Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25826090 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25826090 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:12975309 | PMID:15247411 | PMID:15489334 | PMID:16335952 | PMID:17897319 | PMID:19056867 | PMID:21082674 | PMID:21170088 | PMID:21873635 | PMID:22863883 | PMID:22939629 |
PMID:23376485 | PMID:23533145 | PMID:25416956 | PMID:25468996 | PMID:26157350 | PMID:28514442 | PMID:29198941 | PMID:29507755 | PMID:30252131 | PMID:30745168 | PMID:31215106 | PMID:31505229 |
PMID:31871319 | PMID:32296183 | PMID:32633347 | PMID:33961781 | PMID:35156780 | PMID:35170203 | PMID:35696571 | PMID:35729462 | PMID:37331376 | PMID:37454705 |
VASN (Homo sapiens - human) |
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Vasn (Mus musculus - house mouse) |
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Vasn (Rattus norvegicus - Norway rat) |
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Vasn (Chinchilla lanigera - long-tailed chinchilla) |
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VASN (Pan paniscus - bonobo/pygmy chimpanzee) |
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VASN (Canis lupus familiaris - dog) |
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Vasn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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VASN (Sus scrofa - pig) |
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VASN (Chlorocebus sabaeus - green monkey) |
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Vasn (Heterocephalus glaber - naked mole-rat) |
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Variants in VASN
39 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 | copy number gain | See cases [RCV000050956] | Chr16:3710449..4644951 [GRCh38] Chr16:3760450..4694952 [GRCh37] Chr16:3700451..4634953 [NCBI36] Chr16:16p13.3 |
uncertain significance |
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 | copy number gain | See cases [RCV000052367] | Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 | copy number loss | See cases [RCV000053270] | Chr16:2850734..7110697 [GRCh38] Chr16:2900735..7160698 [GRCh37] Chr16:2840736..7100699 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 | copy number gain | See cases [RCV000133780] | Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1 | copy number loss | See cases [RCV000137768] | Chr16:3820522..4668347 [GRCh38] Chr16:3870523..4718348 [GRCh37] Chr16:3810524..4658349 [NCBI36] Chr16:16p13.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 | copy number gain | See cases [RCV000139166] | Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 | copy number gain | See cases [RCV000142504] | Chr16:3726702..4644961 [GRCh38] Chr16:3776703..4694962 [GRCh37] Chr16:3716704..4634963 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 | copy number gain | See cases [RCV000143710] | Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 | copy number gain | See cases [RCV000203445] | Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Ductal breast carcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 | copy number gain | Ductal breast carcinoma [RCV000207326] | Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) | copy number gain | See cases [RCV000446555] | Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 | copy number gain | See cases [RCV000445663] | Chr16:97133..5122974 [GRCh37] Chr16:16p13.3 |
pathogenic |
maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 | copy number gain | See cases [RCV000510698] | Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
NM_138440.3(VASN):c.641G>A (p.Arg214His) | single nucleotide variant | Inborn genetic diseases [RCV003301771] | Chr16:4381518 [GRCh38] Chr16:4431519 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 | copy number gain | See cases [RCV000511360] | Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 | copy number gain | See cases [RCV000511502] | Chr16:2891391..4440397 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 | copy number gain | See cases [RCV000512194] | Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_138440.3(VASN):c.1154C>T (p.Pro385Leu) | single nucleotide variant | Inborn genetic diseases [RCV003255013] | Chr16:4382031 [GRCh38] Chr16:4432032 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 | copy number loss | See cases [RCV000511703] | Chr16:3146027..6362229 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 | copy number gain | not provided [RCV000683747] | Chr16:2651354..4460114 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 | copy number gain | not provided [RCV000683743] | Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:4367730-4445327)x3 | copy number gain | not provided [RCV000751554] | Chr16:4367730..4445327 [GRCh37] Chr16:16p13.3 |
benign |
