Evidence Details for PITPNC1
Basic Information Top
| Gene Symbol: | PITPNC1 ( RDGB-BETA,RDGBB,RDGBB1 ) |
|---|---|
| Gene Full Name: | phosphatidylinositol transfer protein, cytoplasmic 1 |
| Band: | 17q24.3 |
| Quick Links | Entrez ID:26207; OMIM: 605134; Uniprot ID:PITC1_HUMAN; ENSEMBL ID: ENSG00000154217; HGNC ID: 21045 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PITPNC1|26207|nucleotide
ATGCTGCTGAAAGAGTACCGGATCTGCATGCCGCTCACCGTAGACGAGTACAAAATTGGACAGCTGTACATGATCAGCAAACACAGCCATGAACAGAGTGACCGG
GGAGAAGGGGTGGAGGTCGTCCAGAATGAGCCCTTTGAGGACCCTCACCATGGCAATGGGCAGTTCACCGAGAAGCGGGTGTATCTCAACAGCAAACTGCCTAGT
TGGGCTAGAGCTGTTGTCCCCAAAATATTTTATGTGACAGAGAAGGCTTGGAACTATTATCCCTACACAATTACAGAATACACATGTTCCTTTCTGCCGAAATTC
TCCATTCATATAGAAACCAAGTATGAGGACAACAAAGGAAGCAATGACACCATTTTCGACAATGAAGCCAAAGACGTGGAGAGAGAAGTTTGCTTTATTGATATT
GCCTGCGATGAAATTCCAGAGCGCTACTACAAAGAATCTGAGGATCCTAAGCACTTCAAGTCAGAGAAGACAGGACGGGGACAGTTGAGGGAAGGCTGGAGAGAT
AGTCATCAGCCTATCATGTGCTCCTACAAGCTGGTGACTGTGAAGTTTGAGGTCTGGGGGCTTCAGACCAGAGTGGAACAATTTGTACACAAGGTGGTCCGAGAC
ATTCTGCTGATTGGACATAGACAGGCTTTTGCATGGGTTGATGAGTGGTATGACATGACAATGGATGAAGTCCGAGAATTTGAACGAGCCACTCAGGAAGCCACC
AACAAGAAAATCGGCATTTTCCCACCTGCAATTTCTATCTCCAGCATCCCCCTGCTGCCTTCTTCCGTCCGCAGTGCGCCTTCTAGTGCTCCATCCACCCCTCTC
TCCACAGACGCACCCGAATTTCTGTCCGTTCCCAAAGATCGGCCCCGGAAAAAGTCTGCCCCAGAAACTCTCACACTTCCAGACCCTGAGAAAAAAGCCACCCTG
AATTTACCCGGCATGCACTCTTCAGATAAGCCATGTCGGCCCAAATCTGAGTAA
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ATGCTGCTGAAAGAGTACCGGATCTGCATGCCGCTCACCGTAGACGAGTACAAAATTGGACAGCTGTACATGATCAGCAAACACAGCCATGAACAGAGTGACCGG
GGAGAAGGGGTGGAGGTCGTCCAGAATGAGCCCTTTGAGGACCCTCACCATGGCAATGGGCAGTTCACCGAGAAGCGGGTGTATCTCAACAGCAAACTGCCTAGT
TGGGCTAGAGCTGTTGTCCCCAAAATATTTTATGTGACAGAGAAGGCTTGGAACTATTATCCCTACACAATTACAGAATACACATGTTCCTTTCTGCCGAAATTC
TCCATTCATATAGAAACCAAGTATGAGGACAACAAAGGAAGCAATGACACCATTTTCGACAATGAAGCCAAAGACGTGGAGAGAGAAGTTTGCTTTATTGATATT
GCCTGCGATGAAATTCCAGAGCGCTACTACAAAGAATCTGAGGATCCTAAGCACTTCAAGTCAGAGAAGACAGGACGGGGACAGTTGAGGGAAGGCTGGAGAGAT
AGTCATCAGCCTATCATGTGCTCCTACAAGCTGGTGACTGTGAAGTTTGAGGTCTGGGGGCTTCAGACCAGAGTGGAACAATTTGTACACAAGGTGGTCCGAGAC
ATTCTGCTGATTGGACATAGACAGGCTTTTGCATGGGTTGATGAGTGGTATGACATGACAATGGATGAAGTCCGAGAATTTGAACGAGCCACTCAGGAAGCCACC
AACAAGAAAATCGGCATTTTCCCACCTGCAATTTCTATCTCCAGCATCCCCCTGCTGCCTTCTTCCGTCCGCAGTGCGCCTTCTAGTGCTCCATCCACCCCTCTC
TCCACAGACGCACCCGAATTTCTGTCCGTTCCCAAAGATCGGCCCCGGAAAAAGTCTGCCCCAGAAACTCTCACACTTCCAGACCCTGAGAAAAAAGCCACCCTG
AATTTACCCGGCATGCACTCTTCAGATAAGCCATGTCGGCCCAAATCTGAGTAA
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>PITPNC1|26207|protein
MLLKEYRICMPLTVDEYKIGQLYMISKHSHEQSDRGEGVEVVQNEPFEDPHHGNGQFTEKRVYLNSKLPSWARAVVPKIFYVTEKAWNYYPYTITEYTCSFLPKF
SIHIETKYEDNKGSNDTIFDNEAKDVEREVCFIDIACDEIPERYYKESEDPKHFKSEKTGRGQLREGWRDSHQPIMCSYKLVTVKFEVWGLQTRVEQFVHKVVRD
ILLIGHRQAFAWVDEWYDMTMDEVREFERATQEATNKKIGIFPPAISISSIPLLPSSVRSAPSSAPSTPLSTDAPEFLSVPKDRPRKKSAPETLTLPDPEKKATL
NLPGMHSSDKPCRPKSE
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MLLKEYRICMPLTVDEYKIGQLYMISKHSHEQSDRGEGVEVVQNEPFEDPHHGNGQFTEKRVYLNSKLPSWARAVVPKIFYVTEKAWNYYPYTITEYTCSFLPKF
SIHIETKYEDNKGSNDTIFDNEAKDVEREVCFIDIACDEIPERYYKESEDPKHFKSEKTGRGQLREGWRDSHQPIMCSYKLVTVKFEVWGLQTRVEQFVHKVVRD
ILLIGHRQAFAWVDEWYDMTMDEVREFERATQEATNKKIGIFPPAISISSIPLLPSSVRSAPSSAPSTPLSTDAPEFLSVPKDRPRKKSAPETLTLPDPEKKATL
NLPGMHSSDKPCRPKSE
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top