054373496 ⟹ XP_054229471 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007063139 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008488702 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001180449 | (Get FASTA) | NCBI Sequence Viewer |
NP_001180450 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001288131 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381010 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381011 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381012 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381013 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381014 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381015 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381016 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381017 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001381018 | (Get FASTA) | NCBI Sequence Viewer | |
NP_004649 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005254007 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719704 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719705 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011537156 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285632 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285633 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285634 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047285635 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229464 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229465 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229466 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229467 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229468 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229469 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229470 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054229471 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD09006 | (Get FASTA) | NCBI Sequence Viewer |
AAH14420 | (Get FASTA) | NCBI Sequence Viewer | |
AAH93724 | (Get FASTA) | NCBI Sequence Viewer | |
AAI43262 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92172 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57617 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66607 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98031 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98032 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98033 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98034 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98035 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98036 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98037 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000261729 | ||
ENSP00000261729.5 | |||
ENSP00000395920 | |||
ENSP00000395920.3 | |||
ENSP00000448510 | |||
ENSP00000448510.1 | |||
ENSP00000450244 | |||
ENSP00000450244.1 | |||
GenBank Protein | O95294 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001180449 ⟸ NM_001193520 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_004649 ⟸ NM_004658 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q59H24 (UniProtKB/Swiss-Prot), Q52M03 (UniProtKB/Swiss-Prot), F8VQX1 (UniProtKB/Swiss-Prot), C9JFK5 (UniProtKB/Swiss-Prot), B7ZKM4 (UniProtKB/Swiss-Prot), Q96CC7 (UniProtKB/Swiss-Prot), O95294 (UniProtKB/Swiss-Prot), B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001180450 ⟸ NM_001193521 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005254007 ⟸ XM_005253950 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006719704 ⟸ XM_006719641 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006719705 ⟸ XM_006719642 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001288131 ⟸ NM_001301202 |
- Peptide Label: | isoform 4 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011537156 ⟸ XM_011538854 |
- Peptide Label: | isoform X6 |
- Sequence: |
Ensembl Acc Id: | ENSP00000450244 ⟸ ENST00000546530 |
Ensembl Acc Id: | ENSP00000448510 ⟸ ENST00000548055 |
Ensembl Acc Id: | ENSP00000395920 ⟸ ENST00000446861 |
Ensembl Acc Id: | ENSP00000261729 ⟸ ENST00000261729 |
RefSeq Acc Id: | NP_001381011 ⟸ NM_001394082 |
- Peptide Label: | isoform 4 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381012 ⟸ NM_001394083 |
- Peptide Label: | isoform 4 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381013 ⟸ NM_001394084 |
- Peptide Label: | isoform 4 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381018 ⟸ NM_001394089 |
- Peptide Label: | isoform 8 |
RefSeq Acc Id: | NP_001381017 ⟸ NM_001394088 |
- Peptide Label: | isoform 7 |
RefSeq Acc Id: | NP_001381016 ⟸ NM_001394087 |
- Peptide Label: | isoform 6 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381014 ⟸ NM_001394085 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q59H24 (UniProtKB/Swiss-Prot), Q52M03 (UniProtKB/Swiss-Prot), O95294 (UniProtKB/Swiss-Prot), F8VQX1 (UniProtKB/Swiss-Prot), C9JFK5 (UniProtKB/Swiss-Prot), B7ZKM4 (UniProtKB/Swiss-Prot), Q96CC7 (UniProtKB/Swiss-Prot), B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381015 ⟸ NM_001394086 |
- Peptide Label: | isoform 5 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381010 ⟸ NM_001394081 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047285632 ⟸ XM_047429676 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047285633 ⟸ XM_047429677 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047285635 ⟸ XM_047429679 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047285634 ⟸ XM_047429678 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229466 ⟸ XM_054373491 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229464 ⟸ XM_054373489 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229465 ⟸ XM_054373490 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229467 ⟸ XM_054373492 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229468 ⟸ XM_054373493 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229471 ⟸ XM_054373496 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054229470 ⟸ XM_054373495 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054229469 ⟸ XM_054373494 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B4DG06 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O95294-F1-model_v2 | AlphaFold | O95294 | 1-804 | view protein structure |
RGD ID: | 6810386 | ||||||||
Promoter ID: | HG_ACW:19002 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour | ||||||||
Transcripts: | RASAL1.EAPR07 | ||||||||
Position: |
|
RGD ID: | 6790427 | ||||||||
Promoter ID: | HG_KWN:16728 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell | ||||||||
Transcripts: | NM_004658, UC001TUL.2, UC001TUN.1, UC001TUO.2 | ||||||||
Position: |
|
RGD ID: | 7225477 | ||||||||
Promoter ID: | EPDNEW_H18484 | ||||||||
Type: | initiation region | ||||||||
Name: | RASAL1_1 | ||||||||
Description: | RAS protein activator like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18485 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7225479 | ||||||||
Promoter ID: | EPDNEW_H18485 | ||||||||
Type: | initiation region | ||||||||
Name: | RASAL1_2 | ||||||||
Description: | RAS protein activator like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18484 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9873 | AgrOrtholog |
COSMIC | RASAL1 | COSMIC |
Ensembl Genes | ENSG00000111344 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000261729 | ENTREZGENE |
ENST00000261729.9 | UniProtKB/Swiss-Prot | |
ENST00000418411 | ENTREZGENE | |
ENST00000446861 | ENTREZGENE | |
ENST00000446861.7 | UniProtKB/Swiss-Prot | |
ENST00000546530 | ENTREZGENE | |
ENST00000546530.5 | UniProtKB/Swiss-Prot | |
ENST00000548055 | ENTREZGENE | |
ENST00000548055.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.60.40.150 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000111344 | GTEx |
HGNC ID | HGNC:9873 | ENTREZGENE |
Human Proteome Map | RASAL1 | Human Proteome Map |
InterPro | C2_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
C2_domain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ras_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RASAL_RasGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RasGAP_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RasGAP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rho_GTPase_activation_prot | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_Btk_motif | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:8437 | UniProtKB/Swiss-Prot |
NCBI Gene | 8437 | ENTREZGENE |
OMIM | 604118 | OMIM |
PANTHER | PTHR10194 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10194:SF3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BTK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PF00168 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PF00169 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RasGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA34234 | PharmGKB |
PROSITE | PH_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PS50004 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS_GTPASE_ACTIV_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS_GTPASE_ACTIV_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_BTK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | BTK | UniProtKB/Swiss-Prot |
RasGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00233 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00239 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48350 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF49562 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | B4DG06 | ENTREZGENE, UniProtKB/TrEMBL |
B7ZKM4 | ENTREZGENE | |
C9JFK5 | ENTREZGENE | |
F8VQX1 | ENTREZGENE | |
O95294 | ENTREZGENE | |
Q52M03 | ENTREZGENE | |
Q59H24 | ENTREZGENE | |
Q96CC7 | ENTREZGENE | |
RASL1_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B7ZKM4 | UniProtKB/Swiss-Prot |
C9JFK5 | UniProtKB/Swiss-Prot | |
F8VQX1 | UniProtKB/Swiss-Prot | |
Q52M03 | UniProtKB/Swiss-Prot | |
Q59H24 | UniProtKB/Swiss-Prot | |
Q96CC7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-03-14 | RASAL1 | RAS protein activator like 1 | RAS protein activator like 1 (GAP1 like) | Symbol and/or name change | 5135510 | APPROVED |