Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | KIF12 | Human | Progressive Familial Intrahepatic Cholestasis 8 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | KIF12 | Human | Progressive Familial Intrahepatic Cholestasis 8 | | IAGP | | 7240710 | | OMIM | | |
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# | 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:9275178 | PMID:12477932 | PMID:15164053 | PMID:15489334 | PMID:15643526 | PMID:19056867 | PMID:20237496 | PMID:21082674 | PMID:21873635 | PMID:22889924 | PMID:23376485 | PMID:24623722 |
PMID:26186194 | PMID:27503909 | PMID:28514442 | PMID:34555379 | PMID:35156780 | PMID:36108118 | PMID:36830709 | PMID:37866826 |
KIF12 (Homo sapiens - human) |
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Kif12 (Mus musculus - house mouse) |
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Kif12 (Rattus norvegicus - Norway rat) |
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Kif12 (Chinchilla lanigera - long-tailed chinchilla) |
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KIF12 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KIF12 (Canis lupus familiaris - dog) |
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Kif12 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KIF12 (Sus scrofa - pig) |
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KIF12 (Chlorocebus sabaeus - green monkey) |
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Kif12 (Heterocephalus glaber - naked mole-rat) |
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Variants in KIF12
78 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 | copy number loss | See cases [RCV000050315] | Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 | copy number loss | See cases [RCV000052921] | Chr9:99349916..115767475 [GRCh38] Chr9:102112198..118529754 [GRCh37] Chr9:101152019..117569575 [NCBI36] Chr9:9q22.33-33.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001388308.1(KIF12):c.1698-4C>A | single nucleotide variant | Malignant tumor of prostate [RCV000149339] | Chr9:114092455 [GRCh38] Chr9:116854735 [GRCh37] Chr9:9q32 |
uncertain significance |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 | copy number loss | See cases [RCV000140794] | Chr9:107530314..117965944 [GRCh38] Chr9:110292595..120728222 [GRCh37] Chr9:109332416..119768043 [NCBI36] Chr9:9q31.2-33.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 | copy number loss | See cases [RCV000148264] | Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 | copy number loss | See cases [RCV000449308] | Chr9:111348809..118687200 [GRCh37] Chr9:9q31.3-33.1 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | not specified [RCV003986800] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q32(chr9:116822389-116859863)x3 | copy number gain | See cases [RCV000446224] | Chr9:116822389..116859863 [GRCh37] Chr9:9q32 |
benign |
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 | copy number loss | See cases [RCV000447763] | Chr9:104604851..126253089 [GRCh37] Chr9:9q31.1-33.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 | copy number loss | See cases [RCV000511049] | Chr9:114299780..123267736 [GRCh37] Chr9:9q31.3-33.2 |
pathogenic |
NM_001388308.1(KIF12):c.1454C>T (p.Pro485Leu) | single nucleotide variant | Inborn genetic diseases [RCV003259276] | Chr9:114093444 [GRCh38] Chr9:116855724 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.644C>G (p.Thr215Arg) | single nucleotide variant | Inborn genetic diseases [RCV003293029] | Chr9:114097303 [GRCh38] Chr9:116859583 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.935A>G (p.Gln312Arg) | single nucleotide variant | Inborn genetic diseases [RCV003300755] | Chr9:114095293 [GRCh38] Chr9:116857573 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.952C>G (p.Arg318Gly) | single nucleotide variant | Inborn genetic diseases [RCV003280770] | Chr9:114095276 [GRCh38] Chr9:116857556 [GRCh37] Chr9:9q32 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 | copy number loss | not provided [RCV000748606] | Chr9:113083182..126779494 [GRCh37] Chr9:9q31.3-33.3 |
pathogenic |
GRCh37/hg19 9q32(chr9:116813039-116867054)x3 | copy number gain | not provided [RCV000748631] | Chr9:116813039..116867054 [GRCh37] Chr9:9q32 |
benign |
GRCh37/hg19 9q32(chr9:116816780-116870232)x3 | copy number gain | not provided [RCV000748632] | Chr9:116816780..116870232 [GRCh37] Chr9:9q32 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001388308.1(KIF12):c.1402C>T (p.Arg468Cys) | single nucleotide variant | not provided [RCV000959078] | Chr9:114093496 [GRCh38] Chr9:116855776 [GRCh37] Chr9:9q32 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001388308.1(KIF12):c.1211T>C (p.Met404Thr) | single nucleotide variant | not provided [RCV000959079] | Chr9:114094364 [GRCh38] Chr9:116856644 [GRCh37] Chr9:9q32 |
benign |
GRCh37/hg19 9q32(chr9:116642144-117613527)x1 | copy number loss | not provided [RCV001006255] | Chr9:116642144..117613527 [GRCh37] Chr9:9q32 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 | copy number loss | not provided [RCV000847543] | Chr9:113982711..117443628 [GRCh37] Chr9:9q31.3-32 |
uncertain significance |
NM_001388308.1(KIF12):c.1392A>G (p.Ala464=) | single nucleotide variant | not provided [RCV000956739] | Chr9:114093894 [GRCh38] Chr9:116856174 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter) | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV001795884] | Chr9:114095073 [GRCh38] Chr9:116857353 [GRCh37] Chr9:9q32 |
pathogenic |
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV001795885]|not provided [RCV002292667] | Chr9:114095118 [GRCh38] Chr9:116857398 [GRCh37] Chr9:9q32 |
pathogenic|likely pathogenic |
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter) | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV001795886] | Chr9:114096069 [GRCh38] Chr9:116858349 [GRCh37] Chr9:9q32 |
pathogenic |
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln) | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV001795887] | Chr9:114095072 [GRCh38] Chr9:116857352 [GRCh37] Chr9:9q32 |
pathogenic|uncertain significance |
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) | copy number gain | not specified [RCV002053853] | Chr9:71349994..122603410 [GRCh37] Chr9:9q21.11-33.2 |
likely pathogenic |
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) | copy number loss | not specified [RCV002052825] | Chr9:104604851..126253089 [GRCh37] Chr9:9q31.1-33.3 |
pathogenic |
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) | copy number gain | not specified [RCV002052831] | Chr9:116422275..131713233 [GRCh37] Chr9:9q32-34.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) | copy number gain | not specified [RCV002053823] | Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) | copy number loss | not specified [RCV002052828] | Chr9:109265628..117650999 [GRCh37] Chr9:9q31.2-32 |
likely pathogenic |
GRCh37/hg19 9q32-33.1(chr9:116506015-119942279) | copy number loss | not specified [RCV002052832] | Chr9:116506015..119942279 [GRCh37] Chr9:9q32-33.1 |
uncertain significance |
NC_000009.11:g.(?_116037910)_(116993432_?)dup | duplication | not provided [RCV003123074] | Chr9:116037910..116993432 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1596G>A (p.Gln532=) | single nucleotide variant | not provided [RCV003149172] | Chr9:114093229 [GRCh38] Chr9:116855509 [GRCh37] Chr9:9q32 |
uncertain significance |
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) | copy number loss | Distal tetrasomy 15q [RCV002280776] | Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 | copy number gain | See cases [RCV002292402] | Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11 |
pathogenic |
NM_001388308.1(KIF12):c.430del (p.Ala144fs) | deletion | Cholestasis, progressive familial intrahepatic, 8 [RCV002283673] | Chr9:114097687 [GRCh38] Chr9:116859967 [GRCh37] Chr9:9q32 |
likely pathogenic |
NM_001388308.1(KIF12):c.1561T>G (p.Trp521Gly) | single nucleotide variant | Inborn genetic diseases [RCV002990993] | Chr9:114093264 [GRCh38] Chr9:116855544 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.998G>A (p.Arg333His) | single nucleotide variant | not provided [RCV002309007] | Chr9:114095230 [GRCh38] Chr9:116857510 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.896-14C>A | single nucleotide variant | not provided [RCV002776009] | Chr9:114095346 [GRCh38] Chr9:116857626 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1665C>T (p.Cys555=) | single nucleotide variant | not provided [RCV002902929] | Chr9:114092574 [GRCh38] Chr9:116854854 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1802C>T (p.Ser601Leu) | single nucleotide variant | Inborn genetic diseases [RCV002749831] | Chr9:114092347 [GRCh38] Chr9:116854627 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.728G>C (p.Ser243Thr) | single nucleotide variant | Inborn genetic diseases [RCV002836619] | Chr9:114096397 [GRCh38] Chr9:116858677 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1683G>A (p.Lys561=) | single nucleotide variant | not provided [RCV002974826] | Chr9:114092556 [GRCh38] Chr9:116854836 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1090C>T (p.Arg364Trp) | single nucleotide variant | Inborn genetic diseases [RCV002752072] | Chr9:114095052 [GRCh38] Chr9:116857332 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1886G>A (p.Arg629Gln) | single nucleotide variant | Inborn genetic diseases [RCV002990964] | Chr9:114091931 [GRCh38] Chr9:116854211 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1825G>A (p.Gly609Arg) | single nucleotide variant | not provided [RCV002994390] | Chr9:114091992 [GRCh38] Chr9:116854272 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1223-8C>T | single nucleotide variant | not provided [RCV002967468] | Chr9:114094279 [GRCh38] Chr9:116856559 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1014+11G>A | single nucleotide variant | not provided [RCV002776008] | Chr9:114095203 [GRCh38] Chr9:116857483 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1343G>A (p.Arg448Gln) | single nucleotide variant | Inborn genetic diseases [RCV002993057] | Chr9:114093943 [GRCh38] Chr9:116856223 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.953G>A (p.Arg318Gln) | single nucleotide variant | Inborn genetic diseases [RCV002754607] | Chr9:114095275 [GRCh38] Chr9:116857555 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1711T>A (p.Trp571Arg) | single nucleotide variant | Inborn genetic diseases [RCV002950495] | Chr9:114092438 [GRCh38] Chr9:116854718 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1914T>C (p.Ser638=) | single nucleotide variant | not provided [RCV002885783] | Chr9:114091903 [GRCh38] Chr9:116854183 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1293G>T (p.Met431Ile) | single nucleotide variant | not provided [RCV002843918] | Chr9:114094201 [GRCh38] Chr9:116856481 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.438G>A (p.Leu146=) | single nucleotide variant | not provided [RCV002948499] | Chr9:114097679 [GRCh38] Chr9:116859959 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1895G>A (p.Arg632His) | single nucleotide variant | Inborn genetic diseases [RCV002661285] | Chr9:114091922 [GRCh38] Chr9:116854202 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1948C>G (p.Pro650Ala) | single nucleotide variant | not provided [RCV002909821] | Chr9:114091869 [GRCh38] Chr9:116854149 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1715C>G (p.Thr572Ser) | single nucleotide variant | not provided [RCV002952939] | Chr9:114092434 [GRCh38] Chr9:116854714 [GRCh37] Chr9:9q32 |
benign|conflicting interpretations of pathogenicity |
NM_001388308.1(KIF12):c.1491+12G>A | single nucleotide variant | not provided [RCV002805715] | Chr9:114093395 [GRCh38] Chr9:116855675 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1183C>T (p.Arg395Cys) | single nucleotide variant | Inborn genetic diseases [RCV002768546] | Chr9:114094392 [GRCh38] Chr9:116856672 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1223-13T>C | single nucleotide variant | not provided [RCV002790082] | Chr9:114094284 [GRCh38] Chr9:116856564 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1313+18G>A | single nucleotide variant | not provided [RCV002574241] | Chr9:114094163 [GRCh38] Chr9:116856443 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.943A>G (p.Ile315Val) | single nucleotide variant | Inborn genetic diseases [RCV002708730] | Chr9:114095285 [GRCh38] Chr9:116857565 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1119+11G>A | single nucleotide variant | not provided [RCV002790216] | Chr9:114095012 [GRCh38] Chr9:116857292 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1724G>A (p.Arg575Gln) | single nucleotide variant | Inborn genetic diseases [RCV002956432] | Chr9:114092425 [GRCh38] Chr9:116854705 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1842C>T (p.Ala614=) | single nucleotide variant | not provided [RCV003023197] | Chr9:114091975 [GRCh38] Chr9:116854255 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1262G>A (p.Arg421Gln) | single nucleotide variant | Inborn genetic diseases [RCV002891318] | Chr9:114094232 [GRCh38] Chr9:116856512 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1900del (p.Gln634fs) | deletion | not provided [RCV002958401] | Chr9:114091917 [GRCh38] Chr9:116854197 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1014+4C>G | single nucleotide variant | not provided [RCV002917809] | Chr9:114095210 [GRCh38] Chr9:116857490 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1011C>T (p.Leu337=) | single nucleotide variant | not provided [RCV002578639] | Chr9:114095217 [GRCh38] Chr9:116857497 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1921G>A (p.Ala641Thr) | single nucleotide variant | not provided [RCV002922321] | Chr9:114091896 [GRCh38] Chr9:116854176 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.646+10G>T | single nucleotide variant | not provided [RCV002832834] | Chr9:114097291 [GRCh38] Chr9:116859571 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.598G>T (p.Val200Leu) | single nucleotide variant | not provided [RCV002895349] | Chr9:114097349 [GRCh38] Chr9:116859629 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1303G>A (p.Glu435Lys) | single nucleotide variant | Inborn genetic diseases [RCV003277486] | Chr9:114094191 [GRCh38] Chr9:116856471 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.704A>G (p.His235Arg) | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV003228196] | Chr9:114096421 [GRCh38] Chr9:116858701 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1544G>A (p.Arg515Gln) | single nucleotide variant | Inborn genetic diseases [RCV003190840] | Chr9:114093281 [GRCh38] Chr9:116855561 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1123C>T (p.Pro375Ser) | single nucleotide variant | Inborn genetic diseases [RCV003261377] | Chr9:114094452 [GRCh38] Chr9:116856732 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1660C>T (p.Pro554Ser) | single nucleotide variant | Inborn genetic diseases [RCV003215071] | Chr9:114092579 [GRCh38] Chr9:116854859 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1740G>A (p.Met580Ile) | single nucleotide variant | Inborn genetic diseases [RCV003347821]|not provided [RCV003561319] | Chr9:114092409 [GRCh38] Chr9:116854689 [GRCh37] Chr9:9q32 |
likely benign|uncertain significance |
NM_001388308.1(KIF12):c.1408C>T (p.Leu470Phe) | single nucleotide variant | Inborn genetic diseases [RCV003350239] | Chr9:114093490 [GRCh38] Chr9:116855770 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1819G>A (p.Gly607Arg) | single nucleotide variant | Inborn genetic diseases [RCV003354440] | Chr9:114091998 [GRCh38] Chr9:116854278 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1403G>A (p.Arg468His) | single nucleotide variant | Inborn genetic diseases [RCV004364446]|KIF12-related disorder [RCV003402853]|not provided [RCV004696540] | Chr9:114093495 [GRCh38] Chr9:116855775 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1596+14T>C | single nucleotide variant | not provided [RCV003881006] | Chr9:114093215 [GRCh38] Chr9:116855495 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1125T>C (p.Pro375=) | single nucleotide variant | not provided [RCV003714381] | Chr9:114094450 [GRCh38] Chr9:116856730 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1551_1558del (p.Ala519fs) | deletion | not provided [RCV003826019] | Chr9:114093267..114093274 [GRCh38] Chr9:116855547..116855554 [GRCh37] Chr9:9q32 |
pathogenic |
NM_001388308.1(KIF12):c.731G>A (p.Arg244His) | single nucleotide variant | not provided [RCV003548071] | Chr9:114096394 [GRCh38] Chr9:116858674 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.929G>A (p.Arg310Gln) | single nucleotide variant | not provided [RCV003826742] | Chr9:114095299 [GRCh38] Chr9:116857579 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1223-6C>T | single nucleotide variant | not provided [RCV003715781] | Chr9:114094277 [GRCh38] Chr9:116856557 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1698-1G>C | single nucleotide variant | not provided [RCV003687336] | Chr9:114092452 [GRCh38] Chr9:116854732 [GRCh37] Chr9:9q32 |
likely pathogenic |
NM_001388308.1(KIF12):c.1015-15G>A | single nucleotide variant | not provided [RCV003811845] | Chr9:114095142 [GRCh38] Chr9:116857422 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1401-15T>C | single nucleotide variant | not provided [RCV003849832] | Chr9:114093512 [GRCh38] Chr9:116855792 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.912G>A (p.Leu304=) | single nucleotide variant | not provided [RCV003838101] | Chr9:114095316 [GRCh38] Chr9:116857596 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1551C>T (p.Pro517=) | single nucleotide variant | not provided [RCV003559087] | Chr9:114093274 [GRCh38] Chr9:116855554 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1118A>G (p.Lys373Arg) | single nucleotide variant | not provided [RCV003728591] | Chr9:114095024 [GRCh38] Chr9:116857304 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1455G>A (p.Pro485=) | single nucleotide variant | not provided [RCV003727171] | Chr9:114093443 [GRCh38] Chr9:116855723 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.697C>T (p.Arg233Ter) | single nucleotide variant | not provided [RCV003820599] | Chr9:114096428 [GRCh38] Chr9:116858708 [GRCh37] Chr9:9q32 |
pathogenic |
NM_001388308.1(KIF12):c.829G>A (p.Ala277Thr) | single nucleotide variant | not provided [RCV003564606] | Chr9:114096117 [GRCh38] Chr9:116858397 [GRCh37] Chr9:9q32 |
benign |
NM_001388308.1(KIF12):c.1249G>A (p.Ala417Thr) | single nucleotide variant | not provided [RCV003733427] | Chr9:114094245 [GRCh38] Chr9:116856525 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1243C>G (p.Arg415Gly) | single nucleotide variant | not provided [RCV003553571] | Chr9:114094251 [GRCh38] Chr9:116856531 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.480C>T (p.Arg160=) | single nucleotide variant | not provided [RCV003859022] | Chr9:114097637 [GRCh38] Chr9:116859917 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1491+11C>T | single nucleotide variant | not provided [RCV003823475] | Chr9:114093396 [GRCh38] Chr9:116855676 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1101C>T (p.Thr367=) | single nucleotide variant | not provided [RCV003727345] | Chr9:114095041 [GRCh38] Chr9:116857321 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.1550C>T (p.Pro517Leu) | single nucleotide variant | not provided [RCV003728766] | Chr9:114093275 [GRCh38] Chr9:116855555 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1914T>G (p.Ser638Arg) | single nucleotide variant | Inborn genetic diseases [RCV004364923]|not provided [RCV003541937] | Chr9:114091903 [GRCh38] Chr9:116854183 [GRCh37] Chr9:9q32 |
likely benign|uncertain significance |
NM_001388308.1(KIF12):c.1314-4C>G | single nucleotide variant | KIF12-related disorder [RCV003957269] | Chr9:114093976 [GRCh38] Chr9:116856256 [GRCh37] Chr9:9q32 |
likely benign |
NM_001388308.1(KIF12):c.375+1G>T | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV003989888] | Chr9:114098114 [GRCh38] Chr9:116860394 [GRCh37] Chr9:9q32 |
likely pathogenic |
NM_001388308.1(KIF12):c.1723C>T (p.Arg575Ter) | single nucleotide variant | Cholestasis, progressive familial intrahepatic, 8 [RCV003989889] | Chr9:114092426 [GRCh38] Chr9:116854706 [GRCh37] Chr9:9q32 |
likely pathogenic |
NM_001388308.1(KIF12):c.878G>A (p.Arg293Gln) | single nucleotide variant | not provided [RCV004547005] | Chr9:114096068 [GRCh38] Chr9:116858348 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.425C>A (p.Thr142Asn) | single nucleotide variant | Inborn genetic diseases [RCV004411732] | Chr9:114097692 [GRCh38] Chr9:116859972 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1771C>G (p.Pro591Ala) | single nucleotide variant | Inborn genetic diseases [RCV004411733] | Chr9:114092378 [GRCh38] Chr9:116854658 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.430G>A (p.Ala144Thr) | single nucleotide variant | Inborn genetic diseases [RCV004411734] | Chr9:114097687 [GRCh38] Chr9:116859967 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.655C>T (p.Arg219Cys) | single nucleotide variant | Inborn genetic diseases [RCV004411735] | Chr9:114096470 [GRCh38] Chr9:116858750 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.676A>T (p.Thr226Ser) | single nucleotide variant | Inborn genetic diseases [RCV004411736] | Chr9:114096449 [GRCh38] Chr9:116858729 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.698G>A (p.Arg233Gln) | single nucleotide variant | Inborn genetic diseases [RCV004411737] | Chr9:114096427 [GRCh38] Chr9:116858707 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.854T>A (p.Met285Lys) | single nucleotide variant | Inborn genetic diseases [RCV004411738] | Chr9:114096092 [GRCh38] Chr9:116858372 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.983A>T (p.Asp328Val) | single nucleotide variant | Inborn genetic diseases [RCV004411739] | Chr9:114095245 [GRCh38] Chr9:116857525 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1024G>C (p.Val342Leu) | single nucleotide variant | Inborn genetic diseases [RCV004411740] | Chr9:114095118 [GRCh38] Chr9:116857398 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1145G>A (p.Arg382His) | single nucleotide variant | Inborn genetic diseases [RCV004411741] | Chr9:114094430 [GRCh38] Chr9:116856710 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1200G>C (p.Gln400His) | single nucleotide variant | Inborn genetic diseases [RCV004411742] | Chr9:114094375 [GRCh38] Chr9:116856655 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.730C>T (p.Arg244Cys) | single nucleotide variant | Inborn genetic diseases [RCV004631160] | Chr9:114096395 [GRCh38] Chr9:116858675 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1004T>A (p.Val335Asp) | single nucleotide variant | Inborn genetic diseases [RCV004631162] | Chr9:114095224 [GRCh38] Chr9:116857504 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.1064C>T (p.Thr355Ile) | single nucleotide variant | Inborn genetic diseases [RCV004631159] | Chr9:114095078 [GRCh38] Chr9:116857358 [GRCh37] Chr9:9q32 |
uncertain significance |
NM_001388308.1(KIF12):c.847G>C (p.Glu283Gln) | single nucleotide variant | Inborn genetic diseases [RCV004631161] | Chr9:114096099 [GRCh38] Chr9:116858379 [GRCh37] Chr9:9q32 |
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. |
RH78789 |
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A008C07 |
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MARC_14577-14578:1009483106:1 |
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Ensembl Acc Id: | ENST00000374118 ⟹ ENSP00000363232 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000468460 ⟹ ENSP00000473459 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000473174 ⟹ ENSP00000491357 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000491059 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000498016 ⟹ ENSP00000491090 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000639832 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000640217 ⟹ ENSP00000491702 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000640553 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000643988 ⟹ ENSP00000495410 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000691154 ⟹ ENSP00000510798 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001388308 ⟹ NP_001375237 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_138424 ⟹ NP_612433 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005251683 ⟹ XP_005251740 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006716947 ⟹ XP_006717010 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_024447406 ⟹ XP_024303174 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_047422709 ⟹ XP_047278665 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047422710 ⟹ XP_047278666 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047422711 ⟹ XP_047278667 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054361884 ⟹ XP_054217859 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054361885 ⟹ XP_054217860 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054361886 ⟹ XP_054217861 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054361887 ⟹ XP_054217862 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054361888 ⟹ XP_054217863 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054361889 ⟹ XP_054217864 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007061239 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007061240 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008487933 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008487934 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_612433 ⟸ NM_138424 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q96FN5 (UniProtKB/Swiss-Prot), B1ALC3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005251740 ⟸ XM_005251683 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q96FN5 (UniProtKB/Swiss-Prot), Q5TBE0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006717010 ⟸ XM_006716947 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96FN5 (UniProtKB/Swiss-Prot), Q5TBE0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024303174 ⟸ XM_024447406 |
- Peptide Label: | isoform X5 |
- Sequence: |
Ensembl Acc Id: | ENSP00000363232 ⟸ ENST00000374118 |
Ensembl Acc Id: | ENSP00000473459 ⟸ ENST00000468460 |
Ensembl Acc Id: | ENSP00000491702 ⟸ ENST00000640217 |
Ensembl Acc Id: | ENSP00000491090 ⟸ ENST00000498016 |
Ensembl Acc Id: | ENSP00000495410 ⟸ ENST00000643988 |
Ensembl Acc Id: | ENSP00000491357 ⟸ ENST00000473174 |
RefSeq Acc Id: | NP_001375237 ⟸ NM_001388308 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q96FN5 (UniProtKB/Swiss-Prot), Q5TBE0 (UniProtKB/Swiss-Prot), A0A1W2PPS5 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSP00000510798 ⟸ ENST00000691154 |
RefSeq Acc Id: | XP_047278666 ⟸ XM_047422710 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047278665 ⟸ XM_047422709 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047278667 ⟸ XM_047422711 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054217861 ⟸ XM_054361886 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q96FN5 (UniProtKB/Swiss-Prot), Q5TBE0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054217860 ⟸ XM_054361885 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054217859 ⟸ XM_054361884 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054217862 ⟸ XM_054361887 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96FN5 (UniProtKB/Swiss-Prot), Q5TBE0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054217864 ⟸ XM_054361889 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054217863 ⟸ XM_054361888 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96FN5-F1-model_v2 | AlphaFold | Q96FN5 | 1-646 | view protein structure |
RGD ID: | 7215949 | ||||||||
Promoter ID: | EPDNEW_H13720 | ||||||||
Type: | initiation region | ||||||||
Name: | KIF12_3 | ||||||||
Description: | kinesin family member 12 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H13721 EPDNEW_H13722 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7215951 | ||||||||
Promoter ID: | EPDNEW_H13721 | ||||||||
Type: | single initiation site | ||||||||
Name: | KIF12_2 | ||||||||
Description: | kinesin family member 12 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H13720 EPDNEW_H13722 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7215953 | ||||||||
Promoter ID: | EPDNEW_H13722 | ||||||||
Type: | initiation region | ||||||||
Name: | KIF12_1 | ||||||||
Description: | kinesin family member 12 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H13720 EPDNEW_H13721 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:21495 | AgrOrtholog |
COSMIC | KIF12 | COSMIC |
Ensembl Genes | ENSG00000136883 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000473174.1 | UniProtKB/TrEMBL |
ENST00000498016.1 | UniProtKB/TrEMBL | |
ENST00000640217 | ENTREZGENE | |
ENST00000640217.2 | UniProtKB/TrEMBL | |
ENST00000640553 | ENTREZGENE | |
ENST00000643988.1 | UniProtKB/TrEMBL | |
ENST00000691154.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.850.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000136883 | GTEx |
HGNC ID | HGNC:21495 | ENTREZGENE |
Human Proteome Map | KIF12 | Human Proteome Map |
InterPro | Kinesin-like_fam | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Kinesin_motor_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kinesin_motor_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kinesin_motor_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:113220 | UniProtKB/Swiss-Prot |
NCBI Gene | 113220 | ENTREZGENE |
OMIM | 611278 | OMIM |
PANTHER | CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ZGC:66125 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Kinesin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134931618 | PharmGKB |
PRINTS | KINESINHEAVY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | KINESIN_MOTOR_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KINESIN_MOTOR_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | KISc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1W2PNV5_HUMAN | UniProtKB/TrEMBL |
A0A1W2PP63_HUMAN | UniProtKB/TrEMBL | |
A0A1W2PPS5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A2R8Y6R2_HUMAN | UniProtKB/TrEMBL | |
A0A8I5KWX3_HUMAN | UniProtKB/TrEMBL | |
B1ALC3 | ENTREZGENE | |
KIF12_HUMAN | UniProtKB/Swiss-Prot | |
Q5TBE0 | ENTREZGENE | |
Q96FN5 | ENTREZGENE | |
UniProt Secondary | Q5TBE0 | UniProtKB/Swiss-Prot |