NM_138440.3(VASN):c.1304G>T (p.Gly435Val) | single nucleotide variant | Inborn genetic diseases [RCV003244784] | Chr16:4382181 [GRCh38] Chr16:4432182 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.705C>T (p.Ile235=) | single nucleotide variant | not provided [RCV000883436] | Chr16:4381582 [GRCh38] Chr16:4431583 [GRCh37] Chr16:16p13.3 |
benign |
NC_000016.10:g.(?_3727698)_(4802591_?)del | deletion | Rubinstein-Taybi syndrome [RCV000813975] | Chr16:3727698..4802591 [GRCh38] Chr16:3777699..4852592 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 | copy number gain | not provided [RCV000846351] | Chr16:3731117..5325699 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:4382314-4511029)x1 | copy number loss | not provided [RCV000848810] | Chr16:4382314..4511029 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 | copy number gain | not provided [RCV001006745] | Chr16:2651354..4614965 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.10:g.(?_3727698)_(4802591_?)dup | duplication | Amelocerebrohypohidrotic syndrome [RCV001031942] | Chr16:3777699..4852592 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 | copy number gain | not provided [RCV002472599] | Chr16:4380767..30445350 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 | copy number gain | See cases [RCV001263169] | Chr16:2959279..30190593 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 | copy number gain | not provided [RCV001259749] | Chr16:85880..5249457 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_3777699)_(4852592_?)dup | duplication | Kohlschutter's syndrome [RCV001305610] | Chr16:3777699..4852592 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 | copy number gain | not provided [RCV001537890] | Chr16:84485..5251013 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.10:g.3619617_4448281del | deletion | See cases [RCV003313806] | Chr16:3619617..4448281 [GRCh38] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_256302)_(5971108_?)dup | duplication | Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] | Chr16:256302..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(4852572_?)dup | duplication | Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] | Chr16:256302..4852572 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_3293141)_(5971108_?)dup | duplication | Rubinstein-Taybi syndrome [RCV003113465] | Chr16:3293141..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 | copy number gain | See cases [RCV002292215] | Chr16:111043..6627459 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_138440.3(VASN):c.890G>A (p.Arg297His) | single nucleotide variant | Inborn genetic diseases [RCV002990172] | Chr16:4381767 [GRCh38] Chr16:4431768 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.974A>G (p.Glu325Gly) | single nucleotide variant | Inborn genetic diseases [RCV002860062] | Chr16:4381851 [GRCh38] Chr16:4431852 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1276C>T (p.His426Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002752119] | Chr16:4382153 [GRCh38] Chr16:4432154 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.253C>A (p.Gln85Lys) | single nucleotide variant | Inborn genetic diseases [RCV002685296] | Chr16:4381130 [GRCh38] Chr16:4431131 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1750G>A (p.Ala584Thr) | single nucleotide variant | Inborn genetic diseases [RCV002970513] | Chr16:4382627 [GRCh38] Chr16:4432628 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.602G>T (p.Gly201Val) | single nucleotide variant | Inborn genetic diseases [RCV002778268] | Chr16:4381479 [GRCh38] Chr16:4431480 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.538A>C (p.Ser180Arg) | single nucleotide variant | Inborn genetic diseases [RCV002689849] | Chr16:4381415 [GRCh38] Chr16:4431416 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.565C>G (p.Leu189Val) | single nucleotide variant | Inborn genetic diseases [RCV002821214] | Chr16:4381442 [GRCh38] Chr16:4431443 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1711G>A (p.Glu571Lys) | single nucleotide variant | Inborn genetic diseases [RCV002693356] | Chr16:4382588 [GRCh38] Chr16:4432589 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1394C>T (p.Thr465Ile) | single nucleotide variant | Inborn genetic diseases [RCV002660186] | Chr16:4382271 [GRCh38] Chr16:4432272 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.302A>T (p.Asn101Ile) | single nucleotide variant | Inborn genetic diseases [RCV002925177] | Chr16:4381179 [GRCh38] Chr16:4431180 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.410G>A (p.Arg137His) | single nucleotide variant | Inborn genetic diseases [RCV002707483] | Chr16:4381287 [GRCh38] Chr16:4431288 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_138440.3(VASN):c.1461C>G (p.Ser487Arg) | single nucleotide variant | Inborn genetic diseases [RCV002887020] | Chr16:4382338 [GRCh38] Chr16:4432339 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1273C>T (p.Arg425Trp) | single nucleotide variant | Inborn genetic diseases [RCV003001276] | Chr16:4382150 [GRCh38] Chr16:4432151 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.412C>T (p.His138Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002743209] | Chr16:4381289 [GRCh38] Chr16:4431290 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1862C>T (p.Pro621Leu) | single nucleotide variant | Inborn genetic diseases [RCV002713430] | Chr16:4382739 [GRCh38] Chr16:4432740 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.67G>A (p.Gly23Ser) | single nucleotide variant | Inborn genetic diseases [RCV002713661] | Chr16:4380944 [GRCh38] Chr16:4430945 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1908G>T (p.Lys636Asn) | single nucleotide variant | Inborn genetic diseases [RCV003004806] | Chr16:4382785 [GRCh38] Chr16:4432786 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.770C>T (p.Pro257Leu) | single nucleotide variant | Inborn genetic diseases [RCV002698749] | Chr16:4381647 [GRCh38] Chr16:4431648 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.992C>A (p.Pro331Gln) | single nucleotide variant | Inborn genetic diseases [RCV002930818] | Chr16:4381869 [GRCh38] Chr16:4431870 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.409C>T (p.Arg137Cys) | single nucleotide variant | Inborn genetic diseases [RCV002809265] | Chr16:4381286 [GRCh38] Chr16:4431287 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.646C>T (p.Arg216Cys) | single nucleotide variant | Inborn genetic diseases [RCV002648531] | Chr16:4381523 [GRCh38] Chr16:4431524 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1651G>A (p.Gly551Arg) | single nucleotide variant | Inborn genetic diseases [RCV002989609] | Chr16:4382528 [GRCh38] Chr16:4432529 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1606A>G (p.Met536Val) | single nucleotide variant | Inborn genetic diseases [RCV002670272] | Chr16:4382483 [GRCh38] Chr16:4432484 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.379G>C (p.Glu127Gln) | single nucleotide variant | Inborn genetic diseases [RCV002989706] | Chr16:4381256 [GRCh38] Chr16:4431257 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1624C>T (p.Arg542Trp) | single nucleotide variant | Inborn genetic diseases [RCV002655601] | Chr16:4382501 [GRCh38] Chr16:4432502 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1625G>A (p.Arg542Gln) | single nucleotide variant | Inborn genetic diseases [RCV002679183] | Chr16:4382502 [GRCh38] Chr16:4432503 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1385G>A (p.Arg462Gln) | single nucleotide variant | Inborn genetic diseases [RCV002655540] | Chr16:4382262 [GRCh38] Chr16:4432263 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_138440.3(VASN):c.1432G>A (p.Val478Met) | single nucleotide variant | Inborn genetic diseases [RCV002656061] | Chr16:4382309 [GRCh38] Chr16:4432310 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.298G>A (p.Ala100Thr) | single nucleotide variant | Inborn genetic diseases [RCV003175006] | Chr16:4381175 [GRCh38] Chr16:4431176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.469G>A (p.Asp157Asn) | single nucleotide variant | Inborn genetic diseases [RCV003197810] | Chr16:4381346 [GRCh38] Chr16:4431347 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1085G>A (p.Arg362Lys) | single nucleotide variant | Inborn genetic diseases [RCV003190364] | Chr16:4381962 [GRCh38] Chr16:4431963 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1216C>T (p.Pro406Ser) | single nucleotide variant | Inborn genetic diseases [RCV003205924] | Chr16:4382093 [GRCh38] Chr16:4432094 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1304G>C (p.Gly435Ala) | single nucleotide variant | Inborn genetic diseases [RCV003302431] | Chr16:4382181 [GRCh38] Chr16:4432182 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1198G>A (p.Val400Ile) | single nucleotide variant | Inborn genetic diseases [RCV003261639] | Chr16:4382075 [GRCh38] Chr16:4432076 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_138440.3(VASN):c.907G>A (p.Val303Met) | single nucleotide variant | Inborn genetic diseases [RCV003340379] | Chr16:4381784 [GRCh38] Chr16:4431785 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1687C>T (p.His563Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003381027] | Chr16:4382564 [GRCh38] Chr16:4432565 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1280A>G (p.His427Arg) | single nucleotide variant | Inborn genetic diseases [RCV003344735] | Chr16:4382157 [GRCh38] Chr16:4432158 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.865C>T (p.Arg289Cys) | single nucleotide variant | Inborn genetic diseases [RCV003386730] | Chr16:4381742 [GRCh38] Chr16:4431743 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1906A>G (p.Lys636Glu) | single nucleotide variant | Inborn genetic diseases [RCV003353882] | Chr16:4382783 [GRCh38] Chr16:4432784 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.1097G>A (p.Arg366Gln) | single nucleotide variant | Inborn genetic diseases [RCV003347054] | Chr16:4381974 [GRCh38] Chr16:4431975 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.445C>T (p.Arg149Cys) | single nucleotide variant | Inborn genetic diseases [RCV003354546] | Chr16:4381322 [GRCh38] Chr16:4431323 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_138440.3(VASN):c.442G>A (p.Asp148Asn) | single nucleotide variant | Inborn genetic diseases [RCV003375787] | Chr16:4381319 [GRCh38] Chr16:4431320 [GRCh37] Chr16:16p13.3 |
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. |
SHGC-56815 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 2 | |||||||||||||||||
Medium | 1723 | 1876 | 1584 | 578 | 410 | 425 | 3533 | 966 | 1451 | 383 | 1408 | 1468 | 164 | 1 | 1204 | 2056 | 5 | 2 |
Low | 678 | 792 | 139 | 46 | 903 | 40 | 821 | 1225 | 2278 | 35 | 47 | 118 | 10 | 732 | 1 | |||
Below cutoff | 29 | 323 | 570 | 1 | 3 | 5 | 1 | 3 | 20 |
RefSeq Transcripts | NG_052966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_138440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC012676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AY166584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000304735 ⟹ ENSP00000306864 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_138440 ⟹ NP_612449 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_612449 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH13767 | (Get FASTA) | NCBI Sequence Viewer |
AAH68575 | (Get FASTA) | NCBI Sequence Viewer | |
AAO27704 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88665 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88666 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85311 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000306864 | ||
ENSP00000306864.3 | |||
ENSP00000481884.1 | |||
GenBank Protein | Q6EMK4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_612449 ⟸ NM_138440 |
- Peptide Label: | precursor |
- UniProtKB: | Q6UXL5 (UniProtKB/Swiss-Prot), Q6UXL4 (UniProtKB/Swiss-Prot), Q96CX1 (UniProtKB/Swiss-Prot), Q6EMK4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000306864 ⟸ ENST00000304735 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6EMK4-F1-model_v2 | AlphaFold | Q6EMK4 | 1-673 | view protein structure |
RGD ID: | 6793591 | ||||||||
Promoter ID: | HG_KWN:22921 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid | ||||||||
Transcripts: | NM_138440 | ||||||||
Position: |
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RGD ID: | 6793592 | ||||||||
Promoter ID: | HG_KWN:22922 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | UC010BTQ.1 | ||||||||
Position: |
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RGD ID: | 7231203 | ||||||||
Promoter ID: | EPDNEW_H21346 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | VASN_1 | ||||||||
Description: | vasorin | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:18517 | AgrOrtholog |
COSMIC | VASN | COSMIC |
Ensembl Genes | ENSG00000168140 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000274334 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000304735 | ENTREZGENE |
ENST00000304735.4 | UniProtKB/Swiss-Prot | |
ENST00000622615.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
3.80.10.10 | UniProtKB/Swiss-Prot | |
Laminin | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000168140 | GTEx |
ENSG00000274334 | GTEx | |
HGNC ID | HGNC:18517 | ENTREZGENE |
Human Proteome Map | VASN | Human Proteome Map |
InterPro | Cys-rich_flank_reg_C | UniProtKB/Swiss-Prot |
EGF-like_dom | UniProtKB/Swiss-Prot | |
FN3_dom | UniProtKB/Swiss-Prot | |
FN3_sf | UniProtKB/Swiss-Prot | |
Ig-like_fold | UniProtKB/Swiss-Prot | |
Leu-rich_rpt | UniProtKB/Swiss-Prot | |
Leu-rich_rpt_typical-subtyp | UniProtKB/Swiss-Prot | |
LRR_dom_sf | UniProtKB/Swiss-Prot | |
LRRNT | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:114990 | UniProtKB/Swiss-Prot |
NCBI Gene | 114990 | ENTREZGENE |
OMIM | 608843 | OMIM |
PANTHER | ANTIGEN BSP, PUTATIVE-RELATED | UniProtKB/Swiss-Prot |
VASORIN | UniProtKB/Swiss-Prot | |
Pfam | EGF | UniProtKB/Swiss-Prot |
LRR_8 | UniProtKB/Swiss-Prot | |
PharmGKB | PA134974883 | PharmGKB |
PRINTS | LEURICHRPT | UniProtKB/Swiss-Prot |
PROSITE | EGF_1 | UniProtKB/Swiss-Prot |
EGF_2 | UniProtKB/Swiss-Prot | |
EGF_3 | UniProtKB/Swiss-Prot | |
FN3 | UniProtKB/Swiss-Prot | |
LRR | UniProtKB/Swiss-Prot | |
SMART | EGF | UniProtKB/Swiss-Prot |
LRR_BAC | UniProtKB/Swiss-Prot | |
LRR_SD22 | UniProtKB/Swiss-Prot | |
LRR_TYP | UniProtKB/Swiss-Prot | |
LRRCT | UniProtKB/Swiss-Prot | |
LRRNT | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | EGF/Laminin | UniProtKB/Swiss-Prot |
L domain-like | UniProtKB/Swiss-Prot | |
SSF49265 | UniProtKB/Swiss-Prot | |
UniProt | Q6EMK4 | ENTREZGENE |
Q6UXL4 | ENTREZGENE | |
Q6UXL5 | ENTREZGENE | |
Q96CX1 | ENTREZGENE | |
VASN_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q6UXL4 | UniProtKB/Swiss-Prot |
Q6UXL5 | UniProtKB/Swiss-Prot | |
Q96CX1 | UniProtKB/Swiss-Prot |