AutismKB 2.0

Annotation Detail for RPH3AL


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Basic Information Top
Gene Symbol:RPH3AL ( NOC2 )
Gene Full Name: rabphilin 3A-like (without C2 domains)
Band: 17p13.3
Quick LinksEntrez ID:9501; OMIM: 604881; Uniprot ID:RPH3L_HUMAN; ENSEMBL ID: ENSG00000181031; HGNC ID: 10296
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8Phosphoserine(CDK)HMM predict
38Phosphothreonine(PKC)HMM predict
82Phosphothreonine(PKC)HMM predict
192Phosphoserine(CK1)HMM predict
194Phosphothreonine(PKC)HMM predict
210Phosphoserine(CK1)HMM predict
212Phosphoserine(CK1)HMM predict
214Phosphoserine(CK1)HMM predict
217Phosphoserine(CK1)HMM predict
220Phosphoserine(CK1)HMM predict
265Phosphoserine(IKK)HMM predict
276O-linkedHMM predict
284MethylarginineHMM predict
288Phosphothreonine(PKC)HMM predict
296Phosphothreonine(MAPK)HMM predict
296Phosphothreonine(CDC2)HMM predict
296Phosphothreonine(CDK)HMM predict
313S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006987
  • Location:chr17 62293-202575
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 202201 203618 1417 334
FoxA1 MCF7MACSdata 202544 202743 199 68
RARA MCF7GSE15244 202389 203559 1170 399
RARG MCF7GSE15244 202435 203182 747 233
RARG MCF7GSE15244 205426 206373 947 3324
USF1 HepG2E 204694 205000 306 2272
USF2 HepG2E 205426 206408 982 3342
hScc1 BcellGSE12603 205426 206624 1198 3450
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50313 50521 208 11877
Oct4 ESGSE20650 51191 51467 276 10965
RARA MCF7GSE15244 48087 48515 428 13993
RARG MCF7GSE15244 56153 56844 691 5795
TFAP2C MCF7GSE21234 42525 42988 463 19537
hScc1 BcellGSE12603 48087 48370 283 14065
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 109095 109789 694 0
CTCF G2GSE9613 136882 138567 1685 0
CTCF G2GSE9613 144321 144784 463 0
CTCF G2GSE9613 145037 146211 1174 0
CTCF G2GSE9613 149435 149623 188 0
CTCF G2GSE9613 151695 152241 546 0
CTCF G2GSE9613 156718 157169 451 0
CTCF G2GSE9613 158594 158773 179 0
CTCF G2GSE9613 170543 170815 272 0
CTCF G2GSE9613 184209 185173 964 0
CTCF G2GSE9613 187277 187643 366 0
CTCF G2GSE9613 195459 195767 308 0
CTCF G2GSE9613 65379 65934 555 0
GABP HelaGSE8489 122738 123388 650 0
GABP HelaGSE8489 69818 71922 2104 0
GABP HelaGSE8489 83541 84207 666 0
GABP HelaGSE8489 92022 94082 2060 0
GABP k562GSE8489 69891 71922 2031 0
GABP k562GSE8489 92074 94109 2035 0
H3ac HepG2E 200792 201781 989 0
H3ac HepG2E 83584 84172 588 0
Nanog hESGSE18292 109575 110007 432 0
RARA MCF7GSE15244 122623 123388 765 0
RARA MCF7GSE15244 200488 200924 436 0
RARA MCF7GSE15244 69891 71922 2031 0
RARA MCF7GSE15244 83541 84207 666 0
RARG MCF7GSE15244 153225 153929 704 0
RARG MCF7GSE15244 164272 165483 1211 0
RARG MCF7GSE15244 166045 167280 1235 0
RARG MCF7GSE15244 198454 199284 830 0
RARG MCF7GSE15244 200488 201066 578 0
RARG MCF7GSE15244 69891 71830 1939 0
RARG MCF7GSE15244 83396 84207 811 0
RARG MCF7GSE15244 99649 100464 815 0
TAF k562GSE8489 91953 94082 2129 0
TFAP2C MCF7GSE21234 127450 127798 348 0
TFAP2C MCF7GSE21234 198753 199403 650 0
TFAP2C MCF7GSE21234 97607 98084 477 0
USF1 HepG2E 198339 199284 945 0
hScc1 BcellGSE12603 109268 109594 326 0
hScc1 BcellGSE12603 110364 110696 332 0
hScc1 BcellGSE12603 136915 138567 1652 0
hScc1 BcellGSE12603 142518 142963 445 0
hScc1 BcellGSE12603 147463 147930 467 0
hScc1 BcellGSE12603 151731 152112 381 0
hScc1 BcellGSE12603 156487 157204 717 0
hScc1 BcellGSE12603 162813 163384 571 0
hScc1 BcellGSE12603 164236 167310 3074 0
hScc1 BcellGSE12603 171053 171548 495 0
hScc1 BcellGSE12603 173673 174415 742 0
hScc1 BcellGSE12603 181994 182454 460 0
hScc1 BcellGSE12603 183983 185209 1226 0
hScc1 BcellGSE12603 186188 186524 336 0
hScc1 BcellGSE12603 187204 187485 281 0
hScc1 BcellGSE12603 188666 189284 618 0
hScc1 BcellGSE12603 189803 190250 447 0
hScc1 BcellGSE12603 190780 191079 299 0
hScc1 BcellGSE12603 195310 195660 350 0
hScc1 BcellGSE12603 65504 66005 501 0
hScc1 BcellGSE12603 70062 71715 1653 0
hScc1 BcellGSE12603 97807 98632 825 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
10431 EST chr17 171162 172244 44 mRNA RPH3AL chr17 62293 202576Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